{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:40:11Z","timestamp":1756363211845,"version":"3.44.0"},"reference-count":17,"publisher":"Georg Thieme Verlag KG","issue":"09","funder":[{"name":"Open Research Project from Henan Key Laboratory of Fertility Protection and Aristogenesis","award":["SYLBHHYS2022-05"],"award-info":[{"award-number":["SYLBHHYS2022-05"]}]},{"name":"Medical Education Research Project of Henan Province","award":["Wjlx2022050"],"award-info":[{"award-number":["Wjlx2022050"]}]},{"name":"Science and Technology Research Program of Henan Province","award":["242102311087"],"award-info":[{"award-number":["242102311087"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Perinatol"],"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study aims to assess the feasibility of detecting and diagnosing Duchenne muscular dystrophy (DMD) during prenatal screening for chromosome abnormalities using cell-free fetal DNA extracted from peripheral blood samples of pregnant women.<\/jats:p><jats:p>Two pregnant women identified as high risk through noninvasive prenatal testing (NIPT) underwent amniocentesis to obtain fetal cells. Subsequent fetal chromosomal karyotyping was conducted, and genomic DNA from fetal cells was extracted for copy number variation sequencing (CNV-Seq) analysis, complemented by multiplex ligation-dependent probe amplification (MLPA) to detect deletions or duplications within the DMD gene.<\/jats:p><jats:p>NIPT results for the two samples indicated potential abnormalities involving chromosomes 21 and 18. However, karyotype analysis of the fetuses revealed no abnormalities. CNV-Seq identified deletions of 0.28 and 0.18\u2009Mb within chromosome Xp21.1, encompassing the DMD gene, in each fetus. In family 1, MLPA results indicated a maternal heterozygous deletion spanning exons 12 to 41 in the DMD gene, while the fetus exhibited deletions in exons 12 to 41. In family 2, MLPA results confirmed normal DMD gene status in the pregnant woman's peripheral blood genomic DNA but revealed a fetal deletion spanning exons 48 to 52. Both fetuses were diagnosed with DMD and subsequently underwent termination.<\/jats:p><jats:p>Abnormalities identified through NIPT necessitate further invasive prenatal diagnostic procedures. For cases involving chromosomal microdeletions or microduplications, a combination of karyotyping and CNV-Seq testing is essential for comprehensive diagnosis. NIPT followed by CNV-Seq may offer insights into large exon deletions within the DMD gene in specific instances.<\/jats:p>","DOI":"10.1055\/a-2459-8924","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T20:12:33Z","timestamp":1730751153000},"page":"1135-1140","source":"Crossref","is-referenced-by-count":0,"title":["Unexpected Findings of Duchenne Muscular Dystrophy in Prenatal Screening of Chromosome Abnormality Based on Cell-Free Fetal DNA"],"prefix":"10.1055","volume":"42","author":[{"given":"Ganye","family":"Zhao","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Panlai","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingxin","family":"Gu","sequence":"additional","affiliation":[{"name":"Department of Reproductive Medicine and Genetics, Pingdingshan Maternal and Child Health Hospital, Pingdingshan, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shaozhe","family":"Yang","sequence":"additional","affiliation":[{"name":"Henan Key Laboratory of Fertility Protection and Aristogenesis, Luohe Central Hospital, Luohe, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiangdong","family":"Kong","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, The Genetics and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2024,11,25]]},"reference":[{"issue":"02","key":"ref1","doi-asserted-by":"crossref","first-page":"100336","DOI":"10.1016\/j.gim.2022.11.004","article-title":"Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)","volume":"25","author":"J S Dungan","year":"2023","journal-title":"Genet Med"},{"issue":"12","key":"ref2","doi-asserted-by":"crossref","first-page":"3350","DOI":"10.3390\/jcm11123350","article-title":"Validity and utility of non-invasive prenatal testing for copy number variations and microdeletions: a systematic review","volume":"11","author":"L Zaninovi\u0107","year":"2022","journal-title":"J Clin Med"},{"issue":"09","key":"ref3","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1002\/pd.6406","article-title":"Patients' perspectives on prenatal screening results that suggest maternal cancer: a qualitative analysis","volume":"43","author":"A Turriff","year":"2023","journal-title":"Prenat Diagn"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"955694","DOI":"10.3389\/fgene.2022.955694","article-title":"Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies","volume":"13","author":"T Hu","year":"2022","journal-title":"Front Genet"},{"issue":"12","key":"ref5","doi-asserted-by":"crossref","first-page":"2774","DOI":"10.1038\/s41436-019-0564-4","article-title":"Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening","volume":"21","author":"N Brison","year":"2019","journal-title":"Genet 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families based on relative mutation dosage approach","volume":"14","author":"G Zhao","year":"2021","journal-title":"BMC Med Genomics"},{"issue":"11","key":"ref13","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/gim.2014.207","article-title":"Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma","volume":"17","author":"Y Xu","year":"2015","journal-title":"Genet Med"},{"issue":"01","key":"ref14","doi-asserted-by":"crossref","first-page":"8678","DOI":"10.1038\/s41598-018-26941-0","article-title":"Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis","volume":"8","author":"S S Jang","year":"2018","journal-title":"Sci Rep"},{"issue":"01","key":"ref15","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1186\/s12920-023-01746-x","article-title":"Prenatal diagnosis of 1408 foetuses at risk of DMD\/BMD by MLPA and Sanger sequencing combined with STR linkage analysis","volume":"16","author":"C Hua","year":"2023","journal-title":"BMC Med Genomics"},{"issue":"10","key":"ref16","doi-asserted-by":"crossref","first-page":"1187","DOI":"10.1002\/pd.6032","article-title":"Non-invasive prenatal testing 10 years on","volume":"41","author":"L S Chitty","year":"2021","journal-title":"Prenat Diagn"},{"issue":"04","key":"ref17","doi-asserted-by":"crossref","first-page":"448","DOI":"10.1002\/pd.6143","article-title":"The cell-free DNA virome of 108,349 Dutch pregnant women","volume":"43","author":"J Linthorst","year":"2023","journal-title":"Prenat Diagn"}],"container-title":["American Journal of 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