Amniocentesis Health Dictionary

Amniocentesis: From 3 Different Sources


A diagnostic procedure in which a small amount of amniotic fluid is withdrawn, using a syringe and guided by ultrasound scanning, from the amniotic sac that surrounds the fetus in the uterus. This fluid contains fetal cells that can be subjected to chromosome analysis to identify chromosomal defects such as Down’s syndrome or genetic analysis to look for genetic disorders such as haemophilia, cystic fibrosis, and Tay–Sachs disease. Chemical analysis of amniotic fluid can help to diagnose developmental abnormalities such as spina bifida. Rhesus incompatibility and maturity of the fetal lungs can also be checked.

Amniocentesis is usually performed in the 14th–18th week of pregnancy. It slightly increases the risk of miscarriage or early rupture of the membranes and is therefore recommended only when the fetus is thought to be at increased risk of an abnormality. (See also antenatal care, chorionic villus sampling.)

Health Source: BMA Medical Dictionary
Author: The British Medical Association
A diagnostic procedure for detecting abnormalities of the FETUS. Usually carried out between the 16th and 18th week of pregnancy, amniocentesis is performed by piercing the amniotic sac in the pregnant UTERUS with a hollow needle and withdrawing a sample of AMNIOTIC FLUID for laboratory analysis. As well as checking for the presence of abnormal fetal cells, the procedure can show the sex of the fetus. The risk of early rupture of the fetal membranes or of miscarriage is low (around 0.5 per cent).
Health Source: Medical Dictionary
Author: Health Dictionary
n. withdrawal of a sample of the fluid (*amniotic fluid) surrounding a fetus in the uterus by piercing the amniotic sac through the abdominal wall, under direct ultrasound guidance. As the amniotic fluid contains cells from the fetus (mostly shed from the skin), cell cultures enable chromosome patterns to be studied so that *prenatal diagnosis of chromosomal abnormalities (such as *Down’s syndrome) can be made. Certain metabolic errors and other abnormalities, such as *spina bifida, can also be diagnosed prenatally from analysis of the cells or of the fluid. Amniocentesis is usually performed at any time from the 15th completed week of gestation; it carries a 1–2% risk of miscarriage.
Health Source: Oxford | Concise Colour Medical Dictionary
Author: Jonathan Law, Elizabeth Martin

Cystic Fibrosis

This is the most common serious genetic disease in Caucasian children, with an incidence of about one per 2,500 births, and more than 6,000 patients in the UK (30,000 in the USA). It is an autosomal recessive disorder of the mucus-secreting glands of the lungs, the pancreas, the mouth, and the gastrointestinal tract, as well as the sweat glands of the skin. The defective gene is sited on chromosome 7 which encodes for a protein, cystic ?brosis transmembrane conductance regulator (CFTR). Individuals who inherit the gene only on one set of chromosomes can, however, carry the defect into successive generations. Where parents have a child with cystic ?brosis, they have a one-infour chance of subsequent children having the disease. They should seek GENETIC COUNSELLING.

The disorder is characterised by failure to gain weight in spite of a good appetite, by repeated attacks of bronchitis (with BRONCHIECTASIS developing at a young age), and by the passage of loose, foul-smelling and slimy stools (faeces). AMNIOCENTESIS, which yields amniotic ?uid along with cells shed from the fetus’s skin, can be used to diagnose cystic ?brosis prenatally. The levels of various enzymes can be measured in the ?uid and are abnormal when the fetus is affected by cystic ?brosis. Neonatal screening is possible using a test on blood spots – immunoreactive trypsin (IRT).

In children with symptoms or a positive family history, the disease can be tested for by measuring sweat chloride and sodium. This detects the abnormal amount of salt that is excreted via the sweat glands when cystic ?brosis is present. Con?rmation is by genetic testing.

Treatment This consists basically of regular physiotherapy and postural drainage, antibiotics and the taking of pancreatic enzyme tablets and vitamins. Some children need STEROID treatment and all require nutritional support. The earlier treatment is started, the better the results. Whereas two decades ago, only 12 per cent of affected children survived beyond adolescence, today 75 per cent survive into adult life, and an increasing number are surviving into their 40s. Patients with end-stage disease can be treated by heart-lung transplantation (with their own heart going to another recipient). Research is underway on the possible use of GENE THERAPY to control the disorder. Parents of children with cystic ?brosis, seeking help and advice, can obtain this from the Cystic Fibrosis Trust.... cystic fibrosis

Down’s Syndrome

A chromosomal abnormality resulting in a variable degree of learning difficulties and a characteristic physical appearance.

People with Down’s syndrome have an extra chromosome (47 instead of 46). Affected individuals have 3 copies of chromosome number 21 instead of 2; the disorder is also called trisomy 21. In most cases, it is the result of a sperm or egg being formed with an extra chromosome 21. If one of these takes part in fertilization, the baby will also have the extra chromosome. This type of abnormality is more likely if the mother is aged over 35. A less common cause is a chromosomal abnormality known as a translocation, in which part of 1 parent’s own chromosome number 21 has joined with another chromosome. The parent is unaffected but has a high risk of having Down’s children.

Typical physical features of a person with Down’s syndrome include small face and features; sloping eyes with folds of skin that cover their inner corners; large tongue; and short, broad hands. People with Down’s syndrome have a greater than normal risk for certain disorders, such as a heart defect at birth (see heart disease, congenital), intestinal atresia (a narrowing in the intestines), congenital deafness, and acute leukaemia. Down’s syndrome children are especially susceptible to ear infections. A type of Alzheimer’s disease often develops after age 40.

Down’s syndrome is usually recognized soon after birth.

The diagnosis is confirmed by chromosome analysis.

Screening tests during early pregnancy, including ultrasound scanning, indicate those fetuses likely to have the syndrome.

Amniocentesis is then offered.... down’s syndrome

Alpha-feto Protein

A protein produced in the gut and liver of the FETUS. Abnormality in the fetus, such as neural tube defect, may result in raised levels of alphafeto protein in the maternal blood. In DOWN’S (DOWN) SYNDROME, levels may be abnormally low. In either case, screening of the pregnancy should be carried out, including AMNIOCENTESIS to check the amount of alpha-feto protein in the amniotic ?uid. The protein may also be produced in some abnormal tissues in the adult – in patients with liver cancer, for example.... alpha-feto protein

Cheese

Nutritional Profile Energy value (calories per serving): Moderate to high Protein: Moderate to high Fat: Low to high Saturated fat: High Cholesterol: Low to high Carbohydrates: Low Fiber: None Sodium: High Major vitamin contribution: Vitamin A, vitamin D, B vitamins Major mineral contribution: Calcium

About the Nutrients in This Food Cheese making begins when Lactobacilli and/or Streptococci bacteria are added to milk. The bacteria digest lactose (milk sugar) and release lactic acid, which coagulates casein (milk protein) into curds. Rennet (gastric enzymes extracted from the stomach of calves) is added, and the mixture is put aside to set. The longer the curds are left to set, the firmer the cheese will be. When the curds are properly firm, they are pressed to squeeze out the whey (liquid) and cooked. Cooking evaporates even more liquid and makes the cheese even firmer.* At this point, the product is “fresh” or “green” cheese: cottage cheese, cream cheese, farmer cheese. Making “ripe” cheese requires the addition of salt to pull out more moisture and specific organisms, such as Penicil- lium roquefort for Roquefort cheese, blue cheese, and Stilton, or Penicillium cambembert for Camembert and Brie. The nutritional value of cheese is similar to the milk from which it is made. All cheese is a good source of high quality proteins with sufficient amounts of all the essential amino acids. Cheese is low to high in fat, mod- erate to high in cholesterol. * Natural cheese is cheese made direct ly from milk. Processed cheese is natural cheese melted and combined wit h emulsifiers. Pasteurized process cheese foods contain ingredients t hat allow t hem to spread smoot hly; t hey are lower in fat and higher in moisture t han processed cheese. Cholesterol and Saturated Fat Content of Selected Cheeses Mozzarella Source: USDA, Nutritive Value of Foods, Home and Garden Bullet in No. 72 (USDA, 1989). All cheeses, except cottage cheese, are good sources of vitamin A. Orange and yellow cheeses are colored with carotenoid pigments, including bixin (the carotenoid pigment in annatto) and synthetic beta-carotene. Hard cheeses are an excellent source of calcium; softer cheeses are a good source; cream cheese and cottage cheese are poor sources. The R DA for calcium is 1,000 mg for a woman, 1,200 mg for a man, and 1,500 mg for an older woman who is not on hormone- replacement therapy. All cheese, unless otherwise labeled, is high in sodium.

