Treating Genetic Conditions Before Birth

At Children’s Mercy in Kansas City, our teams are advancing care for certain genetic conditions by beginning treatment before a baby is born. This approach, known as in utero treatment, aims to support a child’s health as early as possible.

This year, the Elizabeth J. Ferrell Fetal Health Center cared for a baby diagnosed before birth with spinal muscular atrophy (SMA) Type 1, a genetic condition that causes muscle weakness beginning in infancy. Without treatment, children with SMA Type 1 may have difficulty sitting, walking or breathing on their own.

During pregnancy, the mother was treated with Risdiplam, a medication that helps improve muscle function. By starting treatment before birth, the care team was able to influence the baby’s early development. At delivery, the baby showed strong movement and a vigorous cry.

The team is also currently caring for a pregnancy affected by cystic fibrosis. During pregnancy, the mother is being treated with Trikafta, a medication that helps the body move salt and water more effectively. Early treatment may help reduce thick mucus buildup and support lung and digestive health from the start of life.

These early interventions represent continued progress in fetal care and reflect Children’s Mercy’s commitment to advancing treatment options and improving outcomes for families.

Prenatal Genetics Evaluation and Testing at the Fetal Health Center

Families may benefit from a prenatal genetics evaluation during pregnancy or while planning for pregnancy. Reasons why include a personal or family history of a genetic condition, having a child previously affected by a genetic disorder, higher‑risk results on prenatal screening, learning that both parents are carriers for the same condition or unexpected findings on ultrasound.

At Children’s Mercy’s Fetal Health Center, Lylach Haizler‑Cohen, MD, provides care for patients with complex prenatal needs. She is specially trained in both maternal‑fetal medicine and clinical genetics, allowing her to care for both mother and baby while helping families understand genetic information and testing options.

Services include detailed ultrasound evaluations, genetic risk assessment and counseling and diagnostic testing. Available procedures include chorionic villus sampling (CVS) and amniocentesis.

CVS is typically performed between 10 and 13 weeks of pregnancy and involves collecting a small sample of placental tissue. Because it is done earlier in pregnancy, CVS can provide genetic information sooner. Amniocentesis is usually performed after 15 weeks and involves collecting a small amount of amniotic fluid using a thin needle guided by ultrasound. Both tests provide important information to help families understand their baby’s health and make informed decisions.

For Professionals

Few maternal‑fetal medicine practices currently offer CVS. This early diagnostic test can be valuable in several situations, including higher‑risk noninvasive prenatal testing results, a prior child affected by a genetic condition or congenital anomalies identified on early ultrasound.

If you have a patient who may benefit from CVS, the best way to refer is to fax a referral to the Fetal Health Center at (816)302-9605. For urgent consults, providers may also call (816)855-1800 to confirm the fax was received.

Children’s Mercy performs both transabdominal and transcervical CVS. The evaluation includes genetic counseling by a certified genetic counselor, a detailed ultrasound assessment, the diagnostic procedure and follow-up ultrasounds as needed.

Three Children’s Mercy Kansas City disciplines — neonatology, fetal cardiology and maternal fetal medicine — are collaborating with hospitals across North America to answer an important question: How does delayed umbilical cord clamping impact the neurodevelopment of babies with congenital heart disease (CHD)? 

Research has established that delaying cord clamping for 30 to 45 seconds or longer benefits both preterm and full-term newborns. Delayed cord clamping can: 

• Preserve the baby’s red blood cells. 
• Reduce the need for transfusions. 
• Improve iron levels, which reduces the risk of anemia and boosts brain development. 
• Decrease the risk of necrotizing enterocolitis. 
• Decrease the risk of brain bleeds. 
• Improve neurological and developmental outcomes. 

Newborns with CHD have been excluded from previous cord-clamping studies because of their complex health variables, including how blood volume affects newborns with cardiac issues.  “The reason they were excluded before is the reason we need the study now,” explained Laura Vricella, MD, FACOG, Medical Director of the Elizabeth J. Ferrell Fetal Health Center. 

“The already established benefits of delayed cord clamping may certainly be favorable to newborns with CHD,” said Maria Kiaffas, MD, PhD, Director of Fetal Cardiology, who outlined some of the hypotheses the study will be able to test.

