Document Detail

Application of chromosomal microarray in the evaluation of abnormal prenatal findings.
MedLine Citation:
PMID:  23020214     Owner:  NLM     Status:  Publisher    
We performed karyotype and aCGH analyses on 177 prenatal samples, including 162 (92%) samples from fetuses with sonographic anomalies. Overall 12 fetuses (6.8%) had abnormal karyotype and 42 (23.7%) fetuses had abnormal microarray results: 20 (11.3%) with pathogenic copy number variations (CNVs), 16 with CNVs of uncertain clinical significance, four with CNVs establishing carrier status for recessive, X-linked, and susceptibility to late onset dominant disease, and two CNVs with pseudomosaicism due to in vitro cultural artifacts. For 23 pregnancies (13%), aCGH contributed important new information. Our results highlight the interpretation challenges associated with CNVs of unclear significance, incidental findings, as well as technical aspects. Array CGH analysis significantly improved the detection of genomic imbalances in prenatal diagnosis of pregnancies with structural birth defects.
Svetlana A Yatsenko; Shareece Davis; Nancy Hendrix; Urvashi Surti; Stephen Emery; Timothy Canavan; Paul Speer; Lyndon Hill; Michele Clemens; Aleksandar Rajkovic
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-9-28
Journal Detail:
Title:  Clinical genetics     Volume:  -     ISSN:  1399-0004     ISO Abbreviation:  Clin. Genet.     Publication Date:  2012 Sep 
Date Detail:
Created Date:  2012-10-1     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0253664     Medline TA:  Clin Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 John Wiley & Sons A/S.
Department of Obstetrics, Gynecology and Reproductive Sciences, Magee-Womens Research Institute; Department of Pathology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
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