For 25 years, CHOP’s Center for Fetal Diagnosis and Treatment has worked tirelessly to advance the field of fetal medicine and offer lifesaving care for pregnancies diagnosed with birth defects. Here, we reflect on the past and think ahead to what the future holds.
Madison is a bright young adult studying to become a doctor. It’s hard to imagine that before she was born, she was diagnosed with a birth defect and given just a 60% chance of survival. She is one of many individuals whose lives were transformed because of the care they received before and after birth at the Center for Fetal Diagnosis and Treatment (CFDT) at Children’s Hospital of Philadelphia (CHOP).
This year marks the 25th anniversary of the Center, the largest and most comprehensive program of its kind in the world. Over that time, more than 27,000 expectant families from all 50 states and more than 70 countries have done what Madison’s family did and turned to the CFDT’s expert team for hope and help.
Making ‘science fiction’ a reality
“In the beginning, there was a huge amount of skepticism about the idea of treating birth defects while a baby was still in its mother’s womb,” says Center co-founder, fetal surgery pioneer, and CHOP Surgeon-in-Chief, N. Scott Adzick, MD, MMM. “When we spoke about it at medical conferences, few people in the audience took the idea seriously, and some people thought we were crazy. But we weren’t.”
Adzick and Center co-founder and Executive Director, Lori J. Howell, DNP, MS, RN, were trailblazers of the field of fetal medicine. Together, through three decades of hard work, dedication and innovation, they and the CFDT’s multidisciplinary team have improved the lives of children with birth defects across the world. Thanks to their efforts, tumors can be removed, defects repaired, and conditions that threaten twins corrected, all while children are still inside their mother’s womb. Doing so can minimize — and in some cases, even prevent — the damage caused by the birth defect.
Today, the CFDT’s team has grown exponentially. Under the continued leadership of Adzick and Howell, as well as Julie S. Moldenhauer, MD, the Center’s Director of Obstetrics, the CFDT has the most experienced fetal diagnosis and treatment team in the world. The skilled team has trained the next generation of fetal medicine clinicians, including fetal surgeons, maternal-fetal medicine specialists, and fetal experts in radiology, anesthesia, neonatology, pediatric/surgical subspecialties and long-term care, through several elite fellowship programs.
The CFDT was instrumental in establishing the fetal therapy coordinator as a vital component of the fetal care team. The fetal therapy coordinator is the first point of contact for families and guides them through every step of care, scheduling their initial visit to the Center and all follow-up appointments, and working with colleagues to ensure continuity of care after birth. Today, the CFDT has seven fetal therapy coordinators, led by Susan S. Spinner, MSN, RN. Another key differentiator for the Center is its robust psychosocial support, with a team that includes social workers and psychologists who offer coping resources for the whole family. This commitment to providing families the best possible experience recently earned the CFDT, and its Garbose Family Special Delivery Unit, special recognition by Press Ganey, a company that measures patient satisfaction.
The CFDT has had countless milestones since it opened in 1995. Here are a few highlights:
- Since 1995, the Center for Fetal Research — the basic and translation research arm of the CFDT — has pushed the boundaries of what is possible in an effort to offer hope to more children affected by congenital conditions. Alan Flake, MD, Director of the Center for Fetal Research, Co-director William H. Peranteau, MD, and fetal surgeon Emily Partridge, MD, PhD, are leading cutting-edge discoveries in gene therapy, gene editing, tissue engineering, minimally invasive treatment approaches, and the creation of a womb-like device to support extremely premature infants. Researchers in the Center for Fetal Research are also working to address complex conditions like congenital diaphragmatic hernia with novel prenatal and postnatal therapies and delineate new pathways that may be helpful in treatment.
- In 1995, Felicia and Roberto Rodriguez traveled from their home in Florida to the newly opened CFDT, at the time one of only two programs worldwide capable of treating birth defects in utero. Dr. Adzick and his team performed the first-ever fetal surgery at CHOP to treat their son Roberto Jr.'s lung lesion. Roberto was born completely healthy, was a star baseball player growing up, and is now an active young adult making his way in the world. Today, the Center has performed nearly 2,000 fetal surgeries and is the undisputed world leader in fetal surgery.
