Carrier screening for type 1 Gaucher disease: difficult questions

摘要

Since the introduction and success of the Tay-Sachs carrier screening programme in the 1970s, carrier screening for diseases common in the Ashkenazi Jewish community has expanded. The carrier screening panel now commonly offered includes up to 14 autosomalrecessive diseases. A recent article examined the scope and outcomes of carrier screening for type 1 Gaucher disease (GD) in Israel.Zuckerman et al reported that 10 Israeli genetic centres screened an estimated 28 893 individuals for GD between 1995 and 2003, identifying 82 carrier couples at risk for offspring affected by GD type 1. In subsequent pregnancies of these couples, there was a 76% uptake of prenatal diagnosis, leading to a termination of pregnancy for 15% (2 of 13) of the fetuses predicted to be no more than mildly affected and 67% (two of three) of the fetuses with predicted moderate disease.