When late-night TV host Jimmy Kimmel spoke earlier this year about his newborn son’s heart defect, it shined a national spotlight on the approximately one-in-100 babies who are born with a congenital abnormality of the heart. Such defects can range from a small hole between the chambers of the heart to faulty valves and malformed blood vessels — even hearts where the right or left half is completely absent. While many pregnant women in the United States undergo a midgestation fetal ultrasound, it remains too common that heart defects go undetected until after birth, says Mark Sklansky, MD, chief of the UCLA Division of Pediatric Cardiology. “We know that detecting heart defects before birth can make a great difference in the lives of affected children,” he says.
The key to effective screening includes utilization of advanced ultrasound technology and a very high level of training and expertise, says Gary M. Satou, MD, codirector of the UCLA Fetal Cardiology Program and director of pediatric echocardiography at UCLA. “With proper expertise and resources, most babies with heart conditions can be identified before they are born,” he says, paving the way for development of a delivery plan and postnatal treatment, as well as the education of the parents about the needs and future care of their child.
Technical advances in fetal echocardiography — the use of ultrasound to create detailed images of the structures of the fetal heart — allows experts to be more precise and accurate in their diagnoses. Dr. Satou notes that ultrasound uses no radiation and poses no significant risk to either the mother or developing fetus. Both Drs. Satou and Sklansky devote time to training other doctors and ultrasound specialists to effectively conduct fetal echocardiography. It is their hope that the improved skills of these providers will increase the number of children with congenital heart defects who are identified prenatally.
In addition to a mid-gestation ultrasound examination, which looks at the four chambers and the main arteries and veins of the fetal heart, transvaginal ultrasound may identify the risk of a heart defect as early as the 11th or 12th week. “We do not screen the fetal heart routinely that early in gestation, but the transvaginal ultrasound can pick up findings in the fetus that might point to a greater risk of a heart defect,” Dr. Sklansky says.
Once a congenital heart problem is diagnosed, the pregnancy can be carefully monitored, and most will continue to full term. In addition, the large majority of patients will be able to have a vaginal delivery. If the defect is not severe, a newborn with congenital heart disease still may require medication and continued observation. While some babies will need heart surgery, others may require cardiac catheterization, in which a flexible tube is inserted into a blood vessel threaded to the heart to test blood flow, pressures and take pictures of the heart.
“The care of children with congenital heart abnormalities has advanced significantly. Now the large majority of children who require treatment and heart surgery will not only survive, but have a meaningful and often completely normal quality of life,” Dr. Satou says. “Prenatal detection of these children, along with their postnatal care, has contributed substantially to these excellent outcomes.”