[Application of quantitative fluorescence PCR for the prenatal diagnosis of common fetal chromosomal aneuploidies].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

PubMedID: 26418981

Liu X, Zhang Y, Cui W, He R, Zhao Y. [Application of quantitative fluorescence PCR for the prenatal diagnosis of common fetal chromosomal aneuploidies]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015;32(5):635-40.
OBJECTIVE
To assess the value of quantitative fluorescence PCR (QF-PCR) for the prenatal diagnosis of common fetal chromosomal aneuploidies.

METHODS
A total of 2436 amniotic fluid samples were collected at 18 to 22 gestational weeks.Multiplex QF-PCR was performed with fluorescence-labeled primers specific for 32 polymorphic short tandem repeat (STR) sites on chromosomes 21, 18, 13, X and Y. The PCR products were assayed by capillary electrophoresis. All samples were also assayed by karyotyping.

RESULTS
Seventy-six (3.12%) samples were diagnosed as chromosomal aneuploidies by QF-PCR, among which 51 were trisomy 21, 12 were trisomy 18, 2 were trisomy 13, and 1 was triploidy.

THE RESULTS
were all consistent with those of karyotyping.Ten samples were suspected as sex chromosomal aneuploidies, among which 9 were confirmed, except for 1 case with X structural abnormality. In addition, karyotyping has diagnosed 24 (0. 99%) cases of structural abnormalities, only one of which was suspected by QF-PCR with partial abnormal STR results. Two (0. 08%) samples were found to be mosaic by karyotyping, one of which was suggested by QF-PCR with cut-off ratios of STR markers.

CONCLUSION
QF-PCR is reliable for the diagnosis of numerical abnormalities of chromosomes 21, 18, 13, X and Y.The method can serve as an effective technique for rapid prenatal screening of common chromosome aneuploidies in fetus.