About

N. Scott Adzick is a Professor of Surgery in the Department of Surgery at the University of Pennsylvania's Perelman School of Medicine. He is affiliated with the Children’s Hospital of Philadelphia. His educational background includes an A.B. in History and Science from Harvard College (1975), an M.D. from Harvard University (1979), and a Master of Medical Management from Carnegie Mellon University (2003). His professional focus is on pediatric surgery, with particular expertise in fetal surgery and prenatal repair of congenital conditions such as myelomeningocele. Dr. Adzick has contributed to the field through research and clinical practice, including conducting randomized trials on prenatal versus postnatal repair of myelomeningocele and exploring fetal surgery for various congenital anomalies.

Research topics

• Physical therapy
• Pediatrics
• Surgery
• Medicine
• Internal medicine
• Psychiatry

Selected publications

• Detailed analysis of cystic lesions in patients after open fetal repair and postnatal myelomeningocele closure

  Child s Nervous System · 2025-01-02

  articleOpen access

  PURPOSE: We sought to evaluate the incidence, natural history, and management of cystic spinal lesions following myelomeningocele/myeloschisis closure. METHODS: We performed a single-center retrospective review of all patients who underwent myelomeningocele/myeloschisis closure from 2013 to 2018 with follow-up to 5 years old. RESULTS: We analyzed 100 fetal repairs and 81 postnatal closures from 305 total surgeries. Patients within this cohort systematically underwent serial MRI scans of the lumbar spine and had clinical follow-up until at least 5 years of age. Ninety-three (51.2%) developed radiographic evidence of cystic lesions with 28 (30.1%) requiring surgical intervention. Presence of cysts was higher in fetal repair (67/100, 67%) compared with postnatal (26/81, 32.1%; p < 0.01). Of the 93 patients with radiographic cysts, 28 (30.1%) underwent surgical resection at a median age of 27.6 months old ([Q1, Q3], [13.0, 48.6 months]). Fetal repair patients had a higher rate (26/67, 38.8%) of cysts requiring surgical resection compared with postnatal closure (2/26, 7.7%, p value < 0.01). Pathology demonstrated 18 of resected cysts were dermoid, 8 were epidermoid, and 2 were fibrous tissue. Post-operatively, no patients experienced a worsened ambulation status. Bladder compliance showed a non-significant trend toward improvement. CONCLUSIONS: Cystic lesions in myelomeningocele/myeloschisis patients are common findings that result in nerve root tethering. We propose regular screening in both symptomatic and asymptomatic patients to circumvent nerve injury. Most cystic lesions do not require surgical resection though fetal repair is associated with a higher incidence of operative cysts. However, these lesions can be safely surgically resected with maintenance of ambulation and urologic function.

  PublisherOA PDFDOI

• In utero progression of cephaloceles: prenatal to postnatal analysis

  Journal of Neurosurgery Pediatrics · 2025-01-10

  article

  OBJECTIVE: The natural history of cephaloceles is not well understood. The goal of this study was to better understand the natural history of fetal cephaloceles from prenatal diagnosis to the postnatal period. METHODS: Between January 2013 and April 2023, all patients evaluated with a cephalocele at the Center for Fetal Diagnosis and Treatment were identified. All patients underwent prenatal and postnatal MRI. Demographic and imaging covariates were obtained from the electronic medical record. Volumetric analyses were performed to determine the percentage of neural tissue within the cephalocele. Progressive herniation was defined as an increase in cephalocele absolute neural tissue volume ≥ 5% or new herniation of an additional intracranial structure into the cephalocele. RESULTS: A total of 25 patients met the inclusion criteria. Of these patients, 6 (24%) exhibited progressive cephalocele herniation from the prenatal to postnatal MRI. The median sac volume was 2.2 mL (mean 6.2 mL, range 0.3-40.5 mL). The median change in brain volume in the patients with cephalocele progression was a decrease of 1.5% (mean -7.3%, range -36.4% to 3.1%). Cephalocele sac volume at the time of fetal imaging was predictive of progressive herniation, which persisted on multivariate analysis when controlling for gestational age, sex, and percentage of herniated neural tissue. While 44% of the patients had ventriculomegaly, 56% ultimately required permanent CSF diversion. CONCLUSIONS: Progressive neural herniation from the fetal to postnatal period is not commonly seen in fetal cephaloceles. Sac volume is associated with an increased risk of progressive herniation into the cephalocele.

  PublisherDOI

• Reproductive outcomes following open maternal–fetal surgery for myelomeningocele closure: analysis of MOMS trial participants