Calcium Content of Cheese  
  Cheese   Serving   Calcium (mg)
Blue oz. 150
Camembert wedge 147
Cheddar oz. 204
Cottage cheese    
creamed cup 135
uncreamed cup 46
Muenster oz. 203
Pasteurized processed American oz. 174
Parmesan grated tbsp. 69
Provolone oz. 214
Swiss oz. 272
  Source: Nutritive Value of Foods, Home and Gardens Bullet in No. 72 (USDA, 1989).

The Most Nutritious Way to Serve This Food With grains, bread, noodles, beans, nuts, or vegetables to add the essential amino acids miss- ing from these foods, “complete” their proteins, and make them more nutritionally valuable.

Diets That May Restrict or Exclude This Food Antiflatulence diet Controlled-fat, low-cholesterol diet Lactose- and galactose-free diet (lactose, a disaccharide [double sugar] is composed of one unit of galactose and one unit of glucose) Low-calcium diet (for patients with kidney disease) Sucrose-free diet (processed cheese)

Buying This Food Look for: Cheese stored in a refrigerated case. Check the date on the package. Avoid: Any cheese with mold that is not an integral part of the food.

Storing This Food Refrigerate all cheese except unopened canned cheeses (such as Camembert in tins) or grated cheeses treated with preservatives and labeled to show that they can be kept outside the refrigerator. Some sealed packages of processed cheeses can be stored at room temperature but must be refrigerated once the package is opened. Wrap cheeses tightly to protect them from contamination by other microorganisms in the air and to keep them from drying out. Well-wrapped, refrigerated hard cheeses that have not been cut or sliced will keep for up to six months; sliced hard cheeses will keep for about two weeks. Soft cheeses (cottage cheese, ricotta, cream cheese, and Neufchatel) should be used within five to seven days. Use all packaged or processed cheeses by the date stamped on the package. Throw out moldy cheese (unless the mold is an integral part of the cheese, as with blue cheese or Stilton).

Preparing This Food To grate cheese, chill the cheese so it won’t stick to the grater. The molecules that give cheese its taste and aroma are largely immobilized when the cheese is cold. When serving cheese with fruit or crackers, bring it to room temperature to activate these molecules.

What Happens When You Cook This Food Heat changes the structure of proteins. The molecules are denatured, which means that they may be broken into smaller fragments or change shape or clump together. All of these changes may force moisture out of the protein tissue, which is why overcooked cheese is often stringy. Whey proteins, which do not clump or string at low temperatures, contain the sulfur atoms that give hot or burned cheese an unpleasant “cooked” odor. To avoid both strings and an unpleasant odor, add cheese to sauces at the last minute and cook just long enough to melt the cheese.

How Other Kinds of Processing Affect This Food Freezing. All cheese loses moisture when frozen, so semisoft cheeses will freeze and thaw better than hard cheeses, which may be crumbly when defrosted. Drying. The less moisture cheese contains, the less able it is to support the growth of organ- isms like mold. Dried cheeses keep significantly longer than ordinary cheeses.

Medical Uses and/or Benefits To strengthen bones and reduce age-related loss of bone density. High-calcium foods protect bone density. The current recommended dietary allowance (R DA) for calcium is still 800 mg for adults 25 and older, but a 1984 National Institutes of Health (NIH) Conference advisory stated that lifelong protection for bones requires an R DA of 1,000 mg for healthy men and women age 25 to 50 ; 1,000 mg for older women using hormone replacement therapy; and 1,500 mg for older women who are not using hormones, and these recommendations have been confirmed in a 1994 NIH Consensus Statement on optimal calcium intake. A diet with adequate amounts of calcium-rich foods helps protect bone density. Low-fat and no-fat cheeses provide calcium without excess fat and cholesterol. Protection against tooth decay. Studies at the University of Iowa (Iowa City) Dental School confirm that a wide variety of cheeses, including aged cheddar, Edam, Gouda, Monterey Jack, Muenster, mozzarella, Port Salut, Roquefort, Romano, Stilton, Swiss, and Tilsit—limit the tooth decay ordinarily expected when sugar becomes trapped in plaque, the sticky film on tooth surfaces where cavity-causing bacteria flourish. In a related experiment using only cheddar cheese, people who ate cheddar four times a day over a two-week period showed a 20 percent buildup of strengthening minerals on the surface of synthetic toothlike material attached to the root surfaces of natural teeth. Protection against periodontal disease. A report in the January 2008 issue of the Journal of Periodontology suggests that consuming adequate amounts of dairy products may reduce the risk of developing periodontal disease. Examining the dental health of 942 subjects ages 40 to 79, researchers at Kyushu University, in Japan, discovered that those whose diets regularly included two ounces (55 g) of foods containing lactic acid (milk, cheese, and yogurt) were significantly less likely to have deep “pockets” (loss of attachment of tooth to gum) than those who consumed fewer dairy products.

Adverse Effects Associated with This Food Increased risk of heart disease. Like other foods from animals, cheese is a source of choles- terol and saturated fats, which increase the amount of cholesterol circulating in your blood and raise your risk of heart disease. To reduce the risk of heart disease, the USDA /Health and Human Services Dietary Guidelines for Americans recommends limiting the amount of cholesterol in your diet to no more than 300 mg a day. The guidelines also recommend limit- ing the amount of fat you consume to no more than 30 percent of your total calories, while holding your consumption of saturated fats to more than 10 percent of your total calories (the calories from saturated fats are counted as part of the total calories from fat). Food poisoning. Cheese made from raw (unpasteurized) milk may contain hazardous microorganisms, including Salmonella and Listeria. Salmonella causes serious gastric upset; Lis- teria, a flulike infection, encephalitis, or blood infection. Both may be life-threatening to the very young, the very old, pregnant women, and those whose immune systems are weakened either by illness (such as AIDS) or drugs (such as cancer chemotherapy). In 1998, the Federal Centers for Disease Control (CDC) released data identif ying Listeria as the cause of nearly half the reported deaths from food poisoning. Allergy to milk proteins. Milk is one of the foods most frequently implicated as a cause of allergic reactions, particularly upset stomach. However, in many cases the reaction is not a true allergy but the result of lactose intolerance (see below). Lactose intolerance. Lactose intolerance—the inability to digest the sugar in milk—is an inherited metabolic deficiency that affects two thirds of all adults, including 90 to 95 percent of all Orientals, 70 to 75 percent of all blacks, and 6 to 8 percent of Caucasians. These people do not have sufficient amounts of lactase, the enzyme that breaks the disaccharide lactose into its easily digested components, galactose and glucose. When they drink milk, the undi- gested sugar is fermented by bacteria in the gut, causing bloating, diarrhea, flatulence, and intestinal discomfort. Some milk is now sold with added lactase to digest the lactose and make the milk usable for lactase-deficient people. In making cheese, most of the lactose in milk is broken down into glucose and galactose. There is very little lactose in cheeses other than the fresh ones—cottage cheese, cream cheese, and farmer cheese. Galactosemia. Galactosemia is an inherited metabolic disorder in which the body lacks the enzymes needed to metabolize galactose, a component of lactose. Galactosemia is a reces- sive trait; you must receive the gene from both parents to develop the condition. Babies born with galactosemia will fail to thrive and may develop brain damage or cataracts if they are given milk. To prevent this, children with galactosemia are usually kept on a protective milk- free diet for several years, until their bodies have developed alternative pathways by which to metabolize galactose. Pregnant women who are known carriers of galactosemia may be advised to give up milk and milk products while pregnant lest the unmetabolized galactose in their bodies cause brain damage to the fetus (damage not detectable by amniocentesis). Genetic counseling is available to identif y galactosemia carriers and assess their chances of producing a baby with the disorder. Penicillin sensitivity. People who experience a sensitivity reaction the first time they take penicillin may have been sensitized by exposure to the Penicillium molds in the environment, including the Penicillium molds used to make brie, blue, camembert, roquefort, Stilton, and other “blue” cheeses.

Food/Drug Interactions Tetracycline. The calcium ions in milk products, including cheese, bind tetracyclines into insoluble compounds. If you take tetracyclines with cheese, your body may not be able to absorb and use the drug efficiently. Monoamine oxidase (MAO) inhibitors. Monoamine oxidase inhibitors are drugs used to treat depression. They inactivate naturally occurring enzymes in your body that metabolize tyra- mine, a substance found in many fermented or aged foods. Tyramine constricts blood ves- sels and increases blood pressure. If you eat a food such as aged or fermented cheese which is high in tyramine while you are taking an M AO inhibitor, your body may not be able to eliminate the tyramine. The result may be a hypertensive crisis.

