Introduction

Congenital anomalies, defined as malformations, deformations, and inherited disorders, account for 22% of infant deaths in the first year of life, and are currently the number one cause of infant mortality (Peters et al., 1997). This percentage has steadily increased as the relative importance of such public health problems as infectious diseases and malnutrition has diminished and as survival of preterm infants has increased.

Understanding the basic science of human development may provide some practical solutions for preventing congenital anomalies. For example, supplementing maternal folate intake prior to and during pregnancy may lower the risk of fetal neural tube defects, and avoiding exposure to identified toxic agents may prevent other malformations in the developing embryo. Many developmental abnormalities cannot be prevented, however, in particular those that disrupt the integrity of the blueprint provided to the embryo by its genetic material. Abnormalities with genetic etiologies may either be passed down by parents or may develop, de novo, during early stages of development.

Once an anomaly is destined to occur, the potential value of its identification in the fetus is to provide information that may be acted upon by the clinician and the parents. With means for early diagnosis, one might consider three options: First, for a lethal irreparable or potentially devastating anomaly, early termination might be a reasonable option to discuss with parents, within an appropriate social and religious context.