Wu Yi, Wang Yan-Lin, Liu Chun Min, Han Xu, Hu Wen Jing and Cheng Wei-Wei
Objective: Cytogenetic analysis, the gold standard in the diagnosis of fetal aneuploidies, requires the time-consuming generation of primary cell cultures, which limits the success rate of this technique. In this study, we examined the efficiency and accuracy of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid detection of fetal aneuploidy. Methods: Sixty pregnant women at high risk for fetal aneuploidies were recruited to the study group. Indications for invasive prenatal diagnosis were: advanced maternal age, positive biochemical screening, abnormal ultrasound findings and previous history of fetal abnormalities. All samples were tested by both QF-PCR and traditional karyotyping. Results: Twenty-six samples showed normal patterns. All normal samples were detected by QF-PCR without false positive or false negative results. All trisomies, including trisomies 21, 13, and 18, (n = 25, 2 and 2, respectively) were successfully detected by QF-PCR. Four Turner cases were identified by karyotyping, while only two were detected by QF-PCR. QF-PCR failed to accurately diagnose a balanced translocation. Conclusions: QF-PCR is a rapid and reliable method for prenatal diagnosis of the common chromosomal aneuploidies, especially trisomies 13, 18 and 21. This rapid and inexpensive technique may be a suitable prenatal screen in developing countries. Synopsis: QF-PCR is a rapid and reliable method for prenatal diagnosis of the common chromosomal aneuploidies. It may replace fluorescence in-situ hybridization as rapid prenatal screen.
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