Risk may outweigh benefit of prenatal screen for Gaucher’s

January 9, 2008

Prenatal screening for Gaucher’s disease, an inherited disorder with a variable phenotype, results in the pregnancy termination of a modest number of affected fetuses, including some that are likely to have had asymptomatic or mild disease, according to a report published in the Sept. 19 issue of the Journal of the American Medical Association.

Prenatal screening for Gaucher’s disease, an inherited disorder with a variable phenotype, results in the pregnancy termination of a modest number of affected fetuses, including some that are likely to have had asymptomatic or mild disease, according to a report published in the Sept. 19 issue of the Journal of the American Medical Association.

Shachar Zuckerman, MSc, of Shaare Zedek Medical Center in Jerusalem, and colleagues examined the outcomes of screening practices for Gaucher’s disease in Israel.

The frequency of Gaucher’s disease gene carriage was 5.7%. Eighty-three carrier couples were identified from 28,893 individuals screened, most of which were at risk for having offspring with asymptomatic or mild disease. Prenatal testing identified 16 fetuses with Gaucher’s disease, which led to pregnancy termination of two

of 13 fetuses predicted to be asymptomatic or have mild disease, and two of three fetuses with predicted moderate disease. Pregnancy termination was less likely in patients who received medical counseling with a Gaucher’s disease expert.

“Not until clinicians and researchers better understand the factors that determine whether a patient homozygous for the N370S mutation will develop severe disease or none at all will screening for Gaucher’s disease become useful,” according to an editorial. “Until then, screening for Gaucher’s disease will likely do more harm than good.”

Zuckerman S, Lahad A, Shmueli A, et al. Carrier screening for Gaucher disease lessons for low-penetrance, treatable diseases. JAMA. 2007;298:1281-1290.