{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:04Z","timestamp":1786976824288,"version":"build-2736575974"},"reference-count":24,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T00:00:00Z","timestamp":1715904000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Chromosomal microarrays (CMA) incorporate single nucleotide polymorphisms to enable the detection of regions of homozygosity (ROH). Here, we retrospectively analyzed 6288 prenatal cases who performed CMA to explored the clinical implications of large ROH in prenatal diagnosis. We analyzed cases with ROH larger than 10 megabases and reviewed the ultrasound findings; karyotype results and pregnancy follow\u2010up data. Cases with possible imprinting disorders were assessed by methylation\u2010specific multiplex ligation\u2010dependent probe amplification. In total, we identified 50 cases with large ROH and chromosomes 1 and 2 were the most affected. About 59.18% of the ROH cases had ultrasound abnormalities, with the most common findings being ultrasound soft\u2010marker abnormalities. There were seven fetuses had ROH which covered almost the entire chromosome and four had terminal ROH that involved almost the entire long arm of the chromosomes, which indicated uniparental disomy (UPD), of which 70% showed abnormal ultrasound findings. Ten cases with multiple ROH on different chromosomes indicated the third to fifth degree of consanguinity. In this study, we highlighted the clinical relevance of large ROH related to UPD. The analysis of ROH allowed us to gain further understanding of complex cytogenetic and disease mechanisms in prenatal diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.63712","type":"journal-article","created":{"date-parts":[[2024,5,17]],"date-time":"2024-05-17T04:20:18Z","timestamp":1715919618000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Large regions of homozygosity in prenatal diagnosis"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4911-2495","authenticated-orcid":false,"given":"Di","family":"Ma","sequence":"first","affiliation":[{"name":"Forensic Evidence Laboratory Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mei","family":"Ye","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Clinical Medical Research Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenlong","family":"Hu","sequence":"additional","affiliation":[{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Clinical Medical Research Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Gao","sequence":"additional","affiliation":[{"name":"Forensic Evidence Laboratory Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lijuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Forensic Evidence Laboratory Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yaqin","family":"Song","sequence":"additional","affiliation":[{"name":"Forensic Evidence Laboratory Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Nie","sequence":"additional","affiliation":[{"name":"Forensic Evidence Laboratory Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; the First Affiliated Hospital, Southern University of Science and Technology)  Shenzhen China"},{"name":"Genetic and Prenatal Disease Diagnosis Center Shenzhen People's Hospital (the Second Clinical Medical College, Jinan University; 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