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Grand Rounds

Chromosomal Microarray Analysis for Congenital Heart Disease – Clinically Relevant Findings

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BACKGROUND AND PURPOSE:

  • ACMG/ACOG recommend the use of microarrays in the setting of fetal anomalies to identify not only aneuploidies, but also copy number variants
  • Xia et al. (Prenatal Diagnosis, 2018) examined chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD)

METHODS:

  • Cohort study
  • Participants
    • Fetal CHD detected by prenatal echocardiography
  • Standard ultrasound done between 20 and 26 weeks, followed by fetal echo if cardiac anomaly detected
  • Chromosomal analysis
    • Conventional G-banded cytogenetic analysis
    • Comparative microarray analysis was performed using Affymetrix CytoScan HD platform
  • Invasive diagnostic testing
    • Amniocentesis between 18-24 weeks, with consent
    • Cordocentesis performed if after 24 weeks
  • Simple CHD
    • Single ASD (type II)
      • Atrioventricular septal defects were excluded
    • VSD
  • Complex CHD
    • ≥2 congenital cardiovascular anomalies
    • Conotruncal defects
    • Aortic defects
    • Other defects (e.g., hypoplastic left heart syndrome)

RESULTS:

  • 110 fetuses included in this study (87 with simple CHD)
  • Conventional G-banding: Clinically significant chromosomal abnormalities were identified in 7.3% of fetuses
    • Chromosomal aneuploidies
      • 2 cases with trisomy 21
      • 2 cases with trisomy 18
      • 1 case with trisomy 13
      • 1 unusual case of mosaic trisomy 21
    • Chromosomal structural changes
      • 1 pericentric inversion
      • 1 deletion
    • 2 balanced translocations (likely benign)
      • Not picked up by microarray)
    • Microarray: Identified additional pathogenic variants in 15.5% (n=17) of the cohort
      • 13 CNVs were known to be associated with CHD
      • 10 cases (8.2%) had CNVs related to well-known syndromes, including 22q deletion syndrome (n=4)
      • Complex CHD was much more likely to have a finding on microarray (26.5%) vs simple CHD (3.7%)
      • 1% of cases had no abnormalities on microarray
      • 6 fetuses had VUS and some of these cases still went on to termination
    • 10 genes were identified as likely novel CHD candidate genes through gene functional enrichment analysis
      • More research is necessary to determine if these genes are causative

CONCLUSION:

  • The authors found approximately 21% of fetuses with CHD had clinically significant results using microarray
  • Microarray is not only reliable and necessary technique to identify chromosomal pathology in the setting of CHD, but also may help find additional genes underlying congenital cardiac disease

Learn More – Primary Sources:

Clinical application of chromosomal microarray analysis for the prenatal diagnosis of chromosomal abnormalities and copy number variations in fetuses with congenital heart disease

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Related ObG Topics:

Microarrays and Microdeletions: Key Concepts Summarized
The Use of Microarrays in the Prenatal and Postnatal Setting – Current Professional Guidelines
Should Amniocentesis or Chorionic Villus Sampling Be Offered to All Pregnant Women?
Is Prenatal Microarray Use Justified as a First Tier Test for Fetal Congenital Heart Disease?

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