{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:17:24Z","timestamp":1790785044024,"version":"4.1.0"},"reference-count":47,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T00:00:00Z","timestamp":1655942400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from consecutive cases at a multiple tertiary hospital. Each of these high-risk singleton pregnancies had at least one of the following indications: (1) advanced maternal age (AMA; \u226535 years; 546, 52.7%); (2) fetal structural abnormality on ultrasound (197, 19.0%); (3) high-risk first- or second-trimester Down syndrome screen (189, 18.2%), including increased nuchal translucency (\u22653.5 mm; 90, 8.7%); or (4) previous pregnancy, child, or family history (105, 10.1%) affected by chromosomal abnormality or genetic disorder. Both G-banding karyotype analysis and CMA were performed. DNA was extracted directly and examined with oligonucleotide array-based comparative genomic hybridization. Results: Aneuploidies were detected by both G-banding karyotyping and CMA in 42\/1037 (4.05%) cases. Among the 979 cases with normal karyotypes, 110 (10.6%) cases had copy number variants (CNVs) in CMA, including 30 (2.9%) cases with reported pathogenic and likely pathogenic CNVs \u2265 400 kb, 37 (3.6%) with nonreported VOUS, benign, or likely benign CNVs \u2265 400 kb, and 43 (4.1%) with nonreported CNVs &lt; 400 kb. Of the 58 (5.6%) cases with aneuploidy rearrangements, 42 (4.1%) were diagnosed by both G-banding karyotyping and CMA; four inversions, six balanced translocations, and six low mosaic rates were not detected with CMA. Conclusions: CMA is an effective first step for the prenatal diagnosis of high-risk pregnancies with fetal structural anomalies found in ultrasonography or upon positive findings.<\/jats:p>","DOI":"10.3390\/jcm11133624","type":"journal-article","created":{"date-parts":[[2022,6,23]],"date-time":"2022-06-23T21:25:00Z","timestamp":1656019500000},"page":"3624","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies"],"prefix":"10.3390","volume":"11","author":[{"given":"Ching-Hua","family":"Hsiao","sequence":"first","affiliation":[{"name":"Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei 112, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taipei 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jia-Shing","family":"Chen","sequence":"additional","affiliation":[{"name":"School of Medicine for International Students, I-Shou University, Kaohsiung 840, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ming","family":"Shiao","sequence":"additional","affiliation":[{"name":"Department of Bioscience Technology, Chung Yuan Christian University, Taoyuan 320, Taiwan"},{"name":"Union Clinical Laboratory, Taipei 106, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yann-Jang","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taipei 112, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1182-8191","authenticated-orcid":false,"given":"Ching-Hsuan","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Taipei City Hospital, Women and Children Campus, Taipei 100, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9407-0741","authenticated-orcid":false,"given":"Woei-Chyn","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei 112, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1036-445X","authenticated-orcid":false,"given":"Yi-Cheng","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei 112, Taiwan"},{"name":"Department of Obstetrics and Gynecology, Ultrasound Center of Taiwan IVF Group, Ton-Yen General Hospital, Zhubei 302, Taiwan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,6,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/j.ajhg.2010.04.006","article-title":"Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies","volume":"86","author":"Miller","year":"2010","journal-title":"Am. 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