This has to be said honestly, because it is why a VSD is worth a proper look rather than a shrug. A hole in the septum can occasionally be one visible component of something wider, and a specialist is checking for two things.
The first is other cardiac lesions. A VSD is a feature of several more complex conditions — tetralogy of Fallot, atrioventricular septal defect, coarctation of the aorta, double-outlet right ventricle. None of those is found by staring at the hole. They are found by working systematically through the outflow tracts, the great vessels, the arches and the valves, which is what a dedicated cardiac scan is for.
The second is a chromosomal or genetic condition. Where the VSD is genuinely isolated — nothing else abnormal anywhere on the scan — the chance of finding a chromosomal abnormality is low but not zero, and it would be wrong to give you a single tidy number for it.
Across the studies gathered in a 2024 review, the reported rate ranged from 0% to about 33%; that enormous spread reflects how strictly each study defined ‘isolated’, which test it used, and which families were referred in the first place, and the highest figures come from the older series (Frontiers in Genetics review, 2024).
Position appears to matter too: figures in that review put the rate at 3.13% for perimembranous VSDs against 0.93% for muscular ones, and Gómez and colleagues concluded that a muscular VSD carries a risk similar to that of a pregnancy with no finding at all. The most common single finding is a 22q11.
2 microdeletion, often called DiGeorge syndrome; a VSD is present in about 14% of people who have 22q11.2 deletion syndrome (Sauter et al., 2025). Heart differences are also common in Down’s syndrome — about half of all children with Down’s syndrome are born with a heart condition (Down’s Syndrome Association) — and in Edwards’ syndrome.
The asymmetry is what matters. A VSD found alongside another abnormality carries a considerably higher chance of an underlying genetic cause than one found entirely on its own.
In that series of 55 prenatally diagnosed isolated perimembranous VSDs, 34 families went on to genetic testing — 4 by NIPT and 30 by amniocentesis with a chromosomal microarray — and none of the 34 had a pathogenic or likely pathogenic finding (Gordin Kopylov et al., 2022).
Across babies found to have a heart condition of any kind, Royal Brompton puts the figure at about one in ten who will also have a problem affecting other organs or genes (Royal Brompton, NHS).
So a conversation about testing is worth having, and it is a conversation rather than an obligation. NIPT screens for the common trisomies from around 10 weeks, and some laboratories offer a 22q11.2 option — but it is a screening test, and a normal result does not exclude a microdeletion. Amniocentesis with a chromosomal microarray is the diagnostic test that can. Our genetic counselling service exists so that nobody has to weigh those options off the back of a leaflet handed over in a corridor.