Thanks to recent progress in foetal imaging, it is now possible to detect many anatomical defects at earlier gestational age. To illustrate the importance of prenatal diagnosis and the impact of extracardiac congenital anomalies we presented the cases of sibling with prenatal diagnosis of hypoplastic left heart syndrome (HLHS) and post-mortem diagnosis of adrenal hypoplasia.
Prenatal diagnosis was made in one mother twice, in two subsequent pregnancies, respectively at 22 and 18 weeks gestational age. The mother-to-be was referred to specialist foetal echocardiography because of suspected image of the heart. After the diagnosis was made, future parents were thoroughly informed about prognosis and possible management and decided to continue pregnancy, and treat a newborn, despite the fact that the foetal defect was diagnosed subsequently. The two newborns underwent surgical treatment and no complications occurred during the surgery. The children died after Norwood operation among the symptoms of acute adrenal failure. In post-mortem examination of the younger, the severe adrenal hypoplasia was identified.
Prenatal diagnosis enables to make informed, conscious decisions at appropriate gestational age. Detection of congenital heart defect should incline an ultrasonographer towards searching for extracardiac lesions, which might significantly influence prognosis and surgical outcomes.