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    
Abstract/OtherAbstract:
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.
Authors:
Jonathan L A Callaway; Lisa G Shaffer; Lyn S Chitty; Jill A Rosenfeld; John A Crolla
Related Documents :
6106953 - Preoperative orthoplast splinting in cross-leg flaps.
2614233 - Treatment of auricular haematoma by silicone rubber splints.
18434213 - Epilepsy prevalence by individual interview in a norwegian community.
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.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:
Chromosome Aberrations
Cytogenetic Analysis*
Female
Humans
Karyotype*
Maternal Age
Microarray Analysis*
Pregnancy
Prenatal Diagnosis / methods*
Ultrasonography, Prenatal
Grant Support
ID/Acronym/Agency:
RP-PG-0707-10107//Department of Health; //Medical Research Council

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


Previous Document:  The Tarenaya hassleriana Genome Provides Insight into Reproductive Trait and Genome Evolution of Cru...
Next Document:  High hip fracture risk in men with severe aortic calcification - MrOS study.