Lea en español Evelyn Hamm was born with a hole in the middle of her heart. But her parents and her doctors expected it. During her 20-week anatomy scan, doctors detected the congenital heart condition, an atrioventricular septal defect.
While uncommon, the defect is very common among children born with another condition – Trisomy 21, also known as Down syndrome. So common, in fact, it was the presence of this defect that alerted doctors to Evelyn's extra chromosome. "We did not do prenatal genetic testing," said Rachel Hamm, who was in her late 20s when she became pregnant with Evelyn, her first child.
Initially, the news that her baby was facing two serious health conditions "was overwhelming." But during the last few months of her pregnancy, Rachel and her team of doctors had two things families of children with Down syndrome did not have decades ago: time to prepare, and a wealth of knowledge about how to treat conditions that once signaled an early death. Advances in cardiac treatment and care over the past several decades have led to greatly improved long-term survival rates for children born with heart defects – including those with Down syndrome.
"Prenatal testing has allowed us to diagnose genetic syndromes and congenital heart defects sooner so that we can treat them sooner," said Dr. Shaun Setty, medical director of pediatric and adult congenital cardiac surgery at Miller's Children's Hospital and Long Beach Memorial Medical Center in Long Beach, California. .
