Key Points

• Preconception care is an integral part of prenatal care and permits health promotion and early identification of risk factors that can then be treated before pregnancy

• Folic acid supplementation should be started before conception, if possible, or immediately on diagnosis of pregnancy.

Ideally, women should plan pregnancy and discuss this plan with their physicians. Often, however, this option is not considered. It becomes the task of the physician to anticipate the potential and discuss preparation for pregnancy just as for methods of birth control. Primary care physicians are in

Rates per 100,000 live births

the best position to anticipate the need for this counseling, being most aware of ongoing medical problems and social concerns of the women in their care. Indeed, the practice of preconception care has been formally recommended since at least 1989 (Caring for Our Future, 1989). However, we believe that preconception care, in particular education, should begin at the time a woman reaches reproductive age, not only when she announces the desire to become pregnant.

The preconception period is an ideal time for education and counseling regarding cessation of cigarette, alcohol, or drug use. Often, the incentive of a healthier pregnancy is sufficient impetus for change in behavior. Although many women are able to cease cigarette, alcohol, or drug use during the pregnancy, the majority will resume use after delivery or breastfeeding. This is an opportune time for the family physician to reinforce further health-conscious behavior.

The preconception use of folic acid supplementation was formally recommended by the U.S. Centers for Disease Control and Prevention (CDC) in 1991 and others (American Academy of Pediatrics, Committee on Genetics, 1999). Evidence supports a reduction in neural tube defects by 50% when folic acid stores are replenished before pregnancy (Milunsky et al., 1989). It is now recommended that all reproductive-age women take 0.4 mg of folic acid daily (CDC, 1992). This is easily accomplished by prescribing prenatal vitamins before pregnancy as well as throughout gestation. Alternately, over-the-counter (OTC) vitamins can also be used because many now contain this higher amount of folic acid. For couples with one or more children with a neural tube defect or a family history, there should be a referral for specific counseling. From 2 to 4 mg of folic acid daily is recommended for these women at least 1 month before pregnancy and during the first 3 months of pregnancy.

Many genetic disorders are now amenable to prenatal diagnosis through direct analysis of the underlying mutations, analysis of their protein products, or abnormal metabolites. Genetic counseling should include a systematic assessment of family history of both parents. This can be through a targeted questionnaire or formal genetic counseling by a genetic counselor or geneticist (Box 21-2). The family physician should be aware of the ethnic makeup of the practice and especially familiar with disorders in these groups (Table 21-1). When targeted screening reveals an area of potential concern, formal genetic counseling should be obtained. With advances in discovery of the genetic basis for many diseases, the list of disorders amenable to prenatal diagnosis grows daily.

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