{
    "abstract": "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.",
    "authors": [
        {
            "affiliation": "International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China. Electronic address: wyalin@sjtu.edu.cn.",
            "firstname": "Yanlin",
            "initials": "Y",
            "lastname": "Wang"
        },
        {
            "affiliation": "Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.",
            "firstname": "Xiang",
            "initials": "X",
            "lastname": "Qiu"
        },
        {
            "affiliation": "Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.",
            "firstname": "Songchang",
            "initials": "S",
            "lastname": "Chen"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Dong",
            "initials": "D",
            "lastname": "Pan"
        },
        {
            "affiliation": "International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.",
            "firstname": "Renyi",
            "initials": "R",
            "lastname": "Hua"
        },
        {
            "affiliation": "International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.",
            "firstname": "Shuyuan",
            "initials": "S",
            "lastname": "Li"
        },
        {
            "affiliation": "International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China.",
            "firstname": "Yiyao",
            "initials": "Y",
            "lastname": "Chen"
        },
        {
            "affiliation": "International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.",
            "firstname": "Nina",
            "initials": "N",
            "lastname": "Pan"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Xiaoqiang",
            "initials": "X",
            "lastname": "Cai"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Jianli",
            "initials": "J",
            "lastname": "Li"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Xin",
            "initials": "X",
            "lastname": "Zhao"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Jing",
            "initials": "J",
            "lastname": "Wang"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Ruilin",
            "initials": "R",
            "lastname": "Jing"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China; School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, China.",
            "firstname": "Guangxin",
            "initials": "G",
            "lastname": "Xiang"
        },
        {
            "affiliation": "Beijing BioBiggen Technology Co., Ltd., Beijing, China.",
            "firstname": "Zhiwei",
            "initials": "Z",
            "lastname": "Zhang"
        },
        {
            "affiliation": "Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.",
            "firstname": "He-Feng",
            "initials": "HF",
            "lastname": "Huang"
        },
        {
            "affiliation": "Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China.",
            "firstname": "Chenming",
            "initials": "C",
            "lastname": "Xu"
        },
        {
            "affiliation": "Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China; Beijing BioBiggen Technology Co., Ltd., Beijing, China. Electronic address: jinglanzhang@fudan.edu.cn.",
            "firstname": "Jinglan",
            "initials": "J",
            "lastname": "Zhang"
        }
    ],
    "conclusions": null,
    "copyrights": "Copyright \u00a9 2023 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.",
    "doi": "10.1016/j.jmoldx.2023.06.003",
    "journal": "The Journal of molecular diagnostics : JMD",
    "keywords": [],
    "methods": null,
    "publication_date": "2023-08-21",
    "pubmed_id": "37599029",
    "results": null,
    "title": "Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms.",
    "xml": "<Element 'PubmedArticle' at 0x788506c67fb0>"
}