Sixteen years of prenatal consultations for the N370S/N370S Gaucher disease genotype: what have we learned?

OBJECTIVE

Although prenatal diagnosis and genotyping are available for Gaucher disease, genetic counseling for an affected child's parents reflects the inability to predict disease course with certainty. The purpose of this survey is to ascertain disease status of children identified by prenatal screening.

METHODS

All carrier couples for glucocerebrosidase mutations who were counseled at our large Gaucher Clinic were included; none had genotyped the fetus. Medical status of children was assessed by questionnaires and data were collected from clinic charts and/or telephone contact with the parents.

RESULTS

Of 34 children born, 1 died in utero, 5 fetuses (N370S/N370S) aborted. Of 21 genotyped N370S/N370S, 7 children had Gaucher-like symptoms/signs but for only one child (two symptoms) were these ascribable to Gaucher disease; four children had non-Gaucher symptoms/signs.

CONCLUSION

Of 21 children whose parents pursued prenatal counseling for Gaucher disease and were found to have the N370S/N370S genotype, none has presented with severe disease with follow-up of 15 years. The Israeli experience shows that Gaucher disease N370S screening does not identify children requiring treatment, but rather leads to termination of asymptomatic fetuses; this may lead to reconsideration of guidelines regarding Gaucher screening.