Tyramine Content of Cheeses High Boursault, Camembert, Cheddar, Emmenthaler, Stilton Medium to high Blue, brick, Brie, Gruyère, mozzarella, Parmesan, Romano, Roquefort Low Processed American cheese Very little or none Cottage and cream cheese Sources: The Medical Letter Handbook of Adverse Drug Interactions (1985); Handbook of Clinical Dietetics ( The A merican Dietet ic Associat ion, 1981). False-positive test for pheochromocytoma. Pheochromocytomas (tumors of the adrenal glands) secrete adrenalin that is converted by the body to vanillyl-mandelic acid ( VM A) and excreted in the urine. Tests for this tumor measure the level of VM A in the urine. Since cheese contains VM A, taking the test after eating cheese may result in a false-positive result. Ordinarily, cheese is prohibited for at least 72 hours before this diagnostic test.... cheese

Down’s (down) Syndrome

A genetic disorder in which the affected person usually carries an extra chromosome – 47 instead of the usual 46. The extra chromosome occurs in the no. 21 group, hence the disorder is described as trisomy 21. The condition was named after Dr J L H Down, the London doctor who ?rst described it in 1866. The incidence is around one in 600 births. The disorder is characterised by a particular physical appearance and learning diffculties, with the affected individuals having an INTELLIGENCE QUOTIENT (IQ) ranging from 30 to 80 (normal is 100). Most people with the syndrome have eyes that slope up at the outer corners with skin folds that cover the inner ones. The face and features are smaller than normal, while the tongue is larger; the back of the head is ?attened and the hands are usually short and broad. The facial features led to the syndrome being described as ‘mongolism’, a term that is no longer used.

Children with Down’s syndrome are usually friendly and ?t in well with the family. Despite their learning disabilities, some learn to read and, if they have appropriate educational and environmental stimulation, can make the most of their abilities.

A heart defect is present in around 25 per cent of the children at birth, and deafness and acute LEUKAEMIA occur more frequently than in unaffected youngsters. Those with the syndrome are particularly prone to developing ear infections. ATHEROSCLEROSIS often develops early in adults and ALZHEIMER’S DISEASE tends to occur as early as 40 years of age. A friendly home environment helps them to enjoy life, but a few individuals with the syndrome may eventually require institutional care. Improved social and medical care means that many now live until their 60s.

Routine screening tests early in pregnancy, starting with blood analysis but going on if necessary to AMNIOCENTESIS and chorionic villus sampling (see PRENATAL SCREENING OR DIAGNOSIS), can identify fetuses likely to develop the disorder. If a sample of fetal cells con?rms the chromosome defect (triple marker test – see PREGNANCY AND LABOUR), the parents may consider termination of the pregnancy. In the UK, screening is normally o?ered to women over 35 because of their increased risk. When younger parents have a child with Down’s syndrome, the chances of a subsequent child with the disorder are relatively high as it is probable that both parents carry a chromosome abnormality insu?cient to cause ill-health until combined. So they may wish to discuss with their medical advisers the question of further pregnancies.

Parents who have a child with Down’s syndrome will understandably feel a combination of strong emotions, including anger and guilt, and constructive counselling can be valuable. Among societies o?ering advice and support is the Down’s Syndrome Association.... down’s (down) syndrome

Pregnancy And Labour

Pregnancy The time when a woman carries a developing baby in her UTERUS. For the ?rst 12 weeks (the ?rst trimester) the baby is known as an EMBRYO, after which it is referred to as the FETUS.

Pregnancy lasts about 280 days and is calculated from the ?rst day of the last menstrual period – see MENSTRUATION. Pregnancy-testing kits rely on the presence of the hormone beta HUMAN CHORIONIC GONADOTROPHIN (b HCG) which is excreted in the woman’s urine as early as 30 days from the last menstrual period. The estimated date of delivery can be accurately estimated from the size of the developing fetus measured by ULTRASOUND (see also below) between seven and 24 weeks. ‘Term’ refers to the time that the baby is due; this can range from 38 weeks to 41 completed weeks.

Physical changes occur in early pregnancy – periods stop and the abdomen enlarges. The breasts swell, with the veins becoming prominent and the nipples darkening. About two in three women will have nausea with a few experiencing such severe vomiting as to require hospital admission for rehydration.

Antenatal care The aim of antenatal care is to ensure a safe outcome for both mother and child; it is provided by midwives (see MIDWIFE) and doctors. Formal antenatal care began in Edinburgh in the 1930s with the recognition that all aspects of pregnancy – normal and abnormal – warranted surveillance. Cooperation between general practitioners, midwives and obstetricians is now established, with pregnancies that are likely to progress normally being cared for in the community and only those needing special intervention being cared for in a hospital setting.

The initial visit (or booking) in the ?rst half of pregnancy will record the history of past events and the results of tests, with the aim of categorising the patients into normal or not. Screening tests including blood checks and ultrasound scans are a routine part of antenatal care. The ?rst ultrasound scan is done at about 11 weeks to date the pregnancy, with a further one done at 20 weeks – the anomaly scan – to assess the baby’s structure. Some obstetric units will check the growth of the baby with one further scan later in the pregnancy or, in the case of twin pregnancies (see below), many scans throughout. The routine blood tests include checks for ANAEMIA, DIABETES MELLITUS, sickle-cell disease and THALASSAEMIA, as well as for the blood group. Evidence of past infections is also looked for; tests for RUBELLA (German measles) and SYPHILIS are routine, whereas tests for human immunode?ciency virus (see AIDS/ HIV below) and HEPATITIS are being o?ered as optional, although there is compelling evidence that knowledge of the mother’s infection status is bene?cial to the baby.

Traditional antenatal care consists of regular appointments, initially every four weeks until 34 weeks, then fortnightly or weekly. At each visit the mother’s weight, urine and blood pressure are checked, and assessment of fetal growth and position is done by palpating the uterus. Around two-thirds of pregnancies and labours are normal: in the remainder, doctors and midwives need to increase the frequency of surveillance so as to prevent or deal with maternal and fetal problems.

Common complications of pregnancy

Some of the more common complications of pregnancy are listed below.

As well as early detection of medical complications, antenatal visits aim to be supportive and include emotional and educational care. Women with uncomplicated pregnancies are increasingly being managed by midwives and general practitioners in the community and only coming to the hospital doctors should they develop a problem. A small number will opt for a home delivery, but facilities for providing such a service are not always available in the UK.

Women requiring more intensive surveillance have their management targeted to the speci?c problems encountered. Cardiologists will see mothers-to-be with heart conditions, and those at risk of diabetes are cared for in designated clinics with specialist sta?. Those women needing more frequent surveillance than standard antenatal care can be looked after in maternity day centres. These typically include women with mildly raised blood pressure or those with small babies. Fetal medicine units have specialists who are highly skilled in ultrasound scanning and specialise in the diagnosis and management of abnormal babies still in the uterus. ECTOPIC PREGNANCY Chronic abdominal discomfort early in pregnancy may be caused by unruptured ectopic pregnancy, when, rarely, the fertilised OVUM starts developing in the Fallopian tube (see FALLOPIAN TUBES) instead of the uterus. The patient needs hospital treatment and LAPAROSCOPY. A ruptured ectopic pregnancy causes acute abdominal symptoms and collapse, and the woman will require urgent abdominal surgery. URINARY TRACT INFECTIONS These affect around 2 per cent of pregnant women and are detected by a laboratory test of a mid-stream specimen of urine. In pregnancy, symptoms of these infections do not necessarily resemble those experienced by non-pregnant women. As they can cause uterine irritability and possible premature labour (see below), it is important to ?nd and treat them appropriately. ANAEMIA is more prevalent in patients who are vegetarian or on a poor diet. Iron supplements are usually given to women who have low concentrations of HAEMOGLOBIN in their blood (less than 10.5 g/dl) or who are at risk of becoming low in iron, from bleeding, twin pregnancies and those with placenta previa (see below). ANTEPARTUM HAEMORRHAGE Early in pregnancy, vaginal bleedings may be due to a spontaneous or an incomplete therapeutic ABORTION. Bleeding from the genital tract between 24 completed weeks of pregnancy and the start of labour is called antepartum haemorrhage. The most common site is where the PLACENTA is attached to the wall of the uterus. If the placenta separates before delivery, bleeding occurs in the exposed ‘bed’. When the placenta is positioned in the upper part of the uterus it is called an abruption. PLACENTA PRAEVIA is sited in the lower part and blocks or partly blocks the cervix (neck of the womb); it can be identi?ed at about the 34th week. Ten per cent of episodes of antepartum bleeding are caused by placenta previa, and it may be associated with bleeding at delivery. This potentially serious complication is diagnosed by ultrasound scanning and may require a caesarean section (see below) at delivery. INCREASED BLOOD PRESSURE, associated with protein in the urine and swelling of the limbs, is part of a condition known as PRE-ECLAMPSIA. This occurs in the second half of pregnancy in about 1 in 10 women expecting their ?rst baby, and is mostly very mild and of no consequence to the pregnancy. However, some women can develop extremely high blood pressures which can adversely affect the fetus and cause epileptic-type seizures and bleeding disorders in the mother. This serious condition is called ECLAMPSIA. For this reason a pregnant woman with raised blood pressure or PROTEIN in her urine is carefully evaluated with blood tests, often in the maternity day assessment unit. The condition can be stopped by delivery of the baby, and this will be done if the mother’s or the fetus’s life is in danger. If the condition is milder, and the baby not mature enough for a safe delivery, then drugs can be used to control the blood pressure. MISCARRIAGE Also called spontaneous abortion, miscarriage is the loss of the fetus. There are several types:

threatened miscarriage is one in which some vaginal bleeding occurs, the uterus is enlarged, but the cervix remains closed and pregnancy usually proceeds.

inevitable miscarriage usually occurs before the 16th week and is typi?ed by extensive blood loss through an opened cervix and cramp-like abdominal pain; some products of conception are lost but the developing placental area (decidua) is retained and an operation may be necessary to clear the womb.

missed miscarriages, in which the embryo dies and is absorbed, but the decidua (placental area of uterine wall) remains and may cause abdominal discomfort and discharge of old blood.

THERAPEUTIC ABORTION is performed on more than 170,000 women annually in England and Wales. Sometimes the woman may not have arranged the procedure through the usual health-care channels, so that a doctor may see a patient with vaginal bleeding, abdominal discomfort or pain, and open cervix – symptoms which suggest that the decidua and a blood clot have been retained; these retained products will need to be removed by curettage.

Septic abortions are now much less common in Britain than before the Abortion Act (1967) permitted abortion in speci?ed circumstances. The cause is the passage of infective organisms from the vagina into the uterus, with Escherichia coli and Streptococcus faecalis the most common pathogenic agents. The woman has abdominal pain, heavy bleeding, usually fever and sometimes she is in shock. The cause is usually an incomplete abortion or one induced in unsterile circumstances. Antibiotics and curettage are the treatment. INTRAUTERINE GROWTH RETARDATION describes a slowing of the baby’s growth. This can be diagnosed by ultrasound scanning, although there is a considerable margin of error in estimates of fetal weight. Trends in growth are favoured over one-o? scan results alone. GESTATIONAL DIABETES is a condition that is more common in women who are overweight or have a family member with diabetes. If high concentrations of blood sugar are found, e?orts are made to correct it as the babies can become very fat (macrosomia), making delivery more di?cult. A low-sugar diet is usually enough to control the blood concentration of sugars; however some women need small doses of INSULIN to achieve control. FETAL ABNORMALITIES can be detected before birth using ultrasound. Some of these defects are obvious, such as the absence of kidneys, a condition incompatible with life outside the womb. These women can be o?ered a termination of their pregnancy. However, more commonly, the pattern of problems can only hint at an abnormality and closer examination is needed, particularly in the diagnosis of chromosomal deformities such as DOWN’S (DOWN) SYNDROME (trisomy 21 or presence of three 21 chromosomes instead of two).

Chromosomal abnormalities can be de?nitively diagnosed only by cell sampling such as amniocentesis (obtaining amniotic ?uid – see AMNION – from around the baby) done at 15 weeks onwards, and chorionic villus sampling (sampling a small part of the placenta) – another technique which can be done from 12 weeks onwards. Both have a small risk of miscarriage associated with them; consequently, they are con?ned to women at higher risk of having an abnormal fetus.

Biochemical markers present in the pregnant woman’s blood at di?erent stages of pregnancy may have undergone changes in those carrying an abnormal fetus. The ?rst such marker to be routinely used was a high concentration of alpha-fetol protein in babies with SPINA BIFIDA (defects in the covering of the spinal cord). Fuller research has identi?ed a range of diagnostic markers which are useful, and, in conjunction with other factors such as age, ethnic group and ultrasound ?ndings, can provide a predictive guide to the obstetrician – in consultation with the woman – as to whether or not to proceed to an invasive test. These tests include pregnancy-associated plasma protein assessed from a blood sample taken at 12 weeks and four blood tests at 15–22 weeks – alphafetol protein, beta human chorionic gonadotrophin, unconjugated oestriol and inhibin A. Ultrasound itself can reveal physical ?ndings in the fetus, which can be more common in certain abnormalities. Swelling in the neck region of an embryo in early pregnancy (increased nuchal thickness) has good predictive value on its own, although its accuracy is improved in combination with the biochemical markers. The e?ectiveness of prenatal diagnosis is rapidly evolving, the aim being to make the diagnosis as early in the pregnancy as possible to help the parents make more informed choices. MULTIPLE PREGNANCIES In the UK, one in 95 deliveries is of twins, while the prevalence of triplets is one in 10,000 and quadruplets around one in 500,000. Racial variations occur, with African women having a prevalence rate of one in 30 deliveries for twins and Japanese women a much lower rate than the UK ?gure. Multiple pregnancies occur more often in older women, and in the UK the prevalence of fertility treatments, many of these being given to older women, has raised the incidence. There is now an o?cial limit of three eggs being transferred to a woman undergoing ASSISTED CONCEPTION (gamete intrafallopian transfer, or GIFT).

Multiple pregnancies are now usually diagnosed as a result of routine ultrasound scans between 16 and 20 weeks of pregnancy. The increased size of the uterus results in the mother having more or worse pregnancy-related conditions such as nausea, abdominal discomfort, backache and varicose veins. Some congenital abnormalities in the fetus occur more frequently in twins: NEURAL TUBE defects, abnormalities of the heart and the incidence of TURNER’S SYNDROME and KLINEFELTER’S SYNDROME are examples. Such abnormalities may be detected by ultrasound scans or amniocentesis. High maternal blood pressure and anaemia are commoner in women with multiple pregnancies (see above).

The growth rates of multiple fetuses vary, but the di?erence between them and single fetuses are not that great until the later stages of pregnancy. Preterm labour is commoner in multiple pregnancies: the median length of pregnancy is 40 weeks for singletons, 37 for twins and 33 for triplets. Low birth-weights are usually the result of early delivery rather than abnormalities in growth rates. Women with multiple pregnancies require more frequent and vigilant antenatal assessments, with their carers being alert to the signs of preterm labour occurring. CEPHALOPELVIC DISPROPORTION Disparity between the size of the fetus and the mother’s pelvis is not common in the UK but is a signi?cant problem in the developing world. Disparity is classi?ed as absolute, when there is no possibility of delivery, and relative, when the baby is large but delivery (usually after a dif?cult labour) is possible. Causes of absolute disparity include: a large baby – heavier than 5 kg at birth; fetal HYDROCEPHALUS; and an abnormal maternal pelvis. The latter may be congenital, the result of trauma or a contraction in pelvic size because of OSTEOMALACIA early in life. Disproportion should be suspected if in late pregnancy the fetal head has not ‘engaged’ in the pelvis. Sometimes a closely supervised ‘trial of labour’ may result in a successful, if prolonged, delivery. Otherwise a caesarean section (see below) is necessary. UNUSUAL POSITIONS AND PRESENTATIONS OF THE BABY In most pregnant women the baby ?ts into the maternal pelvis head-?rst in what is called the occipito-anterior position, with the baby’s face pointing towards the back of the pelvis. Sometimes, however, the head may face the other way, or enter the pelvis transversely – or, rarely, the baby’s neck is ?exed backwards with the brow or face presenting to the neck of the womb. Some malpositions will correct naturally; others can be manipulated abdominally during pregnancy to a better position. If, however, the mother starts labour with the baby’s head badly positioned or with the buttocks instead of the head presenting (breech position), the labour will usually be longer and more di?cult and may require intervention using special obstetric forceps to assist in extracting the baby. If progress is poor and the fetus distressed, caesarean section may be necessary. HIV INFECTION Pregnant women who are HIV positive (see HIV; AIDS/HIV) should be taking antiviral drugs in the ?nal four to ?ve months of pregnancy, so as to reduce the risk of infecting the baby in utero and during birth by around 50 per cent. Additional antiviral treatment is given before delivery; the infection risk to the baby can be further reduced – by about 40 per cent – if delivery is by caesarean section. The mother may prefer to have the baby normally, in which case great care should be taken not to damage the baby’s skin during delivery. The infection risk to the baby is even further reduced if it is not breast fed. If all preventive precautions are taken, the overall risk of the infant becoming infected is cut to under 5 per cent.