 “Newborns with certain types of CHD (i.e. cyanotic) do benefit from a robust amount of red blood cells, and the ones that will need surgery may need less transfusions when they start with a good hematocrit. In addition, the decreased risk of necrotizing enterocolitis, a common complication in newborns with CHD, can favorably affect their morbidity and length of hospitalization.” 

“These kids are known to be at higher risk for neurological developmental issues,” said John Daniel, MD, MS, Neonatal ECMO Director. “The brain may receive less oxygen as a fetus in certain CHD types, and then newborns live in a persistently hypoxic state. They often go on cardiopulmonary bypass to have their operations. There are a lot of risk factors.” 

The new multi-site study, “CORD-CHD: Cord clamping among neonates with Congenital Heart Disease,” is led by Carl H. Backes, Jr., MD, from Nationwide Children’s, with Dr. Kiaffas and Dr. Daniel serving as site Principal Investigators at Children’s Mercy. The study is funded through the National Institutes of Health’s National Heart, Lung and Blood Institute. 

The study randomizes participating families into two groups: One where cords are cut after a delay of 30 to 60 seconds and one where cords are cut between 60 and 180 seconds following delivery. Patients will have neurodevelopmental follow-ups at 3-4 months, 9-12 months, and 22 to 26 months of age. The study will recruit participants for five years and run until 2030. With a total sample-size goal of 600, Children’s Mercy is tasked with enrolling 5 to 10 families per year. 

“We’ve sailed past our recruitment goals,” said Cheri Gauldin, BSN, CCRC, Senior Research Nurse Coordinator, Children's Mercy Research Institute. The team started recruiting participants in February and has already enrolled 11 families and completed 10 deliveries — the most of any participating site so far. 

When the team identifies a potential candidate (around 40% of the center’s deliveries have some form of CHD), they explain the study to the family at an interdisciplinary care meeting. Most families have been familiar with delayed cord clamping, either from previous births or by talking to their obstetricians, and have been eager to participate. 

“The Fetal Health Center has done an amazing job,” said Cheri. “They are being very proactive with helping us make sure everybody knows who’s enrolled.”  With the cooperation of today’s Fetal Health Center families, the innovative study will ensure future patients get the best evidence-based care possible. 

“This study wouldn’t be possible without the center,” agreed Dr. Daniel. “As our center continues to grow, we wanted to introduce research that bridges the gap between neonatology and maternal fetal medicine. This is a truly multidisciplinary study, and our Fetal Health Center is uniquely positioned to offer it to families.” 

Learn more about our Heart Center, Neonatology and Fetal Health Center at childrensmercy.org.

 

Laura K.P. Vricella, MD, FACOG, has arrived at Children’s Mercy to guide the next phase in the development of the Elizabeth J. Ferrell Fetal Health Center (FHC). 

Dr. Vricella, Director-Fetal Health Center and Maternal-Fetal Medicine Chair, assumed her new role in late January, and she describes her first impressions of CM as “fantastic.” 

“This is such a special place,” she said. “The whole reason I wanted to come here is because Children’s Mercy has a really special culture. It’s mission-driven, very much about the patients, and everyone has a lot of pride in that. 

“There’s nothing like coming to work every day and it not feeling like work, because you’re clear on your purpose. That’s something that really touched me from the beginning and something I want to be a part of and help to lead the next phase.” 

Dr. Vricella comes to CM from the St. Louis Fetal Care Institute. Although she lived and worked on the other side of Missouri, she was familiar with CM and the FHC. 

“Children’s Mercy has a reputation in pediatrics that goes well beyond the boundaries of the city,” she said. “It’s a highly respected as a pediatric center of excellence.” 

Listening 

One of Dr. Vricella’s first priorities is to learn the operations of the FHC by engaging the team. 

“I think the most important thing in starting a position where the goals are great and the expectations are high is making sure I understand where everyone has been and the experiences of everyone who has been working very hard to make this program what it is today,” she said. “So, I’ll be doing a lot of listening. 

“I love fetal care. It is my clinical passion,” she added. “I envision myself being very hands-on in the Fetal Health Center, to understand its functioning, so I can be the most supportive leader possible. You have to understand the way the center works from the inside out in order to lead it effectively.” 

