Abstract：Objective To investigate the effect of quantitative fluorescent PCR (QF-PCR) combined with chromosome karyotype analysis in prenatal diagnosis. Methods A total of 388 pregnant women in the second trimester of pregnancy who underwent amniocentesis at the Prenatal Diagnosis Center, Huizhou Second Maternal and Child Health Hospital from September 2022 to May 2023 were selected as the study objects. Chromosome karyotype analysis and QF-PCR were performed on all the enrolled women. Using chromosome karyotype analysis as the standard, the application value of QF-PCR in prenatal diagnosis was analyzed. Results In 388 cases of amniotic fluid, QF-PCR detected one case of maternal blood contamination. Among the 388 subjects, 17 cases of chromosome aneuploidy were detected by QF-PCR, including 10 cases of trisomy 21, 2 cases of trisomy 18, 1 case of trisomy 13, and 4 cases of sex chromosome abnormality. It was consistent with the results of chromosome karyotype analysis. Chromosome karyotype analysis of 13 cases of structural abnormalities, QF-PCR technology did not detect. Conclusion QF-PCR can identify maternal blood contamination and detect it quickly, which can make up for the lack of long karyotype analysis time. Chromosome karyotype analysis can supplement the deficiency of QF-PCR technology for the detection of other chromosome abnormalities, and the combination of the two methods can play a complementary role, which is conducive to reducing birth defects.
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