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#Grand Rounds

Is Prenatal Microarray Use Justified as a First Tier Test for Fetal Congenital Heart Disease?

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BACKGROUND AND PURPOSE:

  • 20% of congenital heart disease (CHD) detected prenatally is caused by chromosomal anomalies
  • ACOG, SMFM and other international bodies recommend or suggest offering microarray analysis in the presence of fetal anomalies detected on ultrasound
  • Data is limited on whether there is significant diagnostic yield with microarray vs routine karyotype, including in the setting of prenatal CHD
  • Wang et al. (AJOG, 2018) evaluated the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease (CHD)

METHODS:

  • Prospective cohort study (2012-2017)
  • Cases of CHD were investigated using SNP microarray
  • The detection rates for the following conditions were compared
    • Isolated CHD
    • CHD and additional structural anomalies
    • CHD and intrauterine growth restriction
    • CHD with soft markers (e.g., short long bones, echogenic bowel, thickened nuchal fold)
    • CHD with ventriculomegaly

RESULTS:

  • 602 prenatal cases of CHD were included
  • Overall diagnostic yield
    • 20.8% if likely pathogenic findings were not included
    • 52.0% of these cases had numerical chromosomal abnormalities
  • Detection rate of likely pathogenic copy number variations and VUS were 1.3% and 6.0%, respectively
  • The detection rates were significantly increased when compared to isolated CHD
    • Isolated CHD: 14.3%
    • CHD and structural anomalies: 48.9% (P< .0001)
    • IUGR: 50.0% (P= .044)
  • The detection rate in CHD with additional structural anomalies group was significantly higher than that in CHD with soft markers group (48.9% vs 19.8%,P< .0001)
  • No significant difference was observed in the detection rates between any other group combinations
  • The detection rate in fetuses with CHD plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%,P< .05)
  • Additional yield using microarray vs karyotype
    • Atrioventricular septal defect (AVSD): 0%
    • Conotruncal defect: 16.9%
    • Truncus arteriosus: 44.4%
    • Interrupted aortic arch: 30.8%
    • Double outlet right ventricle: 15.0%
    • Tetralogy of Fallot: 13.6%
  • 22q11.2 Deletion/duplication was detected in 20 cases (3.3%)
    • All submicroscopic pathogenic CNVs identified in CHD with facial malformations were 22q11.2 microdeletion

CONCLUSION:

  • Chromosomal microarray analysis should be included as a first-tier test for prenatal diagnosis of CHD regardless of type of CHD or whether other ultrasound anomalies are involved
  • Consider 22q11.2 deletion syndrome in the case of CHD is accompanies by facial anomalies on prenatal ultrasound

Learn More – Primary Sources:

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study

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Related ObG Topics:

The Use of Microarrays in the Prenatal and Postnatal Setting – Current Professional Guidelines
Microarrays and Microdeletions: Key Concepts Summarized
The Chromosome – Structure and Number

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