OBJECTIVES: To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated @entity299 ( @entity4297 ), and analyze genetic content. METHODS: Between 2003 and 2012, 200 fetuses were identified with left sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac @entity600 (n=64). We included cases with additional minor anomalies (n=39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. RESULTS: In 18 of the 54 isolated left sided @entity4297 we found 28 rare CNVs (prevalence 33%, average 1.6 @entity471 per @entity1 size 10.6kb - 2.2Mb). Our interpretation yielded clinically significant CNVs in 2 of 54 cases (4%) and variants of unknown significance in 3 other cases (6%). CONCLUSIONS: In left sided @entity4297 that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac @entity600 and @entity2008 influence the treatment plan and prognosis. This article is protected by copyright. All rights reserved.

XXXX variations in fetal @entity299 .

@entity1 :: ('9606', 'Species') :: ['person'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations'] @entity471 :: ('12143', 'Species') :: ['CNV'] @entity299 :: ('MESH:D006331', 'Disease') :: ['left sided congenital heart defects'] @entity2008 :: ('MESH:D002869', 'Disease') :: ['chromosomal abnormalities'] @entity4297 :: ('MESH:D006330', 'Disease') :: ['CHDs']
@entity2008 :: (MESH:D002869,Disease) :: ['Chromosomal abnormalities and copy number']
