{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:41:15Z","timestamp":1760060475498,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2025,8,23]],"date-time":"2025-08-23T00:00:00Z","timestamp":1755907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background\/Objective: Prenatal cytogenetic testing is essential for pregnant women who are at high risk of having a child with a chromosomal abnormality. While conventional karyotyping detects large aneuploidies and structural rearrangements (&gt;5\u201310 Mb), chromosomal microarray analysis (CMA) identifies smaller copy number variants (CNVs), increasing the diagnostic yield by approximately 5%. CMA is now recommended as the first-line test for evaluating fetal structural anomalies that are detected by ultrasound. Method: From March 2023 to September 2024, we analyzed 344 prenatal samples using conventional karyotyping and SNP-based CMA. Karyotyping was performed via flask culture, and CMA was conducted using the Infinium Global Screening Array Cyto (GSA-Cyto) on the Illumina iScan platform. We interpreted the CNVs using NxClinical v6.0 and curated databases including ClinVar, DECIPHER, OMIM, and ClinGen, among others. Our results aligned with the GRCh37\/hg19 reference genome. Results: Chromosomal abnormalities were identified in 57\/344 cases (16.5%). Of these, 39 cases were numerical chromosomal anomalies, and 18 cases were pathogenic or likely pathogenic CNVs. Notably, 11 CNVs (3.2%) were undetectable by conventional karyotyping, emphasizing the added value of CMA. Conclusions: CMA enhances the prenatal diagnostic accuracy by detecting submicroscopic CNVs that are not visible with conventional methods, supporting the routine use of this analysis in prenatal genetic evaluation.<\/jats:p>","DOI":"10.3390\/diagnostics15172129","type":"journal-article","created":{"date-parts":[[2025,8,25]],"date-time":"2025-08-25T00:09:32Z","timestamp":1756080572000},"page":"2129","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3931-4168","authenticated-orcid":false,"given":"Abdullatif","family":"Bak\u0131r","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Ankara Etlik City Hospital, Ankara 06170, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1563-2292","authenticated-orcid":false,"given":"Mustafa Tar\u0131k","family":"Alay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Etlik City Hospital, Ankara 06170, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-6176-3103","authenticated-orcid":false,"given":"Umut Can","family":"Tekba\u015f","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Etlik City Hospital, Ankara 06170, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3758-0136","authenticated-orcid":false,"given":"Sadun","family":"Sucu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Ankara Etlik City Hospital, Ankara 06170, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5873-7433","authenticated-orcid":false,"given":"\u0130rem","family":"Kalay","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Umraniye Training and Research Hospital, \u0130stanbul 34764, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanife","family":"Saat","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ankara Etlik City Hospital, Ankara 06170, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1097\/GIM.0b013e3182217a3a","article-title":"American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants","volume":"13","author":"Kearney","year":"2011","journal-title":"Genet. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/j.fertnstert.2018.01.005","article-title":"Prenatal diagnosis by chromosomal microarray analysis","volume":"109","author":"Levy","year":"2018","journal-title":"Fertil. Steril."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2175","DOI":"10.1056\/NEJMoa1203382","article-title":"Chromosomal microarray versus karyotyping for prenatal diagnosis","volume":"367","author":"Wapner","year":"2012","journal-title":"N. Engl. J. Med."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1002\/uog.22021","article-title":"Clinical utility of expanded non-invasive prenatal screening and chromosomal microarray analysis in high-risk pregnancy","volume":"57","author":"Zhu","year":"2021","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"901","DOI":"10.1038\/gim.2013.129","article-title":"ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: Revision 2013","volume":"15","author":"South","year":"2013","journal-title":"Genet. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1002\/uog.17548","article-title":"Chromosomal microarray as primary diagnostic genomic tool for pregnancies at increased risk within a population-based combined first-trimester screening program","volume":"51","author":"Vogel","year":"2018","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Zhang, Z., Hu, T., Wang, J., Li, Q., Wang, H., and Liu, S. (2019). Prenatal Diagnostic Value of Chromosomal Microarray in Fetuses with Nuchal Translucency Greater than 2.5\u2009mm. Biomed. Res. Int., 2019.","DOI":"10.1155\/2019\/6504159"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1002\/uog.12372","article-title":"Prenatal diagnosis of chromosomal abnormalities in fetuses with abnormal cardiac ultrasound findings: Evaluation of chromosomal microarray-based analysis","volume":"41","author":"Morales","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1002\/pd.4782","article-title":"Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing","volume":"36","author":"Zhu","year":"2016","journal-title":"Prenat. Diagn."