Genetic amniocentesis: a six-years experience in an isolated region of northeastern Quebec (Canada).

The indications, results and outcomes of 508 genetic amniocenteses performed during a 6-years period in Saguenay-Lac-St-Jean (SLSJ), a geographically isolated region of Quebec were reviewed. The geographical distribution of the residences showed that women living in urban communities were more likely to have an amniocentesis than those coming from rural communities. Advanced maternal age was the most frequent indication (62%) while a family history of hereditary disease was an indication in 9%, which is higher than in other published series. The rate of abnormal results in SLSJ was similar to those obtained in other series except for the rate found in amniocenteses done for hereditary diseases (4.3% versus 17.4-45.5%). All the pregnancies for which an abnormal result, but balanced translocations, was found were interrupted or ended spontaneously.