Congenital Heart Defects

Diagnosis of all fetal malformations is based upon fetal ultrasound assessment. Diagnosis of congenital heart defects is challenging in the first trimester in which period it can be suspected by abnormal size of the heart chambers and abnormal Doppler flows. In the second trimester the diagnosis can be carried out in expert hands for most cases  by ultrasound assessment including fetal echocardiography. The diagnostic path includes detailed ultrasound scan with fetal cardiac scanning, amniocentesis or CVS to exclude associated chomosomal or genetic conditions.

Delivery management and postnatal treatment is rather heterogeneous according to the heterogeneity of this group of conditions. It is debated whether prenatally diagnosed cardiac defects requires or not delivery with cesarean section in order to improve the outcome. In most cases vaginal delivery can be proposed safely and induction of labour is discussed at term. The classic treatment is carried out at birth with repair of the defect in order to restore anatomy and function.  In utero treatment of some cardiac defects was proposed, however the extent to which this approach can be applied in individual patients is still debated and limited to severe aortic or pulmonic stenosis (percutaneous ultrasound guided fetal surgery for fetal balloon valuloplasty). Fetal surgery with valvuloplasty was shown to reduce the need for univentricular circulations as compared to cases with no prenatal intervention.