Determination of sensitivity and specificity of a novel gene dosage assay for prenatal screening of trisomy 21 syndrome.

Objective: To compare the gene dosage results achieved by a novel multiplex quantitative assay with cytogenetic and quantitative fluorescent polymerase chain reaction (QF-PCR) analysis for prenatal screening of trisomy 21 syndrome on corresponding fetal samples.

Design And Methods: Fetal samples (n=134) were collected from pregnant women considered high risk for having trisomy 21 affected fetus. Cytogenetic analysis and QF-PCR were performed.