Neonatal Screening: From 1 Different Sources
*screening tests carried out on newborn babies to detect diseases that appear in the neonatal period, such as phenylketonuria (see Guthrie test). If these diseases are detected early enough, treatment may be instigated before any irreversible damage occurs to the baby.
The use of procedures and measures to identify and differentiate apparently well persons who have a disease or condition or a high risk thereof from those who probably do not have the disease or condition.... screening
The screening of apparently healthy people to identify those who may have treatable diseases. Cervical smears are done when screening women to detect if they have cancer or precancer of the neck of the womb (cervix). Newborn babies are screened for hip dislocation. Screening tests are not designed to diagnose individual persons, but rather to divide a population into a large number at low risk and a small number at high risk of a condition. This allows clinicians to concentrate on a sub-section of the population. All screening tests produce false negative and false positive results, a problem often misunderstood by those at the receiving end. Factors to be assessed when planning screening procedures include the severity, frequency and distribution of the disease, and the availability and e?ectiveness of treatment. Convenience, safety, sensitivity and cost should also be assessed. In the United Kingdom the government has supported the extension of screening procedures for breast cancer, cervical cancer, hypertension and diabetes. (See PREVENTIVE MEDICINE.)... screening test
A set of investigations aimed at the early detection of breast cancer. It includes self-screening by monthly examination of the breasts, and formal programmes of screening by palpation and mammography in special clinics. In the UK the NHS o?ers regular mammography examinations to all women between 50 and 64 years of age; in 1995–6, 1.1 million women were screened – 76 per cent of those invited. More than 5,500 cancers were detected – 5.3 per 1,000 women screened.... breast screening
Pertaining to the ?rst month of life.... neonatal
The provision of a dedicated unit with special facilities, including one-to-one nursing and appropriate technology, for caring for premature and seriously ill newborn babies. Paediatricians and neonatologists are involved in the running of such units. Not every maternity unit can provide intensive care: for example, the provision of arti?cial ventilation, other than as a holding procedure until a baby can be transferred to a better-equipped and better-serviced unit. Such hospitals tend to have special-care baby units, which are capable of looking after the needs of most, but not all, premature or ill babies.... neonatal intensive care
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
Tests to detect early signs of cancer in groups of people who are susceptible to cancer because of their age, occupation, lifestyle, or genetic predisposition. Tests for cancers of the cervix (see cervical smear test), breast (see mammography), bladder, and colon have proven to be effective.... cancer screening
A very common, harmless skin condition, also known as erythema neonatorum or toxic erythema, that affects newborn infants. A blotchy rash, in which raised white or yellow lumps are surrounded by illdefined red areas of inflammation, forms, mainly affecting the face, chest, arms, and thighs. The cause of neonatal urticaria is unknown. The rash usually clears up without treatment.... urticaria, neonatal
*screening tests to detect the presence of precancerous changes in the cervix (neck) of the uterus (see cervical intraepithelial neoplasia). *Cervical smears are the standard first-line screening tools in most countries: screening programmes based on the traditional Papanicolaou (Pap) test have been mostly superseded by *liquid-based cytology. *Colposcopy is indicated when abnormal cells (*dyskaryosis) are detected.... cervical screening
a screening tool for young people under the age of 21 to identify alcohol and drug use. The first part consists of three questions about drug or alcohol use over the past year. Participants giving positive answers to two or more questions proceed to the second part (from which the name derives), which contains six questions with the key words car, relax, alone, family/friends, forget, trouble, used to assess the need for further input.... crafft screening test
see perinatal mortality rate.... early neonatal death
death of a baby between 7 and 27 completed days of life.... late neonatal death
see MUST.... malnutrition universal screening tool
(NAS) symptoms and signs exhibited by a newborn baby (neonate) due to drug withdrawal (see dependence). This results when the fetus has been exposed to addictive drugs through maternal substance abuse or misuse. Symptoms tend to occur in the first few days of life (in the case of methadone, which is a long-acting opioid, symptom onset may be delayed). They include tremors and jerking, high-pitched crying, sneezing, sucking of fists, feeding difficulties, shortened periods of sleep between feeds, rapid breathing, sweating, loose stools, nasal stuffiness, and frequent yawning. Treatment includes swaddling or snugly wrapping in a blanket, as babies with NAS are often difficult to comfort. Other nonpharmacological measures include frequent small feeds using high-calorie formula and intravenous fluids if babies become dehydrated. Drug therapy may be used for seizures and withdrawal symptoms.... neonatal abstinence syndrome
an assessment tool for newborn babies, consisting of a chart in which a combination of *vital signs, neurological involvement, observation of blue skin and lips, and level of behavioural response indicate the appropriate level of concern. It is colour-coordinated from red to green to enable standardized escalation of concerns about the sick baby.... neonatal early warning score
see infant mortality rate.... neonatal mortality rate
teeth that emerge through the gingiva (gums) during the first month of life.... neonatal teeth
see erythema.... neonatal urticaria
*screening tests carried out to estimate the risk of chromosomal or other abnormalities being present in a developing fetus. They include blood tests to measure levels of *human chorionic gonadotrophin (hCG), *PAPP-A, *alpha-fetoprotein (AFP), inhibin (see activin), and *unconjugated oestriol (uE3) (see also triple test) and also ultrasound scanning for the presence of soft markers (see ultrasound marker; nuchal translucency scanning). If the results indicate a high risk of abnormalities being present, a diagnosis may be confirmed by more invasive procedures (see prenatal diagnosis).... prenatal screening
the use of an image intensifier to produce *real-time imaging during an X-ray examination on a TV monitor. It is widely used in angiography and *interventional radiology to guide procedures. See videofluoroscopy.... x-ray screening