The NICHD has recognized the research work of Dr Mary Norton and Dr Teresa Sparks into nonimmune hydrops fetalis, in a recent article Promoting Healthy Pregnancy, Labor, and Delivery. Their work has been focusing on using exome sequencing to improve the ability to detect genes involved in the development of nonimmune hydrops fetalis.
Hydrops is a serious condition where abnormal fluid builds up inside the fetus — usually the abdominal cavity or lungs. Using exome sequencing, they have been able to diagnose the cause of this disorder in one third of previously unexplained cases.