When Kendall Macek was pregnant with her second child in late 2022, she sensed something was off. By 21 weeks, she was experiencing contractions and an unusually large abdomen. By 24 weeks, her OB-GYN suggested delivering her baby, which would have been an extremely risky intervention at that stage. That’s when Kendall turned to maternal-fetal medicine specialists 75 miles away in Houston, who ultimately saved her pregnancy and baby.
Kendall credits genetic testing as a significant component of her positive outcome. She appreciated how the genetic counseling team provided information without alarm.
“I honestly feel like it saved me because I had an idea of what was going on,” Kendall said. “For me, it was never scary. I like answers. I like a plan.”
A rare and complex case
Ramesha Papanna, MD, MPH, co-director of UTHealth Houston Fetal Center and professor and UTHealth Houston chair in fetal intervention at McGovern Medical School at UTHealth Houston, diagnosed Kendall with polyhydramnios, a condition causing excess amniotic fluid around the baby. While it is common in about 5% of pregnancies, the severity of Kendall’s condition was alarming.
“More often, polyhydramnios happens late in the pregnancy and is not a major discomfort for the patient,” Papanna said. “But in rare instances like Kendall’s, it can come very early and be severe.”
At 24 weeks, Kendall’s uterus was protruding out of her belly, which was the size of a basketball. Her amniotic fluid level equaled that of someone who was 40 weeks pregnant. Kendall said she was huge and in active labor.
The medical team performed an amnioreduction, a procedure to remove excess amniotic fluid, which provided temporary relief. Unfortunately, her amniotic fluid quickly built up again and remained dangerously high at 39 centimeters. A normal amount is under 16 centimeters.
Kendall’s treatment plan involved repeated amniotic fluid reductions, which were performed with unprecedented frequency. She underwent 10 in total, which removed a combined 26 liters of fluid, with specialists following innovative techniques to safeguard her pregnancy. The team’s primary goal was to enable Kendall to carry the baby as long as possible.
“Sometimes we had to do two or three procedures per week, which was much more often than typical cases,” Papanna said. “Kendall was brave and put herself through a lot of discomfort and pain to help improve the outcome for her baby,” Papanna said.
The physical toll was significant. Kendall spent five weeks on bed rest, with the final 3½ weeks in the hospital.
Critical role of genetic testing
Ann T. Wittman, a certified genetic counselor (CGC) at UT Physicians Maternal-Fetal Medicine Center – Texas Medical Center, guided Kendall through genetic testing and helped her navigate the emotional journey as she learned of her baby’s condition.
Wittman said that for years, the standard of care in genetic testing has been limited to a chromosomal microarray analysis. This examines the first two levels of testing: looking for an extra chromosome, as found in Down syndrome, or a chromosome duplication or deletion that causes a birth defect.
“But there’s a third level that is often helpful, as in Kendall’s case, that isn’t looking for an imbalance but rather any spelling mistakes within the 20,000 genes,” said Wittman, an assistant professor of obstetrics, gynecology and reproductive sciences at McGovern Medical School.
UTHealth Houston Fetal Center was fortunate to be part of a national research study involving multiple institutions and could offer Kendall this third level of testing. This multicenter study evaluated the impact of prenatal sequencing for fetuses with ultrasound abnormalities. Kendall’s amniotic fluid was also sent to another hospital out of state for further genetic studies.
This comprehensive and collaborative genetic testing provided a breakthrough, revealing Kendall’s baby had Bartter syndrome, which occurs in 1 in 1 million individuals. This kidney condition causes the baby to produce four times the normal amount of urine, which contributes to excessive amniotic fluid.
Further testing revealed Kendall’s baby had a double aortic arch. This is a rare heart condition causing the aorta to form a ring around the trachea and esophagus. This can potentially cause breathing difficulties.
A multidisciplinary approach
Papanna emphasized that cases like Kendall’s require a collaborative approach. Kendall’s multidisciplinary team comprised Jerrie S. Refuerzo, MD, a maternal-fetal medicine specialist at UT Physicians and the UTHealth Houston Fetal Center; Suzanne Lopez, MD, director of neonatal services at UTHealth Houston Fetal Center; and Rita D. Swinford, MD, a pediatric nephrologist with UT Physicians. All are faculty members with McGovern Medical School. Papanna said they openly exchanged their experience and knowledge to develop a plan with the best outcome for Kendall and her baby.
“We don’t rush and make any decisions that are undoable. We understand this is a one-time journey for the family, but this is what we do every day for every patient,” Papanna said.
Manageable difficulties
Riggs was born at 33 weeks, weighing 6 pounds, 7 ounces — a healthy size for early delivery. He spent five weeks in neonatal intensive care. At 2 weeks old, he developed an infection. This required emergency heart surgery to repair his double aortic arch.
Understanding Riggs’ conditions before birth allowed the medical team to prepare appropriately for his care after delivery, particularly regarding his hydration needs and medication choices. Kendall said this knowledge enabled the team to move quickly with a game plan for Riggs, one of the biggest aspects that saved his life.
A happy outcome
Today, Riggs is a spirited 2-year-old. While he still faces medical challenges, including a second surgery performed in January 2024, his Bartter syndrome is currently well-controlled.
“Riggs is wild and sweet,” Kendall said. “Although we’re still having a few health issues with him, it’s nothing compared to what it could have been.”
Kendall’s experience has made her an advocate for genetic testing during pregnancy. She encourages friends to do the same when they ask for her opinion.
“Do the testing,” she said. “I’m very grateful for all the science we have these days.”
Wittman underscored the importance of genetic testing in prenatal care.
“When we’re able to get as much information as possible, it’s helpful in the prenatal period to prepare the patient before they deliver,” Wittman said. “I feel lucky in my work to offer extensive testing and give people answers.”
Kendall developed a deep appreciation for the medical team, and Papanna specifically.
“If there were a Dr. Papanna in every field, I feel like everybody’s cases would go so much smoother,” Kendall said. “He was kind, very resourceful, and if he didn’t know, he found an answer.”
Kendall’s experience is a testament to modern maternal-fetal medicine and the importance of comprehensive prenatal care, particularly for high-risk pregnancies.
“We were extremely blessed,” Kendall said. “Genetic testing saved us.”