- The CFDT held its first Fetal Family Reunion in 1997, and the event has been an annual occurrence since. Typically held on CHOP’s campus, the event provides an opportunity for those treated in the Center to reconnect with the clinical team that cared for them and other families who share an indescribable bond. For many, the yearly event is an opportunity to celebrate their child’s breakthroughs and reflect on how far they’ve come. The reunion has grown from a handful of attendees its first year to nearly 500 families and is a symbol of how many lives the CFDT has impacted.
- The Center has been at the forefront of prenatal imaging techniques since its inception, including developing and utilizing fetal MRI to diagnose birth defects since 1997. Fetal MRI examinations complement detailed prenatal ultrasound to provide the most accurate picture of the fetal central nervous system. In complex thoracic and abdominal anomalies, fetal MRI can provide complementary or additional information which can assist in patient consultation with confidence. Such a thorough evaluation allows our team to better discuss how an abnormality will affect the pregnancy as well as the child’s future prognosis. Over the years, the Center has been an international leader in the publication of imaging research. In 2002, the Center published retrospective and prospective data on the congenital cystic adenomatoid malformation (CCAM) volume ratio, a formula devised by Beverly G. Coleman, MD, to prenatally assess lung tumor growth. This formula is still in use today at CHOP and fetal centers worldwide. In 2008, after decades of being an integral part of our team, Dr. Coleman was named Director of Fetal Imaging. Today, she oversees a robust team of specialized fetal radiologists and sonographers, all focused on accurate prenatal diagnoses for some of the rarest conditions.
- In 1998, Adzick and Howell recruited Mark P. Johnson, MD, MS, as the Center’s first Director of Obstetrics, a role currently held by Julie S. Moldenhauer, MD. This was one of the first steps in eventually opening the Garbose Family Special Delivery Unit (SDU), the first comprehensive birth facility in a freestanding pediatric hospital designed specifically for healthy mothers carrying babies with birth defects. The SDU has revolutionized the birth experience for families by keeping mother, baby and family in one space for labor, birth and the postpartum experience. More than 4,500 deliveries have taken place in the unit since it opened in 2008, and the obstetrical team has grown to include five maternal-fetal medicine specialists as well as obstetricians, nurse midwives, labor and delivery nurses, and others. Dr. Moldenhauer recently helped publish guidelines on fetal therapy during the COVID-19 pandemic.
- In 2001, the CFDT partnered with CHOP’s Cardiac Center to launch the Fetal Heart Program (FHP) led by Jack Rychik, MD. The FHP is one of very few cardiac programs to offer early fetal cardiovascular imaging (EFCI), which allows the team to diagnose heart problems as early as 12 weeks’ gestation. Careful and continuous fetal echocardiographic monitoring is a standard practice for all fetuses undergoing surgery at CHOP in order to achieve the best outcomes. Each year, the program performs more than 3,700 fetal echocardiograms, making it one of the largest and most experienced programs of its kind. The FHP is also one of the first programs in the world to provide maternal hyperoxygenation testing in its fetal echocardiography imaging suite.
- In 2004, Holly L. Hedrick, MD, launched CHOP’s Pulmonary Hypoplasia Program to provide long-term multidisciplinary care to children with conditions that limit lung growth resulting in pulmonary hypoplasia. Since its inception, this program has published more than 100 peer-reviewed papers about the long-term effects of congenital diaphragmatic hernia (CDH), omphalocele and other birth defects. Dr. Hedrick specializes in treating babies born with CDH and leads CHOP’s CDH Program, a global leader in CDH medical research and clinical practice. The program was recently designated as one of the hospital’s Frontier Programs, a trailblazing group of initiatives pioneering new advances in children’s health. Dr. Hedrick and her team offer an innovative, minimally invasive fetal treatment to help the lungs grow in babies born with the most severe CDH, and they lead the way in neurodevelopmental research related to CDH.
- Also in 2004, CHOP created the world’s first Neonatal Surgical Team. This unique team stemmed from CHOP’s neonatal surgical advanced practice nursing (APN) team, created in 1995 by Howell. Over the years, this multidisciplinary team — co-led by neonatologist Natalie Rintoul, MD, and fetal and pediatric surgeon Holly L. Hedrick, MD — has trained numerous surgeons, neonatologists and nurses from all over the world in the detailed care required for challenging and complex surgical neonates. On a daily basis, the team cares for 30 to 40 babies whose conditions require surgery.
