Wang Y, et al. - This trial was designed in order to gauge the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. This technique was unveiled to be a reliable and high-resolution technology. Its utility was recommended as the first-tier test for prenatal diagnosis of congenital heart disease in clinical practice.

Methods

• The enrollment consisted of 602 prenatal cases of congenital heart disease.
• SNP array was used for the analysis, for a 5-year period.

Results

• Pathogenic chromosomal abnormalities were detected in 125 (20.8%) cases.
• Among these, 52.0% of them were numerical chromosomal abnormalities.
• The detection rates of likely pathogenic copy number variations and variants of uncertain significance were determined to be 1.3% and 6.0%, respectively.
• Substantially higher detection rate was noted in congenital heart disease plus additional structural anomalies (48.9% vs. 14.3%, P < 0.0001) or intrauterine growth retardation group (50.0% vs. 14.3%, P =0.044) than that in isolated congenital heart disease group.
• The detection rate in congenital heart disease with additional structural anomalies group appeared to be considerably higher than that in congenital heart disease with soft markers group (48.9% vs. 19.8%, P < 0.0001).
• The detection rates between congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs. 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs. 50.0%), as well as congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs. 14.3%) did not report any notable variation.
• A prominently higher detection rate was discovered in fetuses with congenital heart disease plus mild ventriculomegaly than those with other types of soft markers (50.0% vs. 15.6%, P < 0.05).