{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,22]],"date-time":"2026-04-22T10:12:28Z","timestamp":1776852748443,"version":"3.51.2"},"reference-count":72,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,3,30]],"date-time":"2012-03-30T00:00:00Z","timestamp":1333065600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2012,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To evaluate the results of prenatal chromosomal microarray analysis (CMA) on &gt;1000 fetal samples referred for testing at our institution and to compare these data to published reports.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>High resolution CMA was offered to women undergoing amniocentesis or chorionic villus sampling. Parental samples were obtained concurrently to exclude maternal cell contamination and assist interpretation of copy number variations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Clinically significant copy number variations were observed in 85\/1115 cases (7.6%) overall, and in 45\/1075 cases (4.2 %) if 40 abnormal cases with known chromosome abnormalities or familial genomic imbalances were excluded. Eighteen of the 1115 cases had variants of unclear clinical significance (1.6%). Indications yielding the most clinically significant findings were abnormal karyotype\/fluorescence <jats:italic>in situ<\/jats:italic> hybridization (26\/61, 42.6%), family history of chromosomal abnormality (13\/137, 9.5%), abnormal ultrasound (38\/410, 9.3%), abnormal serum screening (2\/37, 5.4%) and advanced maternal age (5\/394, 1.3%). Of 1075 cases having no previously known cytogenetic abnormality or family history, 18 (1.7%) had clinically significant genomic changes undetectable by conventional prenatal chromosome analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Current experience confirms that the detection rate of CMA for prenatal chromosomal abnormalities surpasses that of conventional karyotype analysis and continues to improve with higher resolution arrays, while maintaining a low frequency of results of unclear clinical significance. \u00a9 2012 John Wiley &amp; Sons, Ltd.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.3861","type":"journal-article","created":{"date-parts":[[2012,4,3]],"date-time":"2012-04-03T10:37:54Z","timestamp":1333449474000},"page":"351-361","source":"Crossref","is-referenced-by-count":110,"title":["Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with &gt;1000 cases and review of the 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