title: Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease.
abstract: OBJECTIVE
  To evaluate the usefulness of array-based comparative genomic hybridization (aCGH) for prenatal genetic diagnosis of congenital heart disease (CHD), with and without associated anomalies, and to explore the relationship between submicroscopic chromosomal aberrations and CHD.
  
  
  METHODS
  In this prospective study we investigated 76 consecutive singleton fetuses with abnormal cardiac ultrasound findings, normal karyotype and negative or no fluorescence in-situ hybridization results for 22q11.2 deletion syndrome. All pregnancies underwent aCGH in a comprehensive search for chromosomal aberrations. The relationship between copy number variations (CNVs) and CHD was determined by comparing clinical findings to chromosomal databases.
  
  
  RESULTS
  CNVs that were benign or had no clinical significance were detected in 18/76 (23.7%) cases. CNVs of unknown clinical significance (i.e. VOUS) were detected in 4/76 (5.3%) cases. Pathogenic CNVs were detected in 5/76 (6.6%) cases. Fetuses with CHD and additional structural abnormalities demonstrated no difference in number of pathogenic CNVs when compared with fetuses with isolated CHD (7.4% (n = 2/27) vs 6.1% (n = 3/49), P > 0.05).
  
  
  CONCLUSIONS
  In this study cohort, aCGH analysis significantly improved the detection of submicroscopic chromosomal aberrations in pregnancies with CHD, as compared with conventional cytogenetics. Our results suggest that aCGH can provide additional genetic information in fetuses with abnormal heart findings.
authors: Department of Ultrasound, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, P.R. China.
authors: Y
authors: Y
authors: Yan
authors: Q
authors: Q
authors: Wu
authors: L
authors: L
authors: Zhang
authors: X
authors: X
authors: Wang
authors: S
authors: S
authors: Dan
authors: D
authors: D
authors: Deng
authors: L
authors: L
authors: Sun
authors: L
authors: L
authors: Yao
authors: Y
authors: Y
authors: Ma
authors: L
authors: L
authors: Wang
mesh_terms: D002869:Chromosome Aberrations / Q000196:embryology*; D055028:Comparative Genomic Hybridization; D056915:DNA Copy Number Variations; D004062:DiGeorge Syndrome / Q000175:diagnosis; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D046228:Microarray Analysis; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D011446:Prospective Studies
keywords: chromosomal aberration; copy number variations; karyotype; prenatal diagnosis