A minimally invasive cure

In the 1960s, doctors could do little to help fetuses in distress. Indeed, much of the time they didn’t even know there was a problem. For diagnosis, doctors had only their hands and their stethoscopes. Even if a physician could identify a problem, the challenges of conducting a successful procedure during pregnancy were all but insurmountable.

Today, it’s a totally different story. Doctors can identify an ever-growing number of conditions and anomalies in fetuses and routinely use minimally invasive techniques to treat them in utero.

What enabled this leap forward? In a word: ultrasound. Its development and perfection starting in the 1980s—with Yale as an early leader in the field—opened the door to in utero procedures, said Joshua Copel, MD, professor of obstetrics, gynecology, and reproductive sciences and of pediatrics. For the first time, physicians could see inside the fetus while it was still inside womb. This allowed them not only to identify problems but also to enter and fix them, said Copel, a world-renowned authority on fetal ultrasound and in utero procedures.

“It’s all about ultrasound,” said Copel, who came to Yale in 1983 because of its growing expertise in the practice. “It’s about the ability make diagnoses early enough to treat and to guide treatments.”

The results have often been lifesaving: A fetus that would have died as recently as 40 years ago now has a much better chance of survival, Copel said. Take twin-twin transfusion syndrome, in which one of twins sharing the same placenta gets too much blood and other too little, he said. The condition can lead to death for one or both of the fetuses. Thanks to ultrasound, the doctors can insert a tiny needle several milligrams wide, containing a telescope and a laser, into the uterus. After identifying the offending blood vessels, the physician uses the laser to cauterize them, correcting the blood flow into the two fetuses.

Then there’s a buildup of fluid in the chest, another potentially fatal anomaly, Copel said. To treat the condition, a small needle is used to insert a tiny shunt into the fetus, draining the fluid into the amniotic fluid, he said.

Yet another technique seeks to repair spina bifida, an anomaly in which the spine fails to fully close around the spinal column, leading to paralysis and other problems. Using a minimally invasive technique, doctors can repair the anomaly before birth, Copel said. Studies show that fetuses that undergo the procedure at 24 to 28 weeks have better outcomes, he continued. The procedure is not yet done at Yale, but will be soon, he said.

Copel urged caution in doing some procedures—doctors need to make sure the condition is serious enough to require them. “We have to understand the natural progression of the disease and do the studies to show that a proposed intervention actually improves outcomes,” he said.

Researchers at Yale, meanwhile, are working to improve techniques already in use, and pioneer new ones, said Yale Maternal-Fetal Medicine Director Uma Reddy, MD, MPH, professor of obstetrics, gynecology, and reproductive sciences. She cited the work of Copel’s partner, Ozan Bahtiyar, MD, associate professor of obstetrics, gynecology, and reproductive sciences, who is seeking to create 3D images of placentas, giving doctors even more precise roadmaps for in utero procedures.

Yale Medicine has the only regional hospital with the capability to perform these procedures, leading to a steady increase in patients, Reddy said. Yale is planning to create a formal center for the growing practice and also is trying to better understand patient preferences, she said.

“Yale is lucky to have Josh Copel and Ozan Bahtiyar doing these procedures,” Reddy said. “We’re getting greater numbers of referrals from farther and farther away.”

Even more ambitious procedures may be on the horizon, Copel said, including correcting heart conditions in utero and bone marrow transplants in fetuses with sickle cell anemia and similar diseases.

“There’s a lot more for us to do,” he said. “We’re good at finding things, and we’re still learning what should be treated prenatally and how to treat it best.”