Usually, physicians can't explain why the heart failed to develop properly. Having one child with a CHD only slightly increases the risk that a sibling will, too, says Dr. Webb, and most babies with CHDs have parents with healthy hearts. However, some prenatal risk factors do exist, such as uncontrolled diabetes and certain medications, including Accutane, the acne drug.
Pinpointing just which of the many defects afflicts a baby requires an echocardiogram, a test that, using sound waves, provides a detailed look at the working heart -- as small as the size of a walnut in a newborn. Some parents do get an early warning from a routine ultrasound as early as 16 weeks, although the CHDs most likely to be picked up prenatally tend to be the most serious (and least common), says Dr. Lacro.
During a 20-week ultrasound, a radiology technician told Jennifer Mitchell, of Chicago, that she didn't see all four chambers of the heart; then a fetal echocardiogram revealed that her baby, Noah, had only half a heart. Mitchell arranged to give birth in the hospital best equipped to care for her child. Now at 18 months, Noah has had two of the three surgeries he needs and is developing normally.
Nuchal Translucency (NT) Test
While fetal echocardiograms are reserved for at-risk babies, other parents-to-be can use a nuchal translucency (NT) test. "This ultrasound measures the back of the fetus's neck as early as 10 weeks, and an above-average measurement suggests an increased risk of a heart defect," says Dr. Rychik. It can also screen for Down syndrome and other chromosomal abnormalities. Still, NT screening isn't foolproof. Most fetuses with increased NT measurements will not have heart defects, says Dr. Lacro, and many CHDs will not be identified.
Whether a traditional or nuchal ultrasound indicates an increased risk for a CHD, an echocardiogram provides the diagnosis, which in turn determines the immediate course of action. For structural defects, such as holes and narrow valves, this knowledge means preparing for the best possible care from the moment of birth, as the Mitchells did. Problems related to function, such as rhythm abnormality, may require the mom-to-be to take oral medicine to help control the fetus's heart defect. In rare cases, doctors may perform surgery before birth to save the heart. However, fetal intervention is seldom used to correct CHDs, experts say, because the benefits of this new science generally don't outweigh the risks of operating on both mother and fetus. "The baby usually does fine throughout the pregnancy, and most defects can be successfully treated after birth," Dr. Lacro says.
Doctors may hold off on surgery for up to a year to see if a simple defect, such as a hole, heals on its own, but today's thinking is that surgery for complex problems shouldn't be delayed. "We used to assume a baby couldn't tolerate a complicated repair, but now we know that most babies do better with aggressive treatment," says Charles Fraser, MD, chief of pediatric cardiovascular surgery at Texas Children's Hospital, in Houston. Until surgery is performed, a baby may be put on medicine to thin his blood or help his heart function.
Sometimes blocked valves or small holes can be fixed with catheterization rather than open-heart surgery ("open-heart" means a bypass machine redirects blood flow). With catheterization, a tube is inserted into a blood vessel in the groin and guided to the heart, where a balloon is inflated to open a valve or to plug a hole. "If you can get good results with this less invasive technique, it's the superior option," says Dr. Fraser.
Holes, the most common defects, are also the most easily repaired, and the kids born with them go on to lead normal, unrestricted lives. And quality of life is still good for the children who face multiple procedures or closer monitoring, says Dr. Fraser. Some kids with complex, ongoing problems do face physical limitations, such as needing to rest during gym class. "But the majority of these kids will go to school, and have careers and families," says Dr. Fraser.
All children born with heart defects will have two lifelong reminders of their medical history:
- First, they will always need antibiotics before dental procedures, especially cleanings and extractions, to prevent an infection called endocarditis. During a cleaning, for example, bacteria that live harmlessly on the skin may enter the blood and infect the heart. That's not an excuse to avoid the dentist, though: "Multiple cavities also allow bacteria into the bloodstream," says Dr. Lacro. But that shouldn't be an issue for a child who brushes well and gets regular checkups. The other reminder is that as these kids grow up, they will need to be monitored continually by an adult congenital heart expert -- a specialty that was recently created, because there are 3 million adults living normal lives with CHDs, says Dr. Webb.
- Then there are the physical and emotional scars. "Even though Hayden is cured, I don't think I'll ever be over it," says Schenck. Recently the little girl, now 2 years old, noticed the scar across her torso. "She asked, 'Mommy, why do I have a line?'" recalls Schenck. "I said she had an operation because something inside was broken and needed to be fixed, and the line was from all the doctors who kissed her boo-boo to make it all better."