부산대학교 도서관

Purpose: To determine current practices of genetic counseling and screening for consanguineous couples, their pregnancies and children, and to compare these practices to recommendations in the literature.Methods: A questionnaire was mailed to 1582 board certified genetic counselors and medical geneticists in the United States.Results: The return rate was 20% (n = 309). There was wide variation in the risk figures quoted to consanguineous couples to have offspring with birth defects and mental retardations (1 to 75 for incest between first-degree relatives, and 0.25 to 20% for first cousin unions). Suggested screening practices differed for consanguineous unions before conception, during pregnancy, following birth, and for children placed for adoption. Most respondents recommended screening based on ethnicity, yet disagreed as to which genetic disorders to include.Conclusions: To standardize genetic services, guidelines for screening the offspring of consanguineous unions are needed. A consensus should be reached as to the empirical risks for genetic disorders, birth defects, and mental retardation that may impair the offspring of consanguineous unions, with definitions as to what these disorders are, and if the data applies to global populations. Guidelines should consider costs, the sensitivity and specificity of DNA and biochemical testing, and current practices of prenatal and newborn screening. Consideration should be given to screening based on ethnicity, particularly in populations where consanguineous unions are common, while remaining sensitive to cultural belief systems. Recommendations for screening healthy children from consanguineous unions to be placed for adoption pose ethical challenges.