Clinical consequences of an increasing trend of preferential use of cultured villi for molecular diagnosis by CVS.

Objective: To compare the use of uncultured versus cultured villus cells for DNA-based prenatal diagnosis.

Methods: A retrospective review of molecular testing of chorionic villus sampling (CVS) cases from 1988-2007. Method of analysis, gestational age (GA) at CVS and at diagnosis, time from procedure to results, results of maternal contamination studies, and the laboratory employed were abstracted from patient charts.

Association of undetectable unconjugated estriol on multiple marker screening with steroid sulfatase deficiency.

Objective: To determine whether all patients with undetectable unconjugated estriol (uE3) on multiple marker screening (MMS) are carriers for steroid sulfatase (STS) deficiency.

Methods: This is a retrospective review of 65 pregnancies with undetectable uE3 on MMS.

Results: Of the 65 pregnancies, there were 21 that continued, 40 spontaneous losses, 2 lost to follow-up and 2 elective terminations.