Premature birth This is a birth that takes place before the end of the normal period of gestation, usually before 37 weeks. In practice, however, it is de?ned as a birth that takes place when the baby weighs less than 2·5 kilograms (5••• pounds). Between 5 and 10 per cent of babies are born prematurely, and in around 40 per cent of premature births the cause is unknown. Pre-eclampsia is the most common known cause; others include hypertension, chronic kidney disease, heart disease and diabetes mellitus. Multiple pregnancy is another cause. In the vast majority of cases the aim of management is to prolong the pregnancy and so improve the outlook for the unborn child. This consists essentially of rest in bed and sedation, but there are now several drugs, such as RITODRINE, that may be used to suppress the activity of the uterus and so help to delay premature labour. Prematurity was once a prime cause of infant mortality but modern medical care has greatly improved survival rates in developing countries.

Labour Also known by the traditional terms parturition, childbirth or delivery, this is the process by which the baby and subsequently the placenta are expelled from the mother’s body. The onset of labour is often preceded by a ‘show’ – the loss of the mucus and blood plug from the cervix, or neck of the womb; this passes down the vagina to the exterior. The time before the beginning of labour is called the ‘latent phase’ and characteristically lasts 24 hours or more in a ?rst pregnancy. Labour itself is de?ned by regular, painful contractions which cause dilation of the neck of the womb and descent of the fetal head. ‘Breaking of the waters’ is the loss of amniotic ?uid vaginally and can occur any time in the delivery process.

Labour itself is divided into three stages: the ?rst is from the onset of labour to full (10 cm) dilation of the neck of the womb. This stage varies in length, ideally taking no more than one hour per centimetre of dilation. Progress is monitored by regular vaginal examinations, usually every four hours. Fetal well-being is observed by intermittent or continuous monitoring of the fetal heart rate in relation to the timing and frequency of the contractions. The print-out is called a cardiotocograph. Abnormalities of the fetal heart rate may suggest fetal distress and may warrant intervention. In women having their ?rst baby (primigravidae), the common cause of a slow labour is uncoordinated contractions which can be overcome by giving either of the drugs PROSTAGLANDIN or OXYTOCIN, which provoke contractions of the uterine muscle, by an intravenous drip. Labours which progress slowly or not at all may be due to abnormal positioning of the fetus or too large a fetus, when prostaglandin or oxytocin is used much more cautiously.

The second stage of labour is from full cervical dilation to the delivery of the baby. At this stage the mother often experiences an irresistible urge to push the baby out, and a combination of strong coordinated uterine contractions and maternal e?ort gradually moves the baby down the birth canal. This stage usually lasts under an hour but can take longer. Delay, exhaustion of the mother or distress of the fetus may necessitate intervention by the midwife or doctor. This may mean enlarging the vaginal opening with an EPISIOTOMY (cutting of the perineal outlet – see below) or assisting the delivery with specially designed obstetric forceps or a vacuum extractor (ventouse). If the cervix is not completely dilated or open and the head not descended, then an emergency caesarean section may need to be done to deliver the baby. This procedure involves delivering the baby and placenta through an incision in the mother’s abdomen. It is sometimes necessary to deliver by planned or elective caesarean section: for example, if the placenta is low in the uterus – called placenta praevia – making a vaginal delivery dangerous.

The third stage occurs when the placenta (or afterbirth) is delivered, which is usually about 10–20 minutes after the baby. An injection of ergometrine and oxytocin is often given to women to prevent bleeding.

Pain relief in labour varies according to the mother’s needs. For uncomplicated labours, massage, reassurance by a birth attendant, and a warm bath and mobilisation may be enough for some women. However, some labours are painful, particularly if the woman is tired or anxious or is having her ?rst baby. In these cases other forms of analgesia are available, ranging from inhalation of NITROUS OXIDE GAS, injection of PETHIDINE HYDROCHLORIDE or similar narcotic, and regional local anaesthetic (see ANAESTHESIA).

Once a woman has delivered, care continues to ensure her and the baby’s safety. The midwives are involved in checking that the uterus returns to its normal size and that there is no infection or heavy bleeding, as well as caring for stitches if needed. The normal blood loss after birth is called lochia and generally is light, lasting up to six weeks. Midwives o?er support with breast feeding and care of the infant and will visit the parents at home routinely for up to two weeks.

Some complications of labour All operative deliveries in the UK are now done in hospitals, and are performed if a spontaneous birth is expected to pose a bigger risk to the mother or her child than a specialist-assisted one. Operative deliveries include caesarean section, forceps-assisted deliveries and those in which vacuum extraction (ventouse) is used. CAESAREAN SECTION Absolute indications for this procedure, which is used to deliver over 15 per cent of babies in Britain, are cephalopelvic disproportion and extensive placenta praevia, both discussed above. Otherwise the decision to undertake caesarean section depends on the clinical judgement of the specialist and the views of the mother. The rise in the proportion of this type of intervention (from 5 per cent in the 1930s to its present level of over 23 per cent

P

of the 600,000 or so annual deliveries in England) has been put down to defensive medicine

– namely, the doctor’s fear of litigation (initiated often because the parents believe that the baby’s health has suffered because the mother had an avoidably di?cult ‘natural’ labour). In Britain, over 60 per cent of women who have had a caesarean section try a vaginal delivery in a succeeding pregnancy, with about two-thirds of these being successful. Indications for the operation include:

absolute and relative cephalopelvic disproportion.

placenta previa.

fetal distress.

prolapsed umbilical cord – this endangers the viability of the fetus because the vital supply of oxygen and nutrients is interrupted.

malpresentation of the fetus such as breech or transverse lie in the womb.

unsatisfactory previous pregnancies or deliveries.

a request from the mother.

Caesarean sections are usually performed using regional block anaesthesia induced by a spinal or epidural injection. This results in loss of feeling in the lower part of the body; the mother is conscious and the baby not exposed to potential risks from volatile anaesthetic gases inhaled by the mother during general anaesthesia. Post-operative complications are higher with general anaesthesia, but maternal anxiety and the likelihood that the operation might be complicated and di?cult are indications for using it. A general anaesthetic may also be required for an acute obstetric emergency. At operation the mother’s lower abdomen is opened and then her uterus opened slowly with a transverse incision and the baby carefully extracted. A transverse incision is used in preference to the traditional vertical one as it enables the woman to have a vaginal delivery in any future pregnancy with a much smaller risk of uterine rupture. Women are usually allowed to get up within 24 hours and are discharged after four or ?ve days. FORCEPS AND VENTOUSE DELIVERIES Obstetric forceps are made in several forms, but all are basically a pair of curved blades shaped so that they can obtain a purchase on the baby’s head, thus enabling the operator to apply traction and (usually) speed up delivery. (Sometimes they are used to slow down progress of the head.) A ventouse or vacuum extractor comprises an egg-cup-shaped metal or plastic head, ranging from 40 to 60 mm in diameter with a hollow tube attached through which air is extracted by a foot-operated vacuum pump. The instrument is placed on the descending head, creating a negative pressure on the skin of the scalp and enabling the operator to pull the head down. In mainland Europe, vacuum extraction is generally preferred to forceps for assisting natural deliveries, being used in around 5 per cent of all deliveries. Forceps have a greater risk of causing damage to the baby’s scalp and brain than vacuum extraction, although properly used, both types should not cause any serious damage to the baby.

Episiotomy Normal and assisted deliveries put the tissues of the genital tract under strain. The PERINEUM is less elastic than the vagina and, if it seems to be splitting as the baby’s head

moves down the birth canal, it may be necessary to cut the perineal tissue – a procedure called an episiotomy – to limit damage. This is a simple operation done under local anaesthetic. It should be done only if there is a speci?c indication; these include:

to hasten the second stage of labour if the fetus is distressed.

to facilitate the use of forceps or vacuum extractor.

to enlarge a perineum that is restricted because of unyielding tissue, perhaps because of a scar from a previous labour. Midwives as well as obstetricians are trained

to undertake and repair (with sutures) episiotomies.

