Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases
S Zuckerman, A Lahad, A Shmueli, A Zimran, L Peleg… - Jama, 2007 - jamanetwork.com
ContextThe aim of carrier screening is to prevent severe, untreatable genetic disease by
identifying couples at risk before the birth of an affected child, and providing such couples
with options for reproductive outcomes for affected pregnancies. Gaucher disease (GD) is an
autosomal recessive storage disorder, relatively frequent in Ashkenazi Jews. Carrier
screening for GD is controversial because common type 1 GD is often asymptomatic and
effective treatment exists. However, screening is offered to Ashkenazi Jews worldwide and …
identifying couples at risk before the birth of an affected child, and providing such couples
with options for reproductive outcomes for affected pregnancies. Gaucher disease (GD) is an
autosomal recessive storage disorder, relatively frequent in Ashkenazi Jews. Carrier
screening for GD is controversial because common type 1 GD is often asymptomatic and
effective treatment exists. However, screening is offered to Ashkenazi Jews worldwide and …
