How do you know if you’re making the right medical decision for your child?
Nine years ago, Rosamaria Rand and her family faced this difficult question. While pregnant, Rosamaria learned that her daughter, Alexa, had a severe heart defect known as hypoplastic left heart syndrome (HLHS), where half the heart fails to develop properly. Doctors told the Rands that most children born with HLHS go through a process known as single ventricle palliation or “SVP”— a series of three surgeries to reconstruct the heart so it can function with a single working ventricle. They also let the Rands know that only about 50 percent of patients treated this way survive to adulthood.
Alexa had her initial procedure in utero (before she was born) at Boston Children’s. At this time, her parents learned about an alternative treatment method to SVP that can help patients with HLHS. Under development at Boston Children’s, this relatively new approach held the promise of helping children born with HLHS avoid long-term complications and improve their overall health. …
Imagine for a moment that it’s 2001, and you’re Jennifer Miller. You’re pregnant with your second baby, and an ultrasound shows that his heart isn’t developing normally: In fact, the left side of his heart has a problem so significant it will stop developing normally from that point on. Your unborn baby has a severe blockage of the aortic valve, known as stenosis, which will lead to a rare and potentially fatal condition called hypoplastic left heart syndrome (HLHS) at birth.
Now imagine that you’re Jack Miller. As you float in the quiet darkness of the womb, your heart is the size of a grape and that troublesome valve that won’t deliver blood from the left ventricle of your body is only as big as the head of a ballpoint pen.
What happened next put the Millers on the front page of the New York Times and in TIME magazine.
Yesterday we shared a patient story, written by a mother whose baby was born with a congenital heart defect (CHD) that wasn’t recognized until hours after birth. Thankfully, once her condition was discovered, baby Lindsay was rushed to Children’s Hospital Boston in time for open-heart surgery. It’s a story with a happy ending, but Lindsay’s first week of life was very touch and go, which caused her parents almost unbearable amounts of stress and worry.
But had Lindsay’s heart defect been recognized prior to birth, much of that anxiety might have been avoided. When a heart condition is diagnosed prenatally, caregivers can proactively provide additional testing, delivery planning and counseling that benefits the baby’s health and parents’ piece of mind.
In some cases, it’s even possible to perform fetal therapy on the child before he or she is even born. Children’s Fetal Cardiology Program can try to repair heart valves the size of a pen point in a fetal heart no bigger than a grape; all while the child is still in the mother’s womb.
Fetal or in-utero therapy is a very complex process that brings together cardiologists, obstetricians, anesthesiologists and nurses in a team effort to perform these procedures. In the following video, Wayne Tworetzky, MD, director of Children Fetal Cardiovascular Program discusses how difficult these procedures can be, not just because of the small size of fetal hearts, but also because of complications that can arise from performing invasive surgery on a fetus when the mother carrying the baby is perfectly healthy.
In-utero heart surgery is an amazing feat of modern medicine, but before doctors ever get to that point a problem needs to be recognized. Ultrasounds are essential in monitoring fetus development in the womb, but they’re not perfect.
“Virtually all pregnant women who receive pre-natal care will have a fetal ultrasound during the course of their pregnancy, but that doesn’t mean the ultrasound catches everything,” says Tworetzky. “Congenital heart defects such as hypoplastic left heart syndrome or transposition of the great arteries, and others, can be detected by ultrasound, but research shows that about half the time, they’re overlooked.”
When heart defects go undetected it can produce a host of health problems when the child is born, many of which can have long-lasting effects. But when heart conditions are caught early, caregivers can provide parents with counseling on treatment options and a planned delivery with appropriate pediatric and obstetric staff present.
“With planned and specially managed care before and after delivery of a child with a CHD, caregivers can treat the infant’s heart right from the start,” Tworetzky says. “They can also minimize the risks for future problems.
During a fetal ultrasound, Tworetzky suggests parents ask the technician and the doctor the following questions concerning the fetal heart:
- Do you see four chambers in the baby’s heart? (Desired answer is yes)
- Are there two upper chambers (left and right atria) with valves controlling blood flow into the heart? (Desired answer is yes)
- Are there two lower chambers (left and right ventricles) with valves controlling blood flow out to the body (aortic) and lungs (pulmonary)? (Desired answer is yes)
- Do the two valves and vessels (aorta and pulmonary arteries) exit the heart in a crossing fashion? (Desired answer is yes)
- Are there any large holes between the lower chambers of the heart? (Desired answer is no)
- Is the baby’s heart normal? (Desired answer is yes)
If the answers to the above are as desired, then almost all serious heart defects, and > 90% of all heart defects, can be ruled out.
If the ultrasound shows the possibility of a heart defect, parents should immediately make an appointment with a pediatric cardiologist, who will have access to the most advanced and accurate diagnostic tests. “If further testing show signs of a heart defect your caregivers will help you plan appropriately for your baby’s birth,” Tworetzky says. “This way you’ve given clinicians as much time as possible to make the birth, and early treatment, as smooth as possible.”
One treatment option—and it sounds like something out of science fiction—is repairing CHDs on hearts no bigger than a grape while the baby is still in the mother’s womb.
As you might imagine, it’s an incredibly complex and delicate procedure that brings together doctors, surgeons and nurses. In the video below, Tworetzky discusses how difficult these procedures can be, not just because of the small size of fetal hearts, but also because of complications that can arise from performing invasive surgery on a fetus when the mother carrying the baby is perfectly healthy.
And in this recent interview with NPR, Tworetzky talks about fetal cardiology and we hear from the parents of a Children’s patient who had surgery while she was still in her mother’s womb.