(For organisations which o?er advice and information on various aspects of childbirth, including eclampsia, breast feeding and multiple births, see APPENDIX 2: ADDRESSES: SOURCES OF INFORMATION, ADVICE, SUPPORT AND SELF-HELP.)... pregnancy and labour

Anencephaly

Absence of the brain and cranial vault (top of the skull) at birth. Most infants with anencephaly are stillborn or survive only a few hours. Anencephaly is detectable early in pregnancy by measurement of the maternal

alpha-fetoprotein, by ultrasound scanning, by amniocentesis, or by fetoscopy; if anencephaly is detected, termination of the pregnancy may be considered. Anencephaly is due to a failure in the development of the neural tube, which is the nerve tissue in the embryo that normally develops into the spinal cord and brain. (See also neural tube defects.)... anencephaly

Anti-d(rh0) Immunoglobulin

An antiserum that contains antibodies against Rhesus (Rh) D factor (a substance present on the red blood cells of people with Rh-positive blood).

Anti-D(Rh0) immunoglobulin is given routinely at intervals during normal pregnancy and at delivery.

An additional dose is also given after an amniocentesis, miscarriage, or any event in which the baby’s blood may enter the mother’s circulation.

The injected antibodies prevent the woman from forming her own antibodies against Rh-positive blood, which might adversely affect a subsequent pregnancy.

(See also haemolytic disease of the newborn; Rhesus incompatibility.)... anti-d(rh0) immunoglobulin

Prenatal Screening Or Diagnosis

Prenatal screening of fetal abnormalities may be the result of screening tests carried out on most or all pregnant women, or as the result of speci?c diagnostic tests performed to detect speci?c conditions. Prenatal diagnosis is important as it will identify babies who might need medical or surgical treatment before or soon after birth. In addition, it may also detect severe abnormalities for which parents might decide to have a therapeutic ABORTION.

ULTRASOUND scanning is probably the most widely used diagnostic tool in obstetric practice. It can detect structural abnormalities such as SPINA BIFIDA and CLEFT PALATE and even cardiac and renal problems. A series of scans can assess whether the baby is growing at a normal rate; ultrasound may also be used to assist with other diagnostic tests (e.g. AMNIOCENTESIS – see below).

Tests on the mother’s blood can also diagnose fetal abnormalities. Alphafetoprotein (AFP) is produced by babies and ‘leaks’ into the AMNIOTIC FLUID and is absorbed by the mother. In spina bi?da and other neural-tube defects there is increased leakage of AFP, and a blood test at 16 weeks’ gestation can detect a raised level which suggests the presence of these abnormalities.

The triple test, also performed at 16 weeks, measures AFP and two hormones – HUMAN CHORIONIC GONADOTROPHIN and unconjugated OESTRADIOL – and is used in diagnosing DOWN’S (DOWN) SYNDROME.

Amniocentesis involves inserting a needle through the mother’s abdominal wall into the uterus to remove a sample of amniotic ?uid at 16–18 weeks. Examination of the ?uid and the cells it contains is used in the diagnosis of Down’s syndrome and other inherited disorders. The test carries a small risk of miscarriage.

Chorionic villus sampling may be used to diagnose various inherited conditions. A small amount of tissue from the developing PLACENTA is removed for analysis: this test has the advantages of having a lower incidence of miscarriage than amniocentesis and is carried out at an earlier stage (9–13 weeks).

Analysis of a blood sample removed from the umbilical cord (cordocentesis) may diagnose infections in the uterus, blood disorders or inherited conditions.

Direct observation of the fetus via a viewing instrument called a fetoscope is also used diagnostically and will detect structural abnormalities.

Most tests have a recognised incidence of false positive and negative results and are therefore usually cross-checked with another test. Counselling of the parents about prenatal tests is important. This allows them to make an informed choice which may not necessarily involve terminating the pregnancy if an abnormality is found. (See PREGNANCY AND LABOUR.)... prenatal screening or diagnosis

Antenatal Care

The care of a pregnant woman and her unborn baby throughout a pregnancy. Such care involves regular visits to a doctor or midwife, who performs abdominal examinations, blood and urine tests, and monitoring of blood pressure and fetal growth to detect disease or potential problems.

Ultrasound scanning is carried out to identify abnormalities in the fetus. Chorionic villus sampling or amniocentesis may be performed if the baby is thought to be at increased risk of a chromosomal abnormality or a genetic disorder. The woman is also advised on general aspects of pregnancy, such as diet, exercise, techniques to help her with childbirth.

(See also childbirth, natural.)... antenatal care

Birth Defects

Abnormalities that are obvious at birth or detectable early in infancy. Also called congenital defects, they encompass both minor abnormalities, such as birthmarks, and serious disorders such as spina bifida.

Causes include chromosomal abnormalities, genetic defects, drugs taken during pregnancy, exposure to radiation, and infections. In some cases, the cause of a defect is unknown. Defects that are due to chromosomal abnormalities include Down’s syndrome. Some defects, such as achondroplasia and albinism, are usually inherited from 1 or both parents (see gene; genetic disorders). Certain drugs and chemicals (called teratogens) can damage the fetus if the mother takes or is exposed to them during early pregnancy. Teratogenic drugs include thalidomide (now rarely prescribed) and isotretinoin, which is used in the treatment of severe acne. Alcohol can affect the development of the brain and face (see fetal alcohol syndrome).

Irradiation of the embryo in early pregnancy can cause abnormalities. Very small doses of radiation increase the child’s risk of developing leukaemia later in life (see radiation hazards).

Certain illnesses, such as rubella (German measles) and toxoplasmosis, can cause birth defects if they are contracted during pregnancy.

Brain and spinal cord abnormalities, such as spina bifida and hydrocephalus, and congenital heart disorders (see heart disease, congenital) result from interference with the development of particular groups of cells. Other common defects include cleft lip and palate.

Ultrasound scanning and blood tests during pregnancy can identify women at high risk of having a baby with a birth defect. Further tests such as chorionic villus sampling, amniocentesis, or fetoscopy may then be carried out.... birth defects

Cytology

The study of individual cells. Cytology’s main use in medicine is to detect abnormal cells. It is widely used to screen for cancer (as in the cervical smear test) or to confirm a diagnosis of cancer, and increasingly in antenatal screening for certain fetal abnormalities (using amniocentesis or chorionic villus sampling to obtain the sample of cells).

Examination of cells in a sample of fluid also helps to determine the cause of conditions such as pleural effusion and ascites.

Fine-needle aspiration biopsy of internal organs also involves cytology.... cytology

Fetoscopy

A procedure for directly observing a fetus inside the uterus by means of a fetoscope, a type of endoscope. Fetoscopy is used to diagnose various congenital abnormalities before the baby is born. Because the technique carries some risks, it is performed only when other tests such as ultrasound scanning have detected an abnormality. By attaching additional instruments, it is also possible to use the fetoscope to take samples of fetal blood or tissue for analysis and to correct surgically some fetal disorders. (See also amniocentesis; chorionic villus sampling.)... fetoscopy

Amnioreduction

n. the removal of amniotic fluid in greater amounts than required for amniocentesis for therapeutic reasons (e.g. *twin-to-twin transfusion syndrome, *polyhydramnios).... amnioreduction

Ultrasound

Ultrasound, or ultrasonic, waves comprise very-high-frequency sound waves above 20,000 Hz that the human ear cannot hear. Ultrasound is widely used for diagnosis and also for some treatments. In OBSTETRICS, ultrasound can assess the stage of pregnancy and detect abnormalities in the FETUS (see below). It is a valuable adjunct in the investigation of diseases in the bladder, kidneys, liver, ovaries, pancreas and brain (for more information on these organs and their diseases, see under separate entries); it also detects thromboses (clots) in blood vessels and enables their extent to be assessed. A non-invasive technique that does not need ionising radiation, ultrasound is quick, versatile and relatively inexpensive, with scans being done in any plane of the body. There is little danger to the patient or operator: unlike, for example, XRAYS, ultrasound investigations can be repeated as needed. A contrast medium is not required. Its reliability is dependent upon the skill of the operator.

