{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,28]],"date-time":"2025-11-28T17:21:15Z","timestamp":1764350475666,"version":"3.40.5"},"reference-count":20,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,11,5]],"date-time":"2019-11-05T00:00:00Z","timestamp":1572912000000},"content-version":"vor","delay-in-days":4,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ultrasound in Obstet &amp;amp; Gyne"],"published-print":{"date-parts":[[2019,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Chromosomal microarray analysis (CMA) is the modality of choice for prenatal diagnosis in pregnancy with fetal malformation, as it has a high diagnostic yield for microdeletion\/duplication syndromes. The aim of this study was to demonstrate the additional utility of single\u2010nucleotide polymorphism (SNP)\u2010based CMA in diagnosing monogenic diseases, imprinting disorders and uniparental disomy (UPD).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>CMA was performed using Affymetrix CytoScan array, for all indications in 6995 pregnancies, at a tertiary referral hospital from November 2013 to June 2018. We describe four cases that had a CMA result that provided a more comprehensive understanding of the complex genetic mechanisms underlying the clinical presentation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In the first fetus, CMA was performed due to intrauterine growth restriction and revealed a 75\u2009kbp maternally inherited microdeletion encompassing the Bloom syndrome gene (<jats:italic>BLM<\/jats:italic>). A diagnosis of Bloom syndrome was made upon identifying a paternally inherited common Ashkenazi founder mutation. In the second case, CMA was performed due to severely abnormal maternal serum analytes and revealed a deletion in 14q32.2q32.31 on the maternally inherited copy, leading to a diagnosis of Kagami\u2013Ogata syndrome, which is an imprinting disorder. In the third case, amniocentesis was performed because of late\u2010onset fetal macrosomia and mild polyhydramnios. CMA detected a deletion encompassing the locus of Prader\u2013Willi\/Angelman syndrome. In the fourth case, amniocentesis was performed due to maternal cytomegalovirus seroconversion. Maternal UPD of the entire long arm of chromosome 11 was detected.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Prenatal CMA, based on oligo and SNP platforms, increases the diagnostic yield and enables a wider spectrum of disorders to be detected through the identification of complex genetic etiologies beyond only copy number variants. Copyright \u00a9 2019 ISUOG. Published by John Wiley &amp; Sons Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/uog.20230","type":"journal-article","created":{"date-parts":[[2019,1,29]],"date-time":"2019-01-29T06:56:05Z","timestamp":1548744965000},"page":"655-660","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Single\u2010nucleotide polymorphism\u2010based chromosomal microarray analysis provides clues and insights into disease mechanisms"],"prefix":"10.1002","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-3599","authenticated-orcid":false,"given":"H.","family":"Daum","sequence":"first","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Meiner","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Hacohen","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Zvi","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Eilat","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Drai\u2010Hasid","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1412-5862","authenticated-orcid":false,"given":"S.","family":"Yagel","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynecology Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Zenvirt","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Frumkin","sequence":"additional","affiliation":[{"name":"Department of Genetics and Metabolic Diseases Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,11,5]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"2017 SC Robson LS Chitty S Morris T Verhoef G Ambler DG Wellesley R Graham C Leader J Fisher JA Crolla Evaluation of Array Comparative genomic Hybridisation in prenatal diagnosis of fetal anomalies: a multicentre cohort study with cost analysis and assessment of patient health professional and commissioner preferences for array comparative genomic hybridisation"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejogrb.2017.03.007"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.03.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-0528.2012.03279.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.08.007"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0013996"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5201"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.fertnstert.2018.01.005"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1089\/gte.1998.2.293"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.82"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.113"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cll.2011.08.003"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33939"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr-2012-007777"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2007.56"},{"key":"e_1_2_7_17_1","first-page":"2039","article-title":"Is there a higher incidence of maternal uniparental disomy 14 [upd (14) mat]? 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