Detection of chromosome aneuploidies in spontaneous abortion villus samples by quantitative fluorescence PCR / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To assess the value of quantitative fluorescence polymerase chain reaction (QF-PCR) for the detection of chromosomal aneuploidies in chorionic villus samples from early abortion.</p><p><b>METHODS</b>One hundred seventy seven specimens were collected. Genomic DNA was extracted, and aneuploidies of 8 chromosomes (13, 15, 16, 18, 21, 22, X and Y) were detected by QF-PCR analysis.</p><p><b>RESULTS</b>The QF-PCR was successful in 176 (99.4%) of the cases. All detection was completed in 48 hours. Sixty three(35.8%) cases have shown abnormal signals, which included 3 cases of trisomy 13, 3 cases of trisomy 15, 14 cases of trisomy 16, 2 cases of trisomy 18, 7 cases of trisomy 22, 3 cases of trisomy 21, 13 cases of 45,X, 1 case of 47,XXX, 2 cases of 47,XXY, 2 cases of haploidy, 11 cases of triploidy, 1 case of trisomy 16 and trisomy 22, 1 case of trisomy 21 and trisomy 22. Trisomy 16 was the most common chromosome aneuploidy (22.22%), which was followed by 45,X (20.63%), triploidy (17.46%) and trisomy 22 (11.11%).</p><p><b>CONCLUSION</b>QF-PCR is a quick and easy method for detecting chromosomal aneuploidies in chorionic villi tissue. The results can provide important information for genetic counseling for spontaneous abortions.</p>