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"835","DOI":"10.1007\/s00439-023-02545-1","article-title":"Prenatal diagnosis in the fetal hyperechogenic kidneys: Assessment using chromosomal microarray analysis and exome sequencing","volume":"142","author":"Huang","year":"2023","journal-title":"Hum. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"4239","DOI":"10.2147\/IJGM.S323899","article-title":"Application of Single Nucleotide Polymorphism Microarray in Prenatal Diagnosis of Fetuses with Central Nervous System Abnormalities","volume":"14","author":"Xie","year":"2021","journal-title":"Int. J. Gen. Med."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/AOG.0000000000000336","article-title":"Association of copy number variants with specific ultrasonographically detected fetal anomalies","volume":"124","author":"Donnelly","year":"2014","journal-title":"Obstet. Gynecol."},{"key":"ref_13","doi-asserted-by":"crossref","unstructured":"American College of Obstetricians and Gynecologists Committee on Genetics (2013). Committee opinion no. 581: The use of chromosomal microarray analysis in prenatal diagnosis. Obstet. Gynecol., 122, 1374\u20131377.","DOI":"10.1097\/00006250-201312000-00042"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1002\/pd.4209","article-title":"The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: A review of the literature","volume":"33","author":"Callaway","year":"2013","journal-title":"Prenat. Diagn."},{"key":"ref_15","first-page":"106","article-title":"Comparison of conventional karyotype analysis and CMA results with ultrasound findings in pregnancies with normal QF-PCR results","volume":"22","author":"Akca","year":"2025","journal-title":"Turk. J. Obstet. Gynecol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/uog.12513","article-title":"Non-invasive prenatal testing for aneuploidy: Current status and future prospects","volume":"42","author":"Benn","year":"2013","journal-title":"Ultrasound Obstet. Gynecol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1038\/gim.2014.3","article-title":"Fetoplacental mosaicism: Potential implications for false-positive and false-negative noninvasive prenatal screening results","volume":"16","author":"Grati","year":"2014","journal-title":"Genet. Med."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"eaan1240","DOI":"10.1126\/scitranslmed.aan1240","article-title":"Rare autosomal trisomies, revealed by maternal plasma DNA sequencing, suggest increased risk of feto-placental disease","volume":"9","author":"Pertile","year":"2017","journal-title":"Sci. Transl. Med."},{"key":"ref_19","doi-asserted-by":"crossref","unstructured":"Liu, X., Liu, S., Wang, H., and Hu, T. (2022). Potentials and challenges of chromosomal microarray analysis in prenatal diagnosis. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.938183"},{"key":"ref_20","doi-asserted-by":"crossref","unstructured":"Hsiao, C.H., Chen, J.S., Shiao, Y.M., Chen, Y.J., Chen, C.H., Chu, W.C., and Wu, Y.C. (2022). Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies. J. Clin. Med., 11.","DOI":"10.3390\/jcm11133624"},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Xue, S., Liu, Y., Wang, L., Zhang, L., Chang, B., Ding, G., and Dai, P. (2024). Clinical application of chromosome microarray analysis and karyotyping in prenatal diagnosis in Northwest China. Front. Genet., 15.","DOI":"10.3389\/fgene.2024.1347942"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e70","DOI":"10.3346\/jkms.2024.39.e70","article-title":"Chromosomal Microarray Analysis in Fetuses with Ultrasonographic Soft Markers: A Meta-Analysis of the Current Evidence","volume":"39","author":"Kim","year":"2024","journal-title":"J. Korean Med. Sci."},{"key":"ref_23","first-page":"e72235","article-title":"Chromosomal Anomalies in Fetuses with Increased Nuchal Translucency: A Vietnamese Retrospective Study","volume":"16","author":"Vo","year":"2024","journal-title":"Cureus"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1111\/cge.12107","article-title":"Chromosomal microarray impacts clinical management","volume":"85","author":"Riggs","year":"2014","journal-title":"Clin. Genet."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/17\/2129\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,9]],"date-time":"2025-10-09T18:34:33Z","timestamp":1760034873000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/15\/17\/2129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,23]]},"references-count":24,"journal-issue":{"issue":"17","published-online":{"date-parts":[[2025,9]]}},"alternative-id":["diagnostics15172129"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics15172129","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2025,8,23]]}}}