Prenatal prediction of risk of the fetal hydantoin syndrome

Article Abstract:

Infants born to mothers who take anticonvulsant drugs have a substantial incidence of congenital abnormalities, with results from the use of one drug, phenytoin, perhaps the most extensively characterized. This syndrome (fetal hydantoin syndrome) is characterized by an abnormal-appearing head and face, growth deficiencies, mental retardation, and limb defects. It is thought that compounds formed as the body breaks down phenytoin are the agents that cause the birth defects - in particular, an enzyme called epoxide hydrolase. If this enzyme is sufficiently active, then metabolism occurs relatively quickly, and toxic intermediate forms cannot harm the developing fetus. If, however, epoxide hydrolase has lower activity, then the chemical reactions that break down the drug proceed slowly, exposing the fetus to possible teratogens (defect-causing agents). To test whether at-risk fetuses could be identified before birth by measuring enzyme activity, cells from small samples of amniotic fluid (amniocytes) were removed from pregnant women who were under treatment with phenytoin. These were evaluated for their levels of epoxide hydrolase activity. The babies, when born, were examined to determine whether they met diagnostic criteria for fetal hydantoin syndrome. Results showed that four fetuses had epoxide hydrolase activity less than 30 percent of the standard, while 15 had enzyme activity levels within normal range. All four low-enzyme-activity infants were judged as having fetal hydantoin syndrome, while the remaining 15 appeared normal. Additional research performed as part of the study suggested that epoxide hydrolase is an enzyme controlled by a single recessive gene and levels of activity for this enzyme in amniocytes were established. Overall, the results imply that evaluation of the activity of epoxide hydrolase may help identify infants with fetal hydantoin syndrome within an at-risk population. (Consumer Summary produced by Reliance Medical Information, Inc.)

Research, Complications and side effects, Risk factors (Health), Teratogenic agents, Phenytoin

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Thermocoagulation for the early treatment of pregnancy with an acardiac twin

Article Abstract:

Thermocoagulation should be used in all twin pregnancies where one twin is acardiac. This means that the fetus has no heart and many other organs fail to develop properly. When this happens, the acardiac twin siphons blood from the normal twin, causing problems in the normal twin. Researchers used thermocoagulation in four pregnant women with an acardiac twin to stop the abnormal twin from diverting blood from the normal twin. In this technique, an electrode is inserted into a major blood vessel of the acardiac twin and heat is used to block blood flow. The normal twins were born healthy at term whereas the acardiac twin was born dead.

Health aspects, Twins, Electrocoagulation

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Increased nuchal translucency as a marker for fetal chromosomal defects

Article Abstract:

Defects in the fetal head and neck visible by ultrasound may indicate chromosomal abnormalities. Researchers performed transvaginal ultrasound on 10,010 pregnant women at 10-15.9 weeks gestation. Evidence of fluid accumulation in the neck or a fluid-filled growth on the head was detected in 76 fetuses. Subsequent testing showed abnormal chromosomes in 24% of these fetuses. Ultrasound effectively identified 69% of cases of chromosomal abnormalities like Down's Syndrome. This test may reduce the need for more invasive testing during pregnancy.

Methods, Ultrasound imaging, Identification and classification, Genetic screening, Genetic testing, Human chromosome abnormalities

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