Making the Diagnosis in Utero Saves Baby
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Kaitlyn, a young mother of three, was shocked and heartbroken when her doctors discovered a serious problem with her fourth pregnancy in its 26th week. Her unborn baby had developed hydrops, a severe form of swelling that often results in death. Determined to seek input from experts, Kaitlyn turned to Ozhan Turan, MD, PhD, FACOG, Associate Professor of Obstetrics, Gynecology and Reproductive Sciences at the University Of Maryland School Of Medicine and director of Fetal Therapy at the University of Maryland Medical Center (UMMC).
When Dr. Turan assessed the baby’s heart, he noticed something strange. The heart was beating too fast at times and too slowly at other times, so he gathered a multidisciplinary team from the Division of Maternal Fetal Medicine and the Fetal Heart Program.
"We wanted to understand what was wrong with Kaitlyn's baby," he said. "Something was causing the hydrops and if we could figure out what, we might be able to reverse it."
Hydrops can be caused by a variety of factors, including heart defects, but exactly what kind of heart defect Kaitlyn’s baby was suffering from needed further exploration. The multidisciplinary team made the presumptive diagnosis of Long Q-T Syndrome (LQTS), a very rare genetic disorder that is infrequently diagnosed in utero.
With a diagnosis in hand, Dr. Turan began medicating Kaitlyn to correct her baby's abnormal heart rhythms.
"We had to use our best judgment to treat Kaitlyn's baby since there is so little in the medical literature about treating Long Q-T in utero. My fellows basically slept in Kaitlyn’s room to watch over her in case of any complications," Dr. Turan said.
Luckily, the medications helped correct the abnormal heart rhythms – enough to keep the pregnancy going for another three weeks. But 30 weeks into Kaitlyn’s pregnancy, she went into pre-term labor and Dr. Turan had to perform a C-section to deliver the baby, a little girl. Sudhir Vashist, MD, MBBS, a pediatric electrophysiologist, was also in the operating room to stabilize the baby before admitting her to the NICU. Once the baby was born, Dr. Turan and Dr. Vashist confirmed their diagnosis with a genetic test.
After about four months in the NICU, when Kaitlyn's daughter was strong enough, doctors performed heart surgery to implant a defibrillator to control her heart rhythms. She was released several days later. While she may need repeat surgeries to replace the device as she ages, she is otherwise healthy and doing well.
LQTS is a genetic disorder. Kaitlyn believes her grandmother may have had the condition since she died of an unknown heart problem at a young age. Now that the disorder has been found, future children can be tested for it in advance and treated appropriately.
More Information and Appointments
For additional information, or to make an appointment, please contact the center for Advanced Fetal Care at 410-328-3865.