摘要
目的比较外周血胎儿游离DNA无创产前检测（non—invasive prenataltesting，NIPT）对于不同指征的孕妇的临床检测效能。方法选择接受NIPT检测的孕妇10275例，对胎儿的染色体非整倍体进行全基因组低覆盖检测，对高风险者进一步进行产前诊断，对所有孕妇的妊娠结局进行随访。结果NIPT检测提示72例胎儿为常染色体非整倍体高风险（21三体57例、18三体14例、13三体1例）。经羊水染色体检查，确诊21三体56例，18三体13例，13三体1例。NIPT对于21三体和18三体的阳性预测值分别为98．25％和91．67％，对于高龄、血清学筛查高风险、临界风险以及自愿要求进行检查者的阳性预测值分别为100％、95％、900A和50％。随访发现1例血清学筛查提示21三体为高风险者为假阴性。在确诊的56例21三体中，血清学筛查高风险占55％，高龄占29％，临界风险者占14％，自愿要求者占2％。结论NIPT对21三体、18三体和13三体的筛查效果较为理想，可以有效监管高龄孕妇人群，对血清学筛查高风险和临界风险人群取得了很好的二级筛查效果，能够最大限度地降低出生缺陷的发生率。
Objective To assess the performance of non-invasive prenatal testing （NIPT） based on massive parallel sequencing. Methods A total of 10 275 maternal blood samples were collected. Fetal chromosomal aneuploides were subjected to low coverage whole genome sequencing. Patients with high risks received further prenatal diagnosis. The outcome of all patients were followed up. Results High- throughput sequencing detected 72 pregnancies with fetal autosomal chromosomal aneuploidy, including 57 cases of trisomy 21, 14 cases of trisomy 18, and 1 case of trisomy 13. The positive predictive value for trisomies 21 and 18 were 98.25% and 91.67%, respectively. Comparing its performance in intermediate or high risk pregnancies, advanced maternal age pregnancies and volunteering to test pregnancies, the positive predictive value were 100%, 95%, 90% and 50%, respectively. The follow up result was only 1 case of 21 trisomy false negative with high risk. For the 56 cases of trisomy 21, the high risk group accounted for 55%, advanced maternal age accounted for 29%, the intermediate risk referred to 14%, the volunteering to test group accounted for 2%o. Conclusion The performance of NIPT for trisomies 21, 18 and 13 was satisfactory. The method can be used for women with advanced gestational age. NIPT has offered an ideal secondary screening method for those with an intermediate or high risk, and can reduce the rate of birth defects.
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第1期51-55,共5页
Chinese Journal of Medical Genetics
基金
江苏省重点研究计划（社会发展）（BE2017650）
常州市科技支撑计划（社会发展）（CE20175021）
江苏省妇幼健康科研项目（F201754）
关键词
无创产前检查
唐氏综合征筛查
风险
高龄
高通量测序
Non-invasive prenatal testing
Down syndrome screening
Risk
Advancedmaternal age
High-throughput sequencing
