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Array Comparative Genomic Hybridization and Fetal Congenital Heart Defects - A systematic review and meta-analysis.
MedLine Citation:
PMID:  25319878     Owner:  NLM     Status:  Publisher    
OBJECTIVE: Array comparative genomic hybridization (aCGH) is a molecular cytogenetic technique that is able to detect the presence of copy number variants (CNVs) within the genome. The detection rate of imbalances of aCGH compared to the standard karyotype and FISH 22q11 in the setting of prenatally diagnosed cardiac malformations has been reported in several studies. The objective of our study was to perform a systematic literature review and meta-anlysis to document the additional diagnostic gain of aCGH in cases of congenital heart disease (CHD) diagnosed on prenatal ultrasound, in order to assist clinicians to determine whether aCGH analysis is warranted when ultrasonographic diagnosis of CHD is made, and to guide counseling in this setting.
METHODS: All articles in the PubMed, Embase and Web of Science database from January 2007 to September 2014 describing CNVs in prenatal cases of CHD were included. Search terms were: array comparative genomic hybridization, copy number variants, fetal congenital heart defects. Articles regarding karyotyping or 22q11 deletion only were excluded.
RESULTS: Thirteen publications met the inclusion criteria for the analysis. Meta-analysis indicates an incremental yield of 7,0% (95% CI 5,3; 8,6) by aCGH, after exclusion of aneuploidy and 22q11 microdeletion. Subgroup results show 3,4%(95% CI 0,3; 6,6) incremental yield in isolated CHD and 9,3% (95% CI 6,6; 12) when extracardiac malformations are present. Overall incremental yield of 12% (95%CI 7,6; 16) was found including 22q11 deletion. There was an additional yield of 3,4% (95%CI 2,1; 4,6) of variants of unknown significance (VOUS).
DISCUSSION: In this review, we provide an overview of published data and discuss benefits and limitations of aCGH. If karyotyping and FISH22q11 are normal, aCGH has an additional value, detecting pathogenic CNV in 7,0% of prenatally encountered CHD, with a 3,4% additional yield of VOUS.
Fenna A R Jansen; Yair J Blumenfeld; Allan Fisher; Jan Maarten Cobben; Anthony O Odibo; Antoni Borrell; Monique C Haak
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-16
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  -     ISSN:  1469-0705     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-16     Completed Date:  -     Revised Date:  2014-10-17    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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This article is protected by copyright. All rights reserved.
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