Prenatal diagnosis of isolated perimembranous ventricular septal defects undergoing primary surgical repair in infancy

Abstract

Objective

We retrospectively analyzed our center’s experience with the prenatal diagnosis of isolated perimembranous ventricular septal defects that underwent primary surgical repair in infancy.

Methods

We identified patients born in Southern Nevada, between October 2012 and October 2020, with prenatal care that underwent surgical closure of an isolated large perimembranous ventricular septal defect between 1 and 12 months of age. The description at surgery defined ventricular septal defect morphology. We included only those with situs solitus, levocardia without dextroposition, and without any other cardiovascular abnormality. We analyzed prenatal detection rates for each of the eight years.

Results

We identified 81 patients. Of the 81, 35 (43%) had trisomy 21. We identified no other aneuploidies in those that underwent surgical repair; however, 1 had a 15q13.3 deletion syndrome, and 1 had a 22 q11.2 deletion syndrome. Of the 81, 27 (33%) overall were prenatally diagnosed. Increasing prenatal detection rates strongly correlated with time (R = 0.92, p = .002).

Conclusions

Trisomy 21 is common in isolated perimembranous ventricular septal defects undergoing primary repair in infancy. Further, prenatal detection rates significantly improved over time, up to 65% detection in the current years.

Keywords:

• Prenatal diagnosis
• perimembranous ventricular septal defects
• aneuploidy
• fetal echocardiography
• congenital heart disease

Acknowledgments

This work would not be possible without the contributions of many. The authors first thank the perinatologists and the perinatal sonographers at the following Southern Nevada maternal–fetal medicine programs: High Risk Pregnancy Center, Desert Perinatal Associates, UNLV Perinatology, Finally, we thank all the fetal cardiologists at the Children’s Heart Center Nevada.

Disclosure statement

The authors declared that there is no conflict of interest.