摘要
目的探讨无创产前检测(non-invasive prenatal testing,NIPT)对于筛查常见非整倍体以外的其他染色体异常的价值。方法分析宁波地区11429例单胎孕妇的NIPT筛查结果,对提示为21、18和13非整倍体之外的其他染色体异常高风险且知情同意的106例孕妇进行羊水检查。回访所有孕妇的妊娠结局以及胎儿出生后的情况。结果NIPT在11429例样本中共检出性染色体非整倍体高风险66例,通过产前诊断确诊18例、疑似阳性4例,阳性预测值为33.3%(22/66),继续妊娠率为45.5%,且出生后表现均暂无异常;检出拷贝数变异47例,通过产前诊断确诊19例,疑似阳性3例,阳性预测值为46.8%(22/47)。22例孕妇均选择终止妊娠;检出罕见常染色体非整倍体31例,通过产前诊断确诊2例嵌合型三体,疑似阳性1例,阳性预测值为9.7%,3例孕妇均选择终止妊娠。结论NIPT对于检测常见非整倍体以外的拷贝数变异和性染色体非整倍体具有一定的价值,能够有效减少缺陷儿的出生。鉴于其阳性预测值总体不高,筛查阳性的孕妇仍需合理的遗传咨询和产前诊断,以避免不必要的引产。
Objective To assess the value of non-invasive prenatal testing(NIPT)for the identification of sex chromosome aneuploidies(SCAs),copy number variants(CNVs)and rare autosomal trisomies(RATs).Methods A total of 11429 women with singleton pregnancy in Ningbo area were screened by NIPT.106 women were subjected to invasive prenatal diagnosis due to high risk of chromosomal abnormalities other than 21,18 and 13 aneuploidies.All cases were followed up for pregnancy outcome and postnatal status.Results Sixty six women were signaled by NIPT for fetal SCAs,among whom 54 were willing to undergo prenatal diagnosis.Eighteen cases of fetal SCAs were verified as true positives and 4 were suspected positives,which yielded a positive predictive value(PPV)of 33.3%.Half of the women decided to continued their pregnancy.Forty women were signaled by NIPT for fetal CNVs,among which 32 underwent prenatal diagnosis.19 cases of fetal CNVs were verified as true positives and 3 cases were suspected positives,which yielded a PPV of 46.8%.All women with pathological or possibly pathological CNVs decided to terminate their pregnancies.Thirty one women were signaled for with fetal RATs.Two fetuses were confirmed to harbor mosaicism trisomies by prenatal diagnosis,and 1 case was suspected to be positive,which yielded a PPV of 9.7%.All of the three women have decided to terminate their pregnancy.Conclusion In addition to aneuploidies of target chromosomes,NIPT also has important value for the detection of SCAs and CNVs.The results can help to further reduce birth defects.Nevertheless,in view of its low PPV,pregnant women with positive result still need appropriate genetic counseling and prenatal diagnosis to avoid unnecessary induced labor.
作者
张玉鑫
闫露露
刘颖文
李海波
Zhang Yuxin;Yan Lulu;Liu Yingwen;Li Haibo(Laboratory for Comprehensive Prevention and Treatment of Birth Defects,Ningbo Women&Children’s Hospital,Ningbo,Zhejiang 315012,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2020年第6期621-626,共6页
Chinese Journal of Medical Genetics
基金
宁波市医学品牌学科(PPXK2018-06)。
关键词
无创产前检测
性染色体非整倍体
拷贝数变异
产前诊断
Noninvasive prenatal testing
Sex chromosome aneuploidy
Copy number variation
Prenatal diagnosis
