【摘要】 探讨扩展性无创产前筛查(NIPS)技术对多类胎儿染色体异常疾病的临床应用价值。回顾性分析2018年11月-2019年11月在我院产科自愿选择扩展性NIPS的4 606例孕妇的筛查、产前诊断及随访结果。4 606例筛查中共检出40例胎儿染色体异常高风险,其中21-三体3例、13-三体4例、性染色体非整倍体21例、其他常染色体非整倍体6例、缺失重复综合征6例。37例行产前诊断,确诊21-三体3例、13-三体1例、性染色体异常10例和18号染色体部分缺失突变1例。不同年龄孕妇的胎儿异常高风险数无显著差异。超声软指标异常与正常孕妇间胎儿异常高风险数存在显著差异,但产前诊断确诊数并无统计学差异。扩展性NIPS适用于各年龄段孕妇进行多类胎儿染色体异常疾病的产前筛查,对出生缺陷防控具有重要应用价值。更多还原

【Abstract】 The present study aimed to explore the clinical application value of expanded non-invasive prenatal screening on multiple types of fetal chromosomal abnormalities. We retrospectively analyzed screening results,prenatal diagnosis results and follow-up results of 4 606 pregnant women, who participated voluntarily in the expanded non-invasive prenatal screening at the department of obstetrics of our hospital between November2018 and November 2019. A total of 40 cases at high risks of fetal chromosomal abnormalities were detected,including 3 trisomy 21, 4 trisomy 13, 21 sex chromosome aneuploidies(SCAs), 6 other autosomal aneuploidies(OAAs) and 6 copy number variations(CNVs). The prenatal diagnosis of 37 pregnant women confirmed 3 trisomy 21, 1 trisomy 13, 10 SCAs and 1 partial duplications of the chromosome 18. Statistical analysis revealed that the risks of fetal chromosomal abnormalities were not significantly different among women at different ages. Furthermore, the risks of fetal chromosomal abnormalities were significantly different between women with abnormal ultrasound soft indexes and those without, whereas the confirmed risks by prenatal diagnosis were insignificantly different between the two groups. Expanded non-invasive prenatal screening is applicable to pregnant women of all ages for screening multiple types of fetal chromosomal abnormalities, and thus has important application values for preventing and controlling birth defects.更多还原