[对于选择无创产前检测的孕妇，有必要选择无创产前基因检测升级版吗？一项50例的研究]

[Is it necessary to choose NIPT-plus for pregnant women who opt for non-invasive prenatal testing? A study of 50 cases].

作者信息

Dai Peng, Zhao Ganye, Gao Shanshan, Chen Shaoning, Zhang Fengmin, Guo Wanying, Kong Xiangdong

机构信息

Genetic and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450046, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):895-899. doi: 10.3760/cma.j.cn511374-20200619-00456.

DOI:10.3760/cma.j.cn511374-20200619-00456

PMID:34487540

Abstract

OBJECTIVE

To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women.

METHODS

The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared.

RESULTS

Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively.

CONCLUSION

It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.

摘要

目的

探讨孕妇产前筛查时选择无创产前基因检测升级版（NIPT-plus）是否必要。

方法

比较50例孕妇的无创产前基因检测（NIPT）和NIPT-plus测序数据结果、胎儿DNA浓度、产前诊断及妊娠结局。

结果

与NIPT相比，NIPT-plus获得了相似的胎儿DNA浓度，测序数据增加了4.4倍。NIPT能够检测出NIPT-plus提示的4例21-三体、2例18-三体和9例性染色体非整倍体（SCA），但漏检了1例18-三体，且未能检测出罕见染色体非整倍体（RCA）和微缺失/微重复综合征（MMS）。NIPT-plus对21-三体、18-三体、SCA、MMS和RCA的阳性预测值（PPV）分别为100%、100%、44.4%、30.4%和0%。而NIPT对21-三体、18-三体和SCA的PPV分别为100%、100%和44.4%。