- The Center’s team developed many of the surgical techniques used to treat conditions, including myelomeningocele (MMC), the most severe form of spina bifida, before birth. The CFDT also led the Management of Myelomeningocele Study (MOMS), a groundbreaking study published in 2011 that proved that fetal repair of MMC can improve a child’s chances of being able to walk independently and reduce their chances of needing a shunt tube to drain fluid from the brain. The Center has also been an active participant in numerous other multi-institutional trials, most recently the Fetoscopic Endoluminal Tracheal Occlusion (FETO) Trial and the Renal Anhydramnios Fetal Therapy (RAFT).
- The unique needs of fetal surgery must be complemented with innovative anesthetic techniques. Since the beginning, the department of Anesthesiology at CHOP has been closely involved in caring for the patients of the CFDT by integrating principles of both obstetric and neonatal care into the novel discipline of fetal anesthesia. This team ensures the safety and comfort of two patients simultaneously during these groundbreaking procedures. In 2007, Kha Tran, MD, who completed subspecialty training in both pediatric and obstetric anesthesia, was named Clinical Director of CHOP’s Fetal Anesthesia Team. Since then, the team has grown from six anesthesiologists to a team of 15 who provide care for the spectrum of needs for all the patients in the SDU. Members of the team have contributed original research, review articles and numerous book chapters to the scientific literature, and continue to work hand in hand with all the members of the care team to advance knowledge in the field.
- In 2012, the Center formalized its psychosocial team with Joanna C. M. Cole, PhD, at the helm. Cole’s team — which consists of social workers, psychologists, psychiatrists, child life specialists and a chaplain — helps patients and their families cope with the emotional hardship of a fetal diagnosis. This team also leads the Perinatal Palliative Care and Bereavement Program, which offers specialized support for families who learn their baby is at high risk of dying either before or shortly after birth.
- In 2015, a gripping, three-part documentary series called “TWICE BORN: Stories from the Special Delivery Unit,” aired on PBS, offering the first-ever look inside the Center. The documentary followed four families and their medical teams over the course of two years. All three episodes are available on Amazon. On Sept. 21, 2016, at the 37th Annual News and Documentary Emmy® Awards, the National Academy of Television Arts & Sciences awarded PBS with an OUTSTANDING SCIENCE AND TECHNOLOGY PROGRAMMING Emmy for Twice Born.
- In 2014, the Center for Birth Defects Outcomes (CBDO) was launched to support reporting real-time clinical outcomes for patients treated in the CFDT. This information is critical to guide family counseling, adapt and improve care for future patients and their families, and support decision-making for patients, their physicians and insurance companies deciding among competing care options. Using an innovative software platform launched by CHOP in 2020, the CBDO efficiently acquires and validates data on clinical outcomes across the spectrum of prenatally diagnosed conditions treated at the CFDT for real-time use by the clinical team. The CBDO compliments the Center’s already robust clinical research team, building on decades of birth defects research.
- The cause of most birth defects is unknown because large studies have been lacking. Seeing the CFDT as a unique resource that offers the opportunity to enroll a large population of mothers carrying a fetus with a birth defect, the Center launched the Birth Defects Biorepository (BDB) in 2019. The BDB is a coordinated effort that harnesses the expertise of the Center’s genetic counselors to gather and analyze genetic information from mother, father and baby to unravel the mysteries of birth defects. “Better understanding of the interrelation of mother and baby can improve the outcome for both,” says Julie S. Moldenhauer, MD, Obstetrical Director, who says the BDB will be instrumental in improving prenatal management and outcomes after fetal surgery, and determining how fetal conditions and their treatment place mothers at increased risk for complications.
As the largest fetal care center in the world and a pioneer in fetal research, the Center for Fetal Diagnosis and Treatment has advanced the field in unbelievable ways over the past 25 years. Visionary support from CHOP’s Board of Visitors and individual philanthropists kickstarted each and every aformentioned advance made by the Center’s team, and each member of the team has dedicated their entire career to advancing the field of fetal medicine — and improving outcomes for children. On the horizon are innovations that promise to transform the next 25 years of fetal care and improve the lives of more bright young lights like Madison.