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Increased nuchal translucency in fetus with neonatal dilated cardiomyopathy and MAP3K7 genetic variant

Increased nuchal translucency is associated with multiple genetic syndromes and fetal structural abnormalities. Thus, genetic testing and fetal echocardiography are recommended to investigate potential etiologies in affected cases. The association between increased nuchal translucency and fetal malformation is well established1. However, to our knowledge, the association between increased nuchal translucency and subsequent primary cardiomyopathy without structural cardiac malformation has not been described. We present a case which had an abnormal 10-week dating ultrasound examination (Figure 1), followed by detection during routine first-trimester aneuploidy screening at 12 + 2 weeks of a nuchal translucency thickness of 3.4 mm. The patient was counselled regarding the possibility of aneuploidy and structural malformations. She declined to undergo diagnostic testing and opted for non-invasive aneuploidy screening, which yielded a fetal fraction of 6% and revealed a low-risk male fetus. A fetal echocardiogram was performed at 22 + 6 weeks’ gestation, following American Institute of Ultrasound in Medicine guidelines, which found no evidence of cardiac malformation. Given the patient’s medical history, which