山东潍坊地区29例性染色体异常的产前筛查与诊断

Prenatal screening and diagnosis of 29 cases of sex chromosome abnormalities in Weifang

目的探讨孕妇血浆游离DNA高通量测序对性染色体异常检出的效果及可行性,并分析母体血清学筛查、胎儿超声筛查和孕妇高龄对胎儿性染色体异常筛检的临床价值。方法对具有产前诊断指征的7 521例单胎孕妇进行游离DNA高通量测序或羊水细胞核型进行分析。结果应用血浆游离DNA高通量测序方法筛查出性染色体异常42例,其中29例与核型分析结果一致,阳性预测值为69.05%;在29例胎儿性染色体异常孕妇中,血清学筛查异常21例,超声指标异常10例,高龄妊娠12例。结论孕妇血浆游离DNA高通量测序可用于胎儿性染色体非整倍体异常的检测,阳性预测值偏低;以母体血清学筛查、B超筛查和高龄为产前诊断指征,对胎儿性染色体异常的检出具有一定价值。

Objective To investigate the clinical efficacy and feasibility of massively parallel sequencing（ MPS） of cell-free DNA from maternal plasma for detection of sex chromosomal aneuploidies and explore the value of serum screening,ultrasound and advanced maternal age to fetal sex chromosome abnormalities detection. Methods Totally 7 521 singleton pregnant women with prenatal diagnostic indicators were detected by using MPS or mid-trimester amniocentesis and chromosomal karyotype. Results MPS revealed 42 cases of sex chromosomal aneuploidies in 7 521 pregnant women,and 29 of them were validated by G-banding with positive predictive value of69. 05%. Among the 29 cases of sex chromosome abnormalities,there were 21 cases with positive serum screening,10 cases with abnormal ultrasound shows and 12 cases with advanced maternal age. Conclusion MPS based on maternal plasma cell-free DNA can be used to detect fetal sex chromosomal aneuploidies,but the positive predictive value is relatively low. Maternal serum screening,ultrasound and advanced maternal age are very important for the detection of sex chromosome abnormalities.