prehensive introduction without becoming overly involved with specific details. In a practical sense, various examples are used to illustrate issues or principles. The authors hope it will provide a starting point for practitioners not previously exposed to neonatal practice, and as a basic resource to finding techniques for the clinician facing these issues in practice. The work of the second author, with his various colleagues, is already exten- sive and has naturally been drawn upon for research resources and clinical technique. This chapter has in no way attempted to reproduce that work or its comprehensiveness. Rather, it has been the goal to return to many of the original sources of the work, particularly the Handbook of Pediatric Psychology ( Wright, et al., 1979) with the first author trying to extract those sources most pertinent to a general understanding of the issues and to supplement those references with additional information not available at that time. GENETIC COUNSELING AND BIRTH DEFECTS Gordon ( 1971) presented comparisons of infant mortality rates for congenital malformations and diarrheal infections or diseases. In the period from 1910 to 1965 the relative proportions of actual deaths for these causes reversed. In 1965 six infants died from various congenital causes for each one from infections. At the same time, deaths from congenital malformation dropped by 3.2%, from 6.8 to 3.6%. Clearly there are now more surviving congenitally malformed infants than previously, with similar statistics reported by Estes ( 1970). Saxén and Rapola ( 1969) place the total incidence of congenital defect at approximately ten percent of human embryos, stillbirths and live births. Half of these defects are embryonic, with the other half detected at birth or in follow-up studies. This five % of embryonic defects is also found in the estimates of morbid and mortal defects at birth or in follow-up reported by Golub ( 1969), Gordon ( 1971), and Townes ( 1970). Accurate data on the lethality of embryonic defects is not known, but is estimated at about 25% of spontaneous abortions. Carr ( 1967) and Inhorn ( 1967) estimate that twenty % of human pregnancies abort spontaneously. Statistics on stillbirths are of questionable value ( Saxén and Rapola, 1969), but these same authors suggest that approximately.5 percent of the total liveborn population presents potentially lethal congenital defect. Murphy and Chase ( 1975) present a current review of genetics and the influ- ence upon these statistics, as well as upon prenatal diagnosis. Gordon ( 1971) covers similar topics. Wright et al. ( 1979) present a brief review of the material from a variety of sources. Gordon ( 1971) states that a 2.5% risk factor is used for the general population probability, to compare the specific risk for problems in a single family. Genetic counseling becomes appropriate when the probability of defect passes this point. The potential benefit of genetic counseling is seen when one considers that 6% of hospital admissions in pediatrics involve a condition -2- |