© Taylor and Francis Group

The Journal of Maternal Fetal & Neonatal Medicine (2021)

DOI 10.1080/14767058.2021.1940933

Received: 16 February 2021 / Accepted: 4 June 2021


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



William N Evans, MD, Ruben J Acherman, MD, Michael L Ciccolo, MD, Juan Lehoux, MD, Humberto Restrepo, MD, MPH



Children’s Heart Center Nevada, 3006 S Maryland Parkway, Ste 690, Las Vegas, NV 89109, USA. Email: WNevans50@aol.com.



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 with-out 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 syn-drome, 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 ¼ 0.92, p ¼ .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.


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