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 @entity299 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 @entity299 ( @entity299 ) diagnosed on prenatal ultrasound, in order to assist clinicians to determine whether aCGH analysis is warranted when ultrasonographic diagnosis of @entity299 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 @entity299 were included. Search terms were: array comparative genomic hybridization, copy number variants, fetal @entity4297 . 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 @entity299 and 9,3% (95% CI 6,6; 12) when @entity600 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 @entity471 in 7,0% of prenatally encountered @entity299 , with a 3,4% additional yield of VOUS.

Array Comparative Genomic Hybridization and Fetal XXXX - A systematic review and meta-analysis.

@entity471 :: ('12143', 'Species') :: ['CNV'] @entity600 :: ('MESH:D000014', 'Disease') :: ['extracardiac malformations'] @entity4297 :: ('MESH:D006330', 'Disease') :: ['congenital heart defects'] @entity299 :: ('MESH:D006331', 'Disease') :: ['CHD', 'congenital heart disease', 'cardiac malformations']
@entity4297 :: (MESH:D006330,Disease) :: ['Congenital Heart Defects']
