In patients with the severe heart defect hypoplastic left heart syndrome (HLHS) one of the heart's pumping chambers is severely underdeveloped. Reconstructive surgery for HLHS — currently a series of three planned procedures — has been refined over the past 25 years and survival rates have steadily improved. CHOP Research cardiologists have established a benchmark for outcomes for infants with HLHS in the present era by identifying that two-thirds of infants diagnosed with HLHS have an excellent chance of early survival following reconstructive surgery.
When prenatal diagnosis detects HLHS in a fetus, a comprehensive prenatal evaluation provides parents with an accurate prognosis. Instead of the staged surgical approach for HLHS, some parents choose to terminate a pregnancy or decline medical intervention at birth. The study, led by Jack Rychik, MD, medical director of the Hospital's Fetal Heart Program, and published in the journal Ultrasound in Obstetrics and Gynecology, may provide clarity to families and caregivers in categorizing the degree of mortality risk from this condition.
The study team reviewed the experience of 240 fetuses diagnosed with HLHS from 2004 to 2009 at Children's Hospital, which has one of the world's longest and most expensive experiences in performing staged surgical repair of HLHS. The team found a striking survival advantage in the two-thirds of fetuses with standard-risk compared to high-risk cases, in which patients have genetic and chromosomal defects, prematurity, or other heart abnormalities in addition to a severely underdeveloped left ventricle.
"After an initial prenatal diagnosis of HLHS, we strongly encourage families to receive a comprehensive evaluation including amniocentesis, so they may obtain a more accurate prognosis," says Dr. Rychik, who receives funding for his research work through the Robert and Delores Harrington Endowed Chair for Pediatric Cardiology at Children's Hospital. "In this way, families can have the best information during prenatal counseling by which to make their plans for the future of their fetus and newborn child."