{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T01:32:27Z","timestamp":1760059947064,"version":"build-2065373602"},"reference-count":98,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T00:00:00Z","timestamp":1753315200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Medicine and Pharmacy of Craiova, Romania"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background\/Objectives: Miscarriage is an increasingly common event worldwide arising from various factors, and identifying its etiology is important for planning and managing any future pregnancies. It is estimated that about half of early pregnancy loss cases are caused by genetic abnormalities, while a significantly lower rate is found in late pregnancy loss. Multiplex ligation-dependent probe amplification (MLPA) can detect small changes within a gene with precise breakpoints at the level of a single exon. The aim of our study was to identify the rate of copy number variations (CNVs) in spontaneous pregnancy loss samples after having previously tested them via quantitative fluorescence PCR (QF-PCR), with no abnormal findings. Methods: DNA was extracted from product-of-conception tissue samples, followed by the use of an MLPA kit for the detection of 31 microdeletion\/microduplication syndromes (SALSA\u00ae MLPA\u00ae Probemix P245 Microdeletion Syndromes-1A, MRC-Holland, Amsterdam, The Netherlands). Results: A total of 11 (13.1%) out of the 84 successfully tested samples showed CNVs. Duplications accounted for 9.5% of the analyzed samples (eight cases), while heterozygous or hemizygous deletions were present in three cases (3.6%). Among all the detected CNVs, only three were certainly pathogenic (3.6%), with two deletions associated with DiGeorge-2 syndrome and Rett syndrome, respectively, and a 2q23.1 microduplication syndrome, all detected in early pregnancy loss samples. For the remaining cases, additional genetic tests (e.g., aCGH\/SNP microarray) are required to establish CNV size and gene content and therefore their pathogenicity. Conclusions: MLPA assays seem to have limited value in detecting supplementary chromosomal abnormalities in miscarriages.<\/jats:p>","DOI":"10.3390\/genes16080867","type":"journal-article","created":{"date-parts":[[2025,7,24]],"date-time":"2025-07-24T11:58:53Z","timestamp":1753358333000},"page":"867","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Role of MLPA in Detecting Syndromic Submicroscopic Copy Number Variations in Normal QF-PCR Miscarriage Specimens"],"prefix":"10.3390","volume":"16","author":[{"given":"Gabriela","family":"Popescu-Hobeanu","sequence":"first","affiliation":[{"name":"Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"},{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5847-6480","authenticated-orcid":false,"given":"Mihai-Gabriel","family":"Cucu","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandru","family":"Calot\u0103-Dobrescu","sequence":"additional","affiliation":[{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lumini\u021ba","family":"Dragot\u0103","sequence":"additional","affiliation":[{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anca-Lelia","family":"Riza","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ioana","family":"Strea\u021b\u0103","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2686-3878","authenticated-orcid":false,"given":"R\u0103zvan Mihail","family":"Ple\u0219ea","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ciprian Lauren\u021biu","family":"P\u0103tru","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"},{"name":"Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina Maria","family":"Com\u0103nescu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania"},{"name":"Department of Anatomy, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u0218tefania","family":"Tudorache","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"},{"name":"Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7823-3387","authenticated-orcid":false,"given":"Dominic","family":"Iliescu","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"},{"name":"Department of Obstetrics and Gynecology, Emergency Clinical County Hospital, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florin","family":"Burada","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania"},{"name":"Regional Centre of Medical Genetics Dolj, Emergency Clinical County Hospital Craiova, 200642 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1016\/S0140-6736(21)00682-6","article-title":"Miscarriage matters: The epidemiological, physical, psychological, and economic costs of early pregnancy loss","volume":"397","author":"Quenby","year":"2021","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Practice Committee of the American Society for Reproductive Medicine (2012). 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