Accuracy of Prenatal Diagnosis of Common Aneuploidies Using QF-PCR Comparing with Standard Karyotyping in Thai Pregnant Women
Keywords:
QF-PCR, prenatal diagnosis, aneuploidy, karyotypingAbstract
This study compared the efficacy of prenatal QF-PCR testing at a STR loci set and standard karyotyping for the detection of common fetal aneuploidy in Thai pregnant women. Genetic variations of the 21 STR markers were evaluated in a Thai population. Amniotic fluid or umbilical cord blood, together with buccal swabs, were collected from 648 volunteer pregnant women, all of whom were diagnosed as being at high risk of pregnancy with chromosomal abnormality. Twenty-two abnormal karyotyping-result samples were analyzed and compared with random 22 normal samples. QF-PCR was performed with the Devyser Compact v3 kit, while fragment analysis was conducted by capillary electrophoresis using the Applied Biosystems 3500 Genetic Analyzer, and genetic variation analysis was carried out with the forensic statistics analysis toolbox (FORSTAT) and GenAlEx 6.5. The QF-PCR and karyotyping results were identical, and no false positive or negative results were observed in either test. Heterozygosity, polymorphism information content (PIC), and power of discrimination (PD) were 76.1–95.2%, 0.54–0.92, and 0.744–0.970, respectively. All 21 STR markers of Thai pregnant women in this study displayed acceptable polymorphism and heterozygosity to be used as prenatal diagnosis. Further study in larger population about the polymorphism, cost-effectiveness and specimen transferring should be performed.
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