Added value of prenatal array Comparative Genomic Hybridization (aCGH) in fetuses with congenital heart disease: a single-center experience

Background Congenital heart defects (CHD) are the most common birth defects and can be associated with extracardiac malformations (ECM) and genetic anomalies. Recent studies have shown that the detection rate of genetic aberrations is 17% higher with aCGH compared to conventional karyotyping in patients with postnatally diagnosed CHD and other anomalies. However, data on prenatal aCGH in CHD is still scarce. The aim of our study was to assess the added benefit from aCGH in a CHD population.

Material and methods In this retrospective cohort study, fetuses diagnosed with CHD between June 2009 to June 2020 were included. We collected maternal, fetal and peripartal data from electronic data charts and classified CHD according to their leading prenatal defect. At our clinic, we offer prenatal aCGH since 2014.

Results We included 717 singleton pregnancies. In 315/717 (43.9%) cases, prenatal invasive testing was performed. 136/315 (43.2%) karyotypes were abnormal, but had aCGH performed in 13/136 cases, with 4/13 abnormal results. On the other hand, aCGH was performed in 93/179 normal karyotypes, with 12/93 cases having abnormal aCGH. Overall, the likelihood of an abnormal aCGH if a normal karyotype is present is 12.9% (12/93) vs. 30.7% (4/13), OR 0.33 (95% CI 0.1-1.11). There was not one specific CHD associated with a pathologic aCGH, however, 9/16 (56%) of total abnormal aCGH had ECM present.

Conclusion Our study suggests that in prenatally suspected CHD, aCGH should always be performed, as it offers additional information not covered by conventional karyotyping, particularly when associated with ECM.

Publication History

Article published online:
11 October 2022