摘要
目的 探讨无创产前筛查(non-invasive prenatal testing, NIPT)技术在胎儿性染色体非整倍体(sex chromosome aneuploidy, SCA)的临床应用价值。方法 选择2018年1月至2020年8月在南宁市第二人民医院行NIPT的22 998例单胎妊娠孕妇为研究对象,NIPT结果提示为SCA的孕妇建议其进行介入性产前诊断行胎儿染色体核型分析或拷贝数变异测序(copy number variation sequencing, CNV-Seq)检测,并随访妊娠结局。结果 22 998例孕妇中,NIPT提示SCA有86例(0.37%),其中49例(56.98%)性染色体数目减少,37例(43.02%)性染色体数目增多。62例行介入性产前诊断,有30例阳性,总体阳性预测值(positive predictive value, PPV)为34.88%,包括性染色体数目减少7例,PPV为14.29%,胎儿核型为45,X、45,X/46,XX嵌合、46,X,del(X)(p11.2),相应PPV分别为6.12%、6.12%、2.04%,其中意外发现有2例常染色体微缺失微重复;性染色体数目增多有23例,PPV为62.16%,胎儿核型分别为47,XXY、47,XXY/48,XXXY嵌合,对应PPV分别为59.46%、2.70%。随访有40例孕妇选择继续妊娠,21例引产,部分失访。结论 NIPT对SCA的总PPV不高,NIPT提示SCA时,仍需进一步行介入性产前诊断,并结合胎儿超声影像等综合判断以及加强随访。
Objective To investigate the clinical value of non-invasive prenatal testing(NIPT)technology in sex chromosome aneuploidy(SCA).MethodsA total of 22998 singleton pregnant women who underwent NIPT screening in Nanning Second Peoples Hospital from January 2018 to August 2020 were selected as the study subjects,and pregnant women with NIPT screening results indicating SCA were recommended to undergo interventional prenatal diagnosis,fetal karyotyping or copy number variation sequencing(CNV-Seq),and pregnancy outcomes were followed up.ResultsAmong 22998 pregnant women who underwent NIPT,86(0.37%)had SCA,49(56.98%)had reduced sex chromosome number,and 37(43.02%)had increased sex chromosome number.Of the 62 cases of interventional prenatal diagnosis,30 cases were positive,and the overall positive predictive value(PPV)was 34.88%,including the number of sex chromosomes decreased in 7 cases,PPV was 14.29%,fetal karyotype was 45,X,45,X/46,XX chimera,46,X,del(X)(pl1.2),the corresponding PPV was 6.12%,6.12%and 2.04%,respectively,among which 2 cases of autosomal micro-deletion and micro-repetition were accidentally found;There were 23 cases with an increase in the number of sex chromosomes,PPV was 62.16%,and the karyotypes of the fetus were 47,XXY,47,XXY/48,XXXY chimeric,corresponding to PPV of 59.46%and 2.70%,respectively.At fllow-up,40 pregnant women chose to continue the pregnancy,21 cases induced labor,and some were lost to follow-up.ConclusionThe total PPV of SCA is not high by NIPT screening technology,and when NIPT suggests SCA,further interventional prenatal diagnosis is required,combined with comprehensive judgment such as fetal ultrasound imaging and strengthening follow-up.
作者
周元圆
翟秀璋
卢庆
赖春慧
陈丹云
刘孙荣
Zhou Yuanyuan;Zhai Xiuzhang;Lu Qing;Lai Chunhui;Chen Danyun;Liu Sunrong(Department of Clinical Laboratory,Clinical Laboratory of the Second People's Hospital of Nanning;Department of Obstetrics,Nanning Second Peoples Hospital,Nanning Guangxi 530031,P.R.China)
出处
《中国计划生育和妇产科》
2023年第2期96-98,107,共4页
Chinese Journal of Family Planning & Gynecotokology
