Experiences in molecular-based prenatal screening for Ashkenazi Jewish genetic diseases

Abstract

Multiple-option prenatal carrier testing in the Ashkenazi Jewish community for three and now eight disorders has been readily accepted in this prenatal, health-oriented and knowledgeable population. Counseling of screenees concerning the nature (severity, treatability, etc.), inheritance, and frequencies of each disorder was essential for informed test choices and future reproductive decision making. The value of couple testing for a group of disorders when 1 in about 6 would be found to be a carrier of at least one disease was emphasized. These studies identified issues of education, confidentiality, posttest anxiety, and self-esteem that must be continuously addressed in the Ashkenazi population. However, an important value of these studies is that they provide a framework for the development of mass carrier screening programs in the general population or in specific segments of the population with similar demographic characteristics and in more diverse prenatal populations.