Attraction to medicine 

When asked what led her to a career in medicine, Dr. Vricella said, “I have always wanted to feel like every day I was doing something that has a positive, significant impact on people’s lives. That’s what initially drew me into medicine and what ultimately led me into women’s health.” 

Before Dr. Vricella embarked on her medical career, she spent a year in Senegal, Africa, working with pregnant women. 

“I saw the great needs that people had for good health care and how much women’s health directly pertained to their economic and social wellbeing,” she said. “It was very impactful for me. Reproductive health is so important on the rest of their lives. That is what ultimately pushed me to pursue medicine, because I wanted tangible skills to improve people’s lives.” 

Helping

The desire to help has carried through to this point in Dr. Vricella’s professional journey. 

“Those of us who get into the field want to help people on the best and worst days of their lives,” she said. “When someone gets a really serious fetal diagnosis, it’s the worst day of their life; it’s life-altering. For us, getting that right and making sure we give them the information in as clear a way as possible —while also supporting them emotionally and psychologically as they go through this process of understanding and adjusting – there’s nothing like it.” 

“Very rewarding,” agreed Timothy Bennett, MD, FACOG, Dr. Vricella’s predecessor, who came to CM in 2009 after 16 years at KU and helped design the physical and operational aspects of the FHC, which opened in 2010. 

In fact, the aspect of helping families that have been told their baby has significant developmental differences has made his tenure at the FHC a learning experience. 

“I’ve learned so much about the care of patients,” Dr. Bennett said. “One of the things we’re proud of is we say, ‘We’re going to help you.’ It’s as simple as that. What I’ve learned is that we have a lot of babies who have success, but we also have a substantial number who we know are not going to do well. There’s a huge opportunity there for health care.” 

Dr. Bennett added, “There aren’t promises here. I wish there could be. But what we can say is, ‘We’re going to help you every step of the way. There’s a caring you can provide. We don’t take the approach of ‘There’s nothing we can do.’ We take the approach that, ‘Your baby is cared for exactly the way any other baby is cared for. We care the same amount, whether your baby has terrible problems or minor problems.” 
 

Highlights 

Under Dr. Bennett’s leadership, the FHC has many highlights, including more than 2,000 deliveries; expansion from four to nine inpatient beds; and the Ferrell family’s establishment of the Dr. Timothy Bennett Endowed Chair in Fetal Health Surgery. But as highlights go, Dr. Bennett said it’s hard to beat the first planned delivery in the history of CM – Maddox Hodges on March 10, 2011. 

“I’m very proud of the team in terms of the clinical service we provide,” Dr. Bennett said. “The mission of the center initially was to provide a place where when fetal abnormalities were identified by other physicians, they had a place to refer; where we could help them confirm the diagnosis, assist in the management of the patient, and in many of the cases, provide a place for them to deliver their baby and provide immediate care. That’s exactly what we did, and what we do.” 

What’s next?

Drs. Vricella and Bennett said enhanced research and recruitment of a fetal surgeon are among the goals of the FHC. 

“In order to be a truly multi-dimensional fetal center, you’re going to have to have the interventional piece, a fetal surgeon, if you will, where you can do the more advanced things,” Dr. Bennett said. 

Dr. Vricella said, “It’s clear that being the premiere fetal surgery program in the Midwest is a foundational priority of the institution. This community deserves someone who is not only a skilled surgeon, but whose personality and values are aligned with those of the institution … which is a mentality of teamwork and collaboration, to give the mother and baby the best possible outcome.” 

Advice to the successor 

What advice will Dr. Bennett give to Dr. Vricella as he winds down his time at CM? 

“My advice is, use your own good instincts,” Dr. Bennett said. “I’m very confident in Dr. Vricella. I know her and I know she is extremely qualified and just a good physician. Bring your own ideas forward. Give this a fresh look because we need a fresh look; we don’t want to stay where we are.” 

Legacy 

For her part, Dr. Vricella said she is inheriting an organization with a “rock solid” foundation. 

“I think Dr. Bennett’s legacy is the fact that now, in this region, if you tell a mom that her baby is going to need significant help, she wants to deliver at Children’s Mercy.” 

Dr. Bennett replied, “It was not just me; there were a lot of other people involved. This has been a great opportunity for me, and I couldn’t ask for a better way to end my career.”