Key result
Fetal isolated ventricular noncompaction with a TNNT2 gene mutation was detected prenatally at 32 weeks of gestation using obstetric growth scan and fetal echocardiogram.
Why the study?
Ventricular noncompaction is a rarely reported cardiomyopathy characterized by overdeveloped ventricular trabeculae and deep recess.
Case Report (n=1)
Isolated ventricular noncompaction can be detected prenatally during late pregnancy, highlighting the utility of fetal echocardiography and genetic testing in suspected cases.
Answers are grounded in this paper and cite their sources.
Supports targeted prenatal genetic testing in fetal VNC; leaves open routine screening recommendations pending larger studies.
BACKGROUND: Ventricular noncompaction (VNC) is a cardiomyopathy characterized by overdeveloped ventricular trabeculaes and deep recess, which has been rarely reported. CASE PRESENTATION: A 29-year-old Chinese pregnant woman with no obvious fetal abnormality in regular prenatal examination during first and second trimester. However, at 32 weeks of gestation, both obstetric growth scan and fetal echocardiogram revealed an enlarged heart with grid-like changes at the apical region. Eventually, the genetic and autopsy findings indicated the deceased infant with VNC. CONCLUSION: Isolated VNC could be detected prenatally, even during the late pregnancy. Fetuses suspected of VNC should be offered genetic tests.
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Zhang et al. (2022) conducted a case report in Fetal isolated ventricular noncompaction (n=1). Prenatal diagnosis (obstetric growth scan and fetal echocardiogram) was evaluated on Diagnosis of ventricular noncompaction. Fetal isolated ventricular noncompaction with a TNNT2 gene mutation was detected prenatally at 32 weeks of gestation using obstetric growth scan and fetal echocardiogram.
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