Noninvasive prenatal screening of fetal aneuploidies by quantitative fluorescence PCR: evaluation of the in-vitro diagnostic test kit ‘Aneufast’ for plasma cell-free fetal DNA

ObjectiveRapid prenatal diagnosis of common aneuploidies (21, 18, 13 trisomy and sex chromosome) can be performed by the quantitative fluorescence PCR (QF-PCR) of Short Tandem Repeat. The main advantages of the QF-PCR are its rapidity (∼48 h), accuracy, automation, and detection of the origin of aneuploidies. Furthermore, it represents an additional contribution toward routine karyotype analysis. Recently, the Aneufast kit has become commercially available for in-vitro diagnosis of common chromosome aneuploidies using amniotic fluid by QF-PCR. MethodsIn this study, we have evaluated the Aneufast kit for plasma cell-free fetal DNA (cff DNA) and the results were confirmed by QF-PCR for cord blood. Six hundred and ninety-four pregnant women were recruited; 487 women were followed up until delivery. Venous maternal samples were collected for cff DNA and cord blood was collected at the time of delivery; all samples were analyzed by QF-PCR using the Aneufast in-vitro diagnostic kit. ResultsFour hundred and seventy-one samples showed normal QF-PCR out of 487 samples for cff DNA, whereas in cord blood, 473 showed normal results. Sixteen samples with different aneuploidies were identified; they included trisomy 21 (n=10), trisomy 18 (n=3), trisomy 13 (n=2), 45, and X (n=1). Cord blood analysis revealed that the following: trisomy 21(n=9), trisomy 18 (n=3), trisomy 13 (n=1), 45, and X (n=1). ConclusionQF-PCR using the Aneufast kit is a useful tool for rapid screening of common aneuploidies using cff DNA, and the positive result has to be confirmed by amniocentesis.