Qin Shengfang, Wang Xueyan, Chen Ximin, Ye Mengling, Chen Chun, Wei Ping, Zeng Lan, Deng Yi, Li Yunxing, Xi Na, Song Xiao, Sun Lingling
Department of Medical Genetics and Prenatal Diagnosis, Maternal and Child Health Care Hospital of Sichuan Province, Chengdu, Sichuan 610045, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Apr 10;35(2):228-231. doi: 10.3760/cma.j.issn.1003-9406.2018.02.018.
To assess the accuracy of quantitative fluorescence PCR(QF-PCR) for the detection of fetal chromosomal aneuploidies and its values for prenatal diagnosis.
QF-PCR and chromosomal karyotyping were used to analyze 6066 amniotic fluid samples derived from 6034 pregnant women.
Both QF-PCR and karyotyping analysis have detected 135 cases of fetal aneuploidies involving chromosomes 21, 18, 13, X, and Y. The QF-PCR assay was also successful in 67 cases for which amniotic fluid culture has failed. Furthermore, it has identified maternal cell contamination in 7 cases. By determining the consistency of short tandem repeat (STR) sites, the QF-PCR assay has identified 22 dizygotic twins among 32 twins with double chorions and double amniotic sacs. In 12 cases, it has signaled numerical chromosomal aberration by critical or partial abnormal values for the fluorescence peak area ratio, which were verified by karyotyping analysis as mosaicisms of chromosome aneuploidies.
The QF-PCR can provide an useful supplement for chromosomal karyotyping and has an important role in rapid prenatal diagnosis.
评估荧光定量聚合酶链反应（QF-PCR）检测胎儿染色体非整倍体的准确性及其在产前诊断中的价值。
采用QF-PCR和染色体核型分析对6034例孕妇的6066份羊水样本进行分析。
QF-PCR和核型分析均检测出135例涉及21、18、13、X和Y染色体的胎儿非整倍体。对于7例羊水培养失败的样本，QF-PCR检测也获得成功。此外，QF-PCR还检测出7例母体细胞污染。通过确定短串联重复序列（STR）位点的一致性，QF-PCR在32例双绒毛膜双羊膜囊双胎中识别出22例双卵双胎。在12例样本中，QF-PCR通过荧光峰面积比的临界或部分异常值提示染色体数目畸变，经核型分析证实为染色体非整倍体嵌合体。
QF-PCR可为染色体核型分析提供有益补充，在快速产前诊断中具有重要作用。
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