无创产前筛查技术筛查胎儿性染色体变异的效能评价

Effectiveness of non-invasive prenatal screening for the detection of fetal sex chromosome anomalies

目的探讨无创产前筛查(non-invasive prenatal screening,NIPS)技术对胎儿性染色体变异的筛查效能,为临床实践提供理论依据。方法回顾性分析福建省接受NIPS筛查的孕妇20802例,提示性染色体变异165例,收集其侵入性产前诊断结果,比较检测结果的符合情况。结果20802名孕妇NIPS提示性染色体异常165例,接受介入性产前诊断129例,检测出性染色体变异45例,阳性预测值为34.88%(45/129),包括16例47,XYY、10例47,XXY、6例45X/46,XX、5例47,XXX、3例45,X,以及45,X/46,X,i(X)(q10)、45,X/46,X,del(X)(q22)、46,X,del(X)(q22)、46,X,del(X)(p11)和Xp22.31缺失1.2 Mb各1例。结论NIPS对性染色体变异的筛查效能有限,介入性产前诊断中核型分析结合其他诊断技术可以有效避免漏诊。

Objective To evaluate the efficacy of non-invasive prenatal screening(NIPS)for fetal sex chromosome anomalies.Methods A retrospective analysis was carried out for 20802 women undergoing NIPS screening in Fujian Province.For 165 cases suspected for fetal sex chromosomal anomalies,the results of invasive prenatal diagnosis were obtained.Results Among the 165 cases suspected for fetal sex chromosome anomalies,129 have accepted invasive prenatal diagnosis,and 45 were confirmed,which yielded a positive predictive value of 34.88%.These included 16 cases of 47,XYY,10 cases of 47,XXY,6 cases of 45,X/46,XX,5 cases of 47,XXX,3 cases of 45,X,1 case of 45,X/46,X,i(X)(q10),1 case of 45,X/46,X,del(X)(q22),1 case of 46,X,del(X)(q22),1 case of 46,X,del(X)(p11)and 1 case of Xp22.311.2 Mb deletion.Conclusion NIPS has limited value for detecting fetal sex chromosome anomalies.Karyotyping analysis combined with other diagnostic techniques can offer effective prenatal diagnosis for suspected cases.