Objective
To provide prenatal counseling (PC) and prenatal diagnosis (PD) of Gaucher disease in pregnant women with previous affected sibling (s).
Patients and methods
PC was done in 154 pregnancies among 109 females from June 2000 to July 2018. Positive consanguinity was found in 98 (89.9%) couples. Chorionic villus sampling (CVS) was done between 11 and 12 weeks of gestational age in 115 pregnancies among 84 women. Two women had CVS in four pregnancies, five in three pregnancies, and 15 in two pregnancies. β-glucocerebrosidase activity was measured in chorionic villi.
Results
Of 154 pregnancies, 115 (74.68%) proceeded to CVS and 39 (25.32%) did not. Of the 39, 18 did not show up, eight already came late for PD, nine had missed or spontaneous abortion, three refused, and one had induced abortion before PD. In 110 (95.65%) pregnancies, enough chorionic villi were retrieved, and β-glucocerebrosidase was measured; 79 (71.82%) had normal enzyme activity and 31 (28.18%) had low activity. In five cases, we could not retrieve enough villi.
Conclusion
In spite of the presence of enzyme replacement therapy for Gaucher disease, it is not effective for all types, in addition to high cost and variable response. So, our responsibility in PC is to offer early diagnosis by CVS, as one of the options, to the pregnant women/couples.