Document Detail

The clinical utility of microarray technologies applied to prenatal cytogenetics in the presence of a normal conventional karyotype: a review of the literature.
MedLine Citation:
PMID:  23983223     Owner:  NLM     Status:  MEDLINE    
The clinical utility of microarray technologies when used in the context of prenatal diagnosis lies in the technology's ability to detect submicroscopic copy number changes that are associated with clinically significant outcomes. We have carried out a systematic review of the literature to calculate the utility of prenatal microarrays in the presence of a normal conventional karyotype. Amongst 12,362 cases in studies that recruited cases from all prenatal ascertainment groups, 295/12,362 (2.4%) overall were reported to have copy number changes with associated clinical significance (pCNC), 201/3090 (6.5%) when ascertained with an abnormal ultrasound, 50/5108 (1.0%) when ascertained because of increased maternal age and 44/4164 (1.1%) for all other ascertainment groups (e.g. parental anxiety and abnormal serum screening result). When additional prenatal microarray studies are included in which ascertainment was restricted to fetuses with abnormal ultrasound scans, 262/3730 (7.0%) were reported to have pCNCs.
Jonathan L A Callaway; Lisa G Shaffer; Lyn S Chitty; Jill A Rosenfeld; John A Crolla
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Review     Date:  2013-09-08
Journal Detail:
Title:  Prenatal diagnosis     Volume:  33     ISSN:  1097-0223     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  2013 Dec 
Date Detail:
Created Date:  2013-12-05     Completed Date:  2014-08-08     Revised Date:  2014-09-24    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  England    
Other Details:
Languages:  eng     Pagination:  1119-23     Citation Subset:  IM    
Copyright Information:
© 2013 John Wiley & Sons, Ltd.
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MeSH Terms
Chromosome Aberrations
Cytogenetic Analysis*
Maternal Age
Microarray Analysis*
Prenatal Diagnosis / methods*
Ultrasonography, Prenatal
Grant Support
RP-PG-0707-10107//Department of Health; //Medical Research Council

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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