Ultrasound is replacing ISOTOPE scanning in many situations, and also RADIOGRAPHY. Ultrasound of the liver can separate medical from surgical JAUNDICE in approximately 97 per cent of patients; it is very accurate in detecting and de?ning cystic lesions of the liver, but is less accurate with solid lesions – and yet will detect 85 per cent of secondary deposits (this is less than COMPUTED TOMOGRAPHY [CT] scanning). It is very accurate in detecting gall-stones (see GALL-BLADDER, DISEASES OF) and more accurate than the oral cholecystogram. It is useful as a screening test for pancreatic disease and can di?erentiate carcinoma of the pancreas from chronic pancreatitis with 85 per cent accuracy.

Ultrasound is the ?rst investigation indicated in patients presenting with renal failure, as it can quickly determine the size and shape of the kidney and whether there is any obstruction to the URETER. It is very sensitive to the presence of dilatation of the renal tract and will detect space-occupying lesions, di?erentiating cysts and tumours. It can detect also obstruction of the ureter due to renal stones by showing dilatations of the collecting system and the presence of the calculus. Adrenal (see ADRENAL GLANDS) tumours can be demonstrated by ultrasound, although it is less accurate than CT scanning.

The procedure is now the ?rst test for suspected aortic ANEURYSM and it can also show the presence of clot and delineate the true and false lumen. It is good at demonstrating subphrenic and subhepatic abscesses (see ABSCESS) and will show most intra-abdominal abscesses; CT scanning is however better for the retroperitoneal region. It has a major application in thyroid nodules as it can di?erentiate cystic from solid lesions and show the multiple lesions characteristic of the nodular GOITRE (see also THYROID GLAND, DISEASES OF). It cannot differentiate between a follicular adenoma and a carcinoma, as both these tumours are solid; nor can it demonstrate normal parathyroid glands. However, it can identify adenomas provided that they are more than 6 mm in diameter. Finally, ultrasound can di?erentiate masses in the SCROTUM into testicular and appendicular, and it can demonstrate impalpable testicular tumours. This is important as 15 per cent of testicular tumours metastasise whilst they are still impalpable.

Ultrasonic waves are one of the constituents in the shock treatment of certain types of gallstones and CALCULI in the urinary tract (see LITHOTRIPSY). They are also being used in the treatment of MENIÈRE’S DISEASE and of bruises and strains. In this ?eld of physiotherapy, ultrasonic therapy is proving of particular value in the treatment of acute injuries of soft tissue. If in such cases it is used immediately after the injury, or as soon as possible thereafter, prompt recovery is facilitated. For this reason it is being widely used in the treatment of sports injuries (see also SPORTS MEDICINE). The sound waves stimulate the healing process in damaged tissue.

Doppler ultrasound is a technique which shows the presence of vascular disease in the carotid and peripheral vessels, as it can detect the reduced blood ?ow through narrowed vessels.

Ultrasound in obstetrics Ultrasound has particular applications in obstetrics. A fetus can be seen with ultrasound from the seventh week of pregnancy, and the fetal heart can be demonstrated at this stage. Multiple pregnancy can also be diagnosed at this time by the demonstration of more than one gestation sac containing a viable fetus. A routine obstetric scan is usually performed between the 16th and 18th week of pregnancy when the fetus is easily demonstrated and most photogenic. The fetus can be measured to assess the gestational age, and the anatomy can also be checked. Intra-uterine growth retardation is much more reliably diagnosed by ultrasound than by clinical assessment. The site of the placenta can also be recorded and multiple pregnancies will be diagnosed at this stage. Fetal movements and even the heartbeat can be seen. A second scan is often done between the 32nd and 34th weeks to assess the position, size and growth rate of the baby. The resolution of equipment now available enables pre-natal diagnosis of a wide range of structural abnormalities to be diagnosed. SPINA BIFIDA, HYDROCEPHALUS and ANENCEPHALY are probably the most important, but other anomalies such as multicystic kidney, achondroplasia and certain congenital cardiac anomalies can also be identi?ed. Fetal gender can be determined from 20 weeks of gestation. Ultrasound is also useful as guidance for AMNIOCENTESIS.

In gynaecology, POLYCYSTIC OVARY SYNDROME can readily be detected as well as FIBROID and ovarian cysts. Ultrasound can monitor follicular growth when patients are being treated with infertility drugs. It is also useful in detecting ECTOPIC PREGNANCY. (See also PREGNANCY AND LABOUR.)... ultrasound

Centesis

combining form denoting puncture or perforation. Example: amniocentesis (surgical puncture of the amnion).... centesis

Edwards’ Syndrome

a condition resulting from a genetic abnormality in which an extra chromosome is present – there are three no. 18 chromosomes instead of the usual two. Affected babies, who rarely survive, have a characteristic abnormally shaped head, low birth weight, prominent heels (‘rocker-bottom feet’), heart abnormalities, and severe learning disabilities. Prenatal screening (by *nuchal translucency scanning) and diagnosis (by *amniocentesis or *chorionic villus sampling) are possible. [J. H. Edwards (1928–2007), British geneticist]... edwards’ syndrome

Sex Chromatin

*chromatin found only in female cells and believed to represent a single X chromosome in a nondividing cell. It can be used to discover the sex of a baby before birth by examination of cells obtained by *amniocentesis or *chorionic villus sampling. There are two main kinds: (1) the Barr body, a small object that stains with basic dyes, found on the edge of the nucleus just inside the nuclear membrane; (2) a drumstick-like appendage to the nucleus in neutrophils (a type of white blood cell).... sex chromatin

Chromosomal Abnormalities

Variations from normal in the number or structure of chromosomes contained in a person’s cells. The cause is generally a fault in the process of chromosome division, either during the formation of an egg or sperm, or during the first few divisions of a fertilized egg. Chromosomal abnormalities are classified according to whether they involve the 44 autosomes or the 2 X and Y sex chromosomes. A complete extra set of chromosomes per cell is called polyploidy and is lethal.

Autosomal abnormalities cause physical and mental defects of varying severity. Some types of autosomal abnormality, known as trisomy, consist of an extra chromosome on 1 of the 22 pairs of autosomes. The most common trisomy is Down’s syndrome. Sometimes, part of a chromosome is missing, as in cri du chat syndrome. In translocation, a part of a chromosome is joined to another, causing no ill effects in the person but a risk of abnormality in his or her children.

Sex chromosome abnormalities include Turner’s syndrome, in which a girl is born with a single X chromosome in her

cells instead of 2, causing physical abnormalities, defective sexual development, and infertility. A boy with 1 or more extra X chromosomes has Klinefelter’s syndrome, which causes defective sexual development and infertility. The presence of an extra X chromosome in women or an extra Y chromosome in men normally has no physical effect but increases the risk of mild mental handicap.

Chromosomal abnormalities are diagnosed by chromosome analysis in early pregnancy, using amniocentesis or chorionic villus sampling.... chromosomal abnormalities

Chromosome Analysis

Study of the chromosomes in body cells to discover whether a chromosomal abnormality is present or to establish its nature. Fetal cells for analysis can be obtained in the uterus by amniocentesis or chorionic villus sampling. If a serious abnormality such as Down’s syndrome is identified, termination of the pregnancy and genetic counselling is offered. Chromosome analysis is also carried out when a baby is stillborn without an obvious cause, or is born with abnormal physical characteristics that suggest a chromosomal defect, such as Turner’s sydrome.

Chromosome analysis in children and adults uses white blood cells taken from a blood sample. Analysis of the sex chromosomes may be carried out to establish the chromosomal sex of a child in cases where the genitals have an ambiguous appearance (see genitalia, ambiguous); to confirm or exclude the diagnosis of chromosomal abnormalities; or to investigate infertility.... chromosome analysis

Haemolytic Disease Of The Newborn

Excessive haemolysis (destruction of red blood cells) in the fetus and newborn by antibodies produced by the mother. Haemolytic disease of the newborn is most often caused by Rhesus incompatibility. This occurs when a mother with Rh-negative type blood, who has previously been exposed to Rh-positive blood through birth, miscarriage, abortion, or amniocentesis, is pregnant with a baby that has Rh-positive blood. Haemolytic disease has become uncommon since the introduction of routine preventative treatment for Rh-negative women during pregnancy (see anti-D (Rh) immunoglobulin).

In mild cases of haemolytic disease, the newborn baby becomes slightly jaundiced during the first 24 hours of life (due to excess bilirubin in the blood) and slightly anaemic. In more severe cases, the level of bilirubin in the blood may increase to a dangerous level, causing a risk of kernicterus (a type of brain damage). Severely affected babies have marked anaemia while still in the uterus. They become swollen (hydrops fetalis) and are often stillborn.

