Clinical Correlates

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Prevention of Birth Defects

Many birth defects can be prevented. For example, supplementation of salt or water supplies with iodine eliminates mental retardation and bone deformities resulting from cretinism. Placing women with diabetes or PKU under strict metabolic control prior to conception reduces the incidence of birth defects in their offspring. Folate supplementation lowers the incidence of neural tube defects, such as spina bifida and anencephaly. Avoidance of alcohol and other drugs during all stages of pregnancy reduces the incidence of birth defects. A common denominator for all prevention strategies is to initiate interventions prior to conception. Such an approach also helps prevent low-birth-weight babies.

It is important for physicians prescribing drugs to women of childbearing age to consider the possibility of pregnancy and the potential teratogenicity of the compounds. Recently hundreds of children have been born with severe craniofacial, cardiac, and neural tube defects produced by retinoids (vitamin A embryopathy). These compounds are used for the treatment of cystic acne (isotretinoin, 13-cis-retinoic acid) but are also effective topically (Retin-A) for common acne and reducing wrinkles. Oral preparations are highly terato-genic, and recent evidence suggests that topical applications may also cause abnormalities. Since patients with acne are usually young and may be sexually active, these agents must be used cautiously.

Prenatal Diagnosis

The perinatologist has several approaches for assessing growth and development of the fetus in utero, including ultrasound, amniocentesis, chorionic villus sampling, and maternal serum screening. In combination, these techniques are designed to detect malformations, genetic abnormalities, overall fetal growth, and complications of pregnancy, such as placental or uterine abnormalities. Their use and development of in utero therapies have heralded a new concept in which the fetus is now a patient.

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