Rare Diseases Symptoms Automatic Extraction

Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease.

[22q11.2 deletion syndrome]

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.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.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).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.

Diseases presenting "heart disease" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • child syndrome
  • classical phenylketonuria
  • cohen syndrome
  • congenital diaphragmatic hernia
  • dentinogenesis imperfecta
  • esophageal adenocarcinoma
  • fabry disease
  • familial mediterranean fever
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • omenn syndrome
  • phenylketonuria
  • sneddon syndrome
  • systemic capillary leak syndrome
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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