First Trimester Detection of Heart-Hand Syndrome

Abstract

AbstractHeart-hand syndrome is a heterogenous group of congenital disorders characterized by upper limb anomalies and congenital heart defects. We report the antenatal scan findings in a 14 week fetus in which bilateral radial ray defect was detected along with cardiac malformations at routine first trimester aneuploidy scan. The cardiac malformations were pulmonary atresia with ventricular septal defect. This was confirmed by clinical and pathological correlation. There are few case reports of early prenatal detection of this syndrome at 14 weeks.