In mild cases, no treatment is necessary. In other cases, the aim is to deliver the baby before the anaemia becomes severe, usually by induction of labour at 35–39 weeks’ gestation. If the baby is too young to be delivered safely, fetal blood transfusions may be necessary. After birth, phototherapy (light treatment that converts bilirubin in the skin into a water-soluble form that is more easily excreted from the body) can help to reduce jaundice. An exchange blood transfusion may be needed.... haemolytic disease of the newborn

Haemophilia

An inherited bleeding disorder caused by deficiency of a blood protein, factor VIII, which is essential for blood clotting. Haemophiliacs suffer recurrent bleeding, usually into their joints, which may occur spontaneously or after injury. The lack of factor is due to a defective gene, which shows a pattern of sex-linked inheritance; haemophilia affects males in most cases.

Episodes of bleeding are painful and, unless treated promptly, can lead to joint deformity. Injury, and even minor operations such as tooth extraction, may lead to profuse bleeding. Internal bleeding can lead to blood in the urine or extensive bruises.Haemophilia is diagnosed by bloodclotting tests, and by amniocentesis or chorionic villus sampling in a fetus.

Bleeding can be prevented or controlled by infusions of factor concentrates.... haemophilia

Neural Tube Defect

A developmental failure affecting the spinal cord or brain of the embryo. The most serious defect is anencephaly (total lack of a brain), which is fatal. More common is spina bifida, in which the vertebrae do not form a complete ring around the spinal cord. Spina bifida can occur anywhere on the spine, but it is most common in the lower back.

There are different forms of spina bifida. In spina bifida occulta, the only defect is a failure of the fusion of the bony arches behind the spinal cord, which may not cause any problems. When the bone defect is more extensive, there may be a meningocele, a protrusion of the meninges, or a myelomeningocele, a malformation of the spinal cord. Myelomeningocele is likely to cause severe handicap, with paralysis of the legs, loss of sensation in the lower body, hydrocephalus, and paralysis of the anus and bladder, causing incontinence. Associated problems include cerebral palsy, epilepsy, and mental handicap.

Surgery is usually performed a few days after birth. In mild cases, the defect can usually be corrected, but in myelomeningocele, some handicap will remain.

Genetic factors play a part in neural tube defects, which show multifactorial inheritance. Couples who have had an affected child or who have a family history of neural tube defects should seek genetic counselling. The risk of a neural tube defect occurring can be substantially reduced if the mother takes folic acid supplements for a month before conception and during the early part of the pregnancy.

Ultrasound scanning and amniocentesis allow accurate antenatal testing for neural tube defects.... neural tube defect

Rhesus Incompatibility

A mismatch between the blood group of a Rhesus (Rh)-negative pregnant woman and that of her baby. In certain circumstances, this mismatch leads to haemolytic disease of the newborn.

The Rh system is based on the presence or absence in the blood of several factors, the most important of which is a substance called D antigen. Rh-positive blood contains D antigen, whereas Rhnegative blood does not. The blood type is determined by genes.Rhesus incompatibility results if a Rhnegative woman is exposed to the blood of her Rh-positive baby while it is being born. There are usually no problems during the first pregnancy with a Rh-positive baby. However, the woman may produce antibodies against the D antigen; in a subsequent pregnancy with a Rh-positive baby, these antibodies may cross the placenta and attack the red blood cells of the fetus. A Rhnegative woman can also be sensitized if she has had a miscarriage, abortion, or amniocentesis, in which the fetus’s Rhpositive blood enters her circulation.

Rhesus incompatibility is now uncommon because injections of anti-D(Rh0) immunoglobulin are given routinely to Rh-negative women during pregnancy and at delivery. They are also given after miscarriage, abortion, amniocentesis, or any procedure that might result in exposure of the mother to fetal blood cells.... rhesus incompatibility

Trisomy

The presence of an extra chromosome within a person’s cells, making 3 of a particular chromosome instead of the usual 2. A fault during meiosis to form egg or sperm cells leaves an egg or sperm with an extra chromosome. When the egg or sperm takes part in fertilization, the resulting embryo inherits an extra chromosome in each of its cells.

The most common trisomy is of chromosome 21 (Down’s syndrome). Trisomy 18 (Edward’s syndrome) and trisomy 13 (Patau’s syndrome) are less common; trisomy 8 and trisomy 22 are very rare. Partial trisomy, with only part of a chromosome in triplicate, also occurs. Full trisomies cause abnormalities such as skeletal and heart defects and learning difficulties. Except in Down’s syndrome, babies usually die in early infancy. The effects of partial trisomies depend on the amount of extra chromosomal material present.

Diagnosis is made by chromosome analysis of cells, which may be obtained from the fetus by amniocentesis or after the birth. There is no specific treatment. Parents of an affected child should seek genetic counselling.... trisomy

Doppler Ultrasound

a diagnostic technique that utilizes the fact that the frequency of sound or light waves changes when they are reflected from a moving surface (the Doppler effect). It is used to study the flow in blood vessels and the movement of blood in the heart. The frequency detector may be part of an ultrasound imaging probe, which displays an image of the anatomy on a monitor. Simultaneously the Doppler signal from a particular point on the ultrasound image can be displayed superimposed on the anatomical position (duplex imaging). Using electronic techniques, direction and velocity of blood flow can each be allocated different colours and displayed on a colour monitor over the anatomical image (colour flow ultrasound imaging). Power Doppler, a modification of this technique, is more sensitive at detecting flow but does not give information on direction of flow. Doppler ultrasound is a valuable technique to detect vessel thrombosis, such as deep vein thrombosis, and can be safely used in pregnancy without the risk of ionizing radiation. It is extensively used in vascular surgery to assess the status of the blood vessels before surgery, especially in carotid surgery. Doppler measurement of the fetal middle cerebral vessels (MCA Doppler) can predict fetal anaemia as the resistance in these vessels is increased. This noninvasive technique has supplanted serial amniocentesis/fetal cord blood sampling in cases of *haemolytic disease of the newborn. Doppler of other fetal vessels (e.g. the ductus venosus) is used as a screening method for fetal chromosomal and cardiac defects and, later, fetal growth restriction. [C. J. Doppler (1803–53), Austrian physicist]... doppler ultrasound

Fragile-x Syndrome

a major genetic disorder caused by a constriction near the end of the long arm of an *X chromosome: it is inherited as an X-linked *dominant characteristic. The fragile-X syndrome is second only to *Down’s syndrome as a cause of learning disability. Affected males have unusually high foreheads, unbalanced faces, large jaws, long protruding ears, and large testicles. They have an IQ below 50 and are prone to violent outbursts. Folic acid helps to control their behaviour. About one-third of the females with this mutation on one of their two X chromosomes also show developmental delay. Screening for the characteristic chromosome can be done by *amniocentesis or *chorionic villus sampling.... fragile-x syndrome

Prenatal Diagnosis

(antenatal diagnosis) diagnostic procedures carried out on pregnant women in order to detect the presence of genetic or other abnormalities in the developing fetus. Ultrasound scanning (see ultrasonography) remains the cornerstone of prenatal diagnosis. Other procedures include chromosome and enzyme analysis of fetal cells obtained by *amniocentesis or, at an earlier stage of pregnancy, by *chorionic villus sampling (CVS). Noninvasive prenatal diagnosis involves a blood test to analyse cell-free fetal DNA in maternal blood. It can be performed during the first trimester and is used for fetal rhesus (Rh) determination in Rh-negative mothers, fetal sex determination in pregnancies at risk of sex-linked disorders, and for some single-sex gene disorders (e.g. achondroplasia). Compare prenatal screening.... prenatal diagnosis

Spina Bifida

(rachischisis) a developmental defect in which the newborn baby has part of the spinal cord and its coverings exposed through a gap in the backbone. The symptoms may include paralysis of the legs, incontinence, and learning disabilities from the commonly associated brain defect, *hydrocephalus. Spina bifida is associated with an abnormally high level of *alpha-fetoprotein in the amniotic fluid surrounding the embryo. The condition can be diagnosed at about the 16th week of pregnancy by a maternal blood test and confirmed by amniocentesis and ultrasound. The risk of spina bifida is reduced if supplements of *folic acid are taken by women while trying to conceive and during the first three months of pregnancy. See also neural tube defects.... spina bifida



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