Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms

doi:10.1016/j.jmoldx.2023.06.003

科研成果详情

题名	Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms
作者	Wang, Yanlin 1,2; Qiu, Xiang 3; Chen, Songchang 3; Pan, Dong 4; Hua, Renyi 1; Li, Shuyuan 1,2; Chen, Yiyao 1,2; Pan, Nina 1; Cai, Xiaoqiang 4; Li, Jianli 4; Zhao, Xin 4; Wang, Jing 4; Jing, Ruilin 4; Xiang, Guangxin4,5; Zhang, Zhiwei 4; Huang, He-Feng 3; Xu, Chenming 3; Zhang, Jinglan 3,4
发表日期	2023-09
发表期刊	The Journal of molecular diagnostics : JMD 影响因子和分区
语种	英语
原始文献类型	Journal Article ; Research Support, Non-U.S. Gov't
其他关键词	CELL-FREE DNA ; IN-VITRO FERTILIZATION ; MULTIPLE PREGNANCY ; SPONTANEOUS REDUCTION ; VANISHING TWIN ; ANEUPLOIDY ; CHORIONICITY ; DIAGNOSIS
摘要	Twin pregnancy constitutes significant risks for maternal and fetal health, which is usually detected by ultrasound examination at early gestation. However, the imaging-based approach may not accurately identify all twins confounded by practical or clinical variables. The analysis of fetal cell-free DNA in noninvasive prenatal screening assays can completement the ultrasound method for twin detection, which differentiates fraternal or identical twins based on their distinct genotypes. Here, a new noninvasive prenatal screening employing high-coverage next-generation sequencing for targeted nucleotide polymorphisms was developed for detection of zygosity and determination of fetal fraction in twin pregnancies. This method utilizes a binary analysis of both the number and allelic fraction of fetus-specific single-nucleotide polymorphisms to infer the zygosity. In 323 samples collected from 215 singleton, 90 dizygotic, and 18 monozygotic twin pregnancies, all 90 dizygotic twins were correctly detected, with a 100% sensitivity and a 100% specificity. In addition, this method can detect complex pregnancies, such as egg donors, contamination, and twins with complete hydatidiform mole. The fetus-specific fetal fraction change was monitored in nine dizygotic twin pregnancies, which demonstrated highly variable dynamics of fetal cell-free DNA turnover up to 7 weeks after twin reduction. Overall, this study provides a new noninvasive prenatal screening strategy for the accurate identification of twin zygosity and quantification of fetal fraction, which has important clinical implications for the management of twin pregnancies.
资助项目	National Key Research and Development Program of China [2020YFA0804000]; National Natural Science Foundation of China [82071661, 82271898, 81971401]; Beijing BioBiggen Technology Co, Ltd,; Heristar LLC
出版者	ELSEVIER SCIENCE INC
ISSN	1525-1578
EISSN	1943-7811
卷号	25 期号:9 页码:682-691
DOI	10.1016/j.jmoldx.2023.06.003
页数	10
WOS类目	Pathology
WOS研究方向	Pathology
WOS记录号	WOS:001064703400001
收录类别	PUBMED ; SCIE ; SCOPUS
在线发表日期	2023-08
URL	查看原文
PubMed ID	37599029
SCOPUSEID	2-s2.0-85168376082
通讯作者地址	[Wang, Yanlin]null
Scopus学科分类	Pathology and Forensic Medicine;Molecular Medicine
引用统计
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/182461
专题	检验医学院（生命科学学院、生物学实验教学中心）
通讯作者	Wang, Yanlin
作者单位	1.International Peace Maternity and Child Health Hospital,School of Medicine,Shanghai Jiao Tong University,Shanghai,China; 2.Shanghai Key Laboratory of Embryo Original Diseases,Shanghai,China; 3.Obstetrics and Gynecology Hospital,Institute of Reproduction and Development,Fudan University,Shanghai,China; 4.Beijing BioBiggen Technology Co.,Ltd.,Beijing,China; 5.School of Laboratory Medicine and Life Sciences,Wenzhou Medical University,Wenzhou,China
推荐引用方式 GB/T 7714	Wang, Yanlin,Qiu, Xiang,Chen, Songchang,et al. Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms[J]. The Journal of molecular diagnostics : JMD,2023,25(9):682-691.
APA	Wang, Yanlin., Qiu, Xiang., Chen, Songchang., Pan, Dong., Hua, Renyi., ... & Zhang, Jinglan. (2023). Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms. The Journal of molecular diagnostics : JMD, 25(9), 682-691.
MLA	Wang, Yanlin,et al."Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms".The Journal of molecular diagnostics : JMD 25.9(2023):682-691.