  American Journal of Obstetrics & Gynecology MFM · 2025-08-29

  articleOpen accessSenior author

  BACKGROUND: In utero closure of myelomeningocele has become an accepted alternative in the management of prenatally diagnosed spina bifida. Maternal reproductive risk has been previously described on the basis of registry data and institutional outcomes. Herein we aim to provide maternal reproductive outcomes from participants in the Management of Myelomeningocele Study. OBJECTIVE: Open maternal-fetal surgery for in utero closure of myelomeningocele is associated with childhood benefits through school age; however, obstetrical and maternal reproductive risks are also factors to consider. The objective of this analysis was to evaluate reproductive outcomes after open maternal-fetal surgery compared with standard postnatal myelomeningocele closure. STUDY DESIGN: The Management of Myelomeningocele Study was a randomized trial comparing prenatal vs postnatal closure of myelomeningocele. Women in the prenatal closure arm underwent open maternal-fetal surgery at 21 to 26 weeks of gestation and underwent cesarean delivery at 37 weeks if they were not delivered before that. In the postnatal closure arm, cesarean delivery was performed at 37 weeks and neonates underwent surgical closure soon after birth. Families returned for follow-up at 30 months and again at school age between 6 and 10 years. Maternal reproductive questionnaires were administered at the time of the follow-up visits to assess menstruation, fertility, gynecologic issues, and subsequent pregnancy outcomes. We compared continuous variables using the Wilcoxon test and categorical variables using the chi-square or Fisher exact test, as appropriate. RESULTS: A total of 174 randomized women (86 in the prenatal closure group and 88 in the postnatal closure group) completed reproductive questionnaires, with 91 women reporting no subsequent pregnancies since the Management of Myelomeningocele Study. In the prenatal closure group, 36 women reported 60 subsequent pregnancies, of which 45 (75%) progressed ≥20 weeks. In the postnatal closure group, 43 women reported 71 pregnancies, of which 50 (70%) progressed ≥20 weeks. The prenatal closure group was more likely to deliver at <37 weeks (P<.001). One uterine rupture (2.2%) and 2 uterine dehiscence cases (4.4%) were reported in the prenatal closure group; none were reported in the postnatal closure group (P<.001). The use of fertility treatments or gynecologic surgeries was not different between the groups. CONCLUSION: Preterm delivery was more common in subsequent pregnancies after open maternal-fetal surgery. The risk for uterine rupture and dehiscence was higher in the prenatal group than in the postnatal group, but lower than what has been previously reported with open maternal-fetal surgery. Reproductive outcomes were otherwise similar between women undergoing open maternal-fetal surgery for myelomeningocele closure and the postnatal closure group in the Management of Myelomeningocele Study. El resumen está disponible en Español al final del artículo.

  PublisherDOI

• pT1a papillary thyroid carcinomas in pediatric patients

  European Thyroid Journal · 2025-10-01

  articleOpen access

  Background: Observational studies in adults suggest that incidental PTC (iPTC) and non-incidental PTC (niPTC) are distinct entities. We examine the incidence of iPTC in pediatric patients undergoing thyroidectomy for benign conditions and compare clinical and histopathologic findings, and outcomes, of iPTC with those of niPTC. Methods: A retrospective chart review was conducted at the Children's Hospital of Philadelphia between August 2010 and February 2023 to identify pediatric patients who underwent thyroidectomy and were diagnosed with pT1a PTC. Results: iPTC was identified in 23 of 453 (5.1%) patients undergoing thyroidectomy for benign conditions. Within a cohort of 66 patients diagnosed with pT1a PTC, 23 (34.8%) were classified as iPTC and 43 (65.2%) were classified as niPTC. Compared to niPTC, iPTC had a significantly smaller median greatest dimension (iPTC: 3 mm, niPTC: 7 mm, P < 0.001), a lower rate of lymphatic invasion (iPTC: 0%, niPTC: 60.5%, P < 0.001), and AJCC N1 disease (iPTC: 0%, niPTC: 55.8%, P < 0.001). Most iPTC (22 out of 23 (95.7%)) were classified as ATA pediatric low-risk, while six out of 43 (14.0%) niPTC were categorized as intermediate/high-risk. Patients with iPTC and niPTC were followed for a median of 3.3 and 5.7 years, respectively. There was no evidence of persistent or recurrent disease in any patient with iPTC during this time frame. Conclusions: iPTC may be found in 5.1% of pediatric patients undergoing thyroidectomy for benign conditions. Similar to adults, iPTC in pediatric patients appears to be indolent with a minimal risk for invasive features and a low risk for persistent or recurrent disease. In contrast to iPTC, niPTC exhibits the potential for invasive behavior and should be regarded as a distinct entity.

  PublisherDOI

• Case Report: The importance of genetic counseling for families with hyperinsulinism

  Frontiers in Pediatrics · 2025-01-17 · 1 citations

  articleOpen access

  Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients. Understanding the genetic etiology also allows accurate genetic counseling to be provided, illustrated by two families following a diagnosis of HI. A newborn had hypoglycemia at birth and was diagnosed with focal HI due to a paternally inherited recessive ABCC8 variant. Years later the paternal half-sibling was diagnosed with HI. Testing revealed compound heterozygous ABCC8 variants, consistent with diffuse disease. Following testing, the father's partner(s) should have been offered carrier testing. However, the parents were unaware that future children could be at increased risk of HI. The second family's son was diagnosed with HI in infancy and genetic testing identified a heterozygous recessive ABCC8 variant. Parental testing revealed both parents carried this variant. Focal HI was subsequently confirmed. This family's 1/4 chance to have a child with diffuse HI was significantly higher than the 1/540 chance their child could have focal HI. Understanding the etiology of a patient's HI not only allows for appropriate medical management but has important reproductive implications for the family. Genetic counseling is an important component of the multidisciplinary care received by every family with HI.

  PublisherOA PDFDOI

• Golden hour management of infants with congenital diaphragmatic hernia: 15 year experience at a high-volume center

  Journal of Perinatology · 2025-02-21 · 7 citations

  articleOpen access

  OBJECTIVE: To review the evolution of golden hour management and outcomes for infants with congenital diaphragmatic hernia (CDH). STUDY DESIGN: Retrospective single center cohort study of infants with CDH born 2008-2023 at a quaternary children's hospital. Infants were grouped into 3 epochs: 2008-2013, 2014-2018, and 2019-2023. Outcome measures included extracorporeal membrane oxygenation therapy and survival. RESULT: There were 454 infants, including 106 (2008-2013), 156 (2014-2018), and 192 (2019-2023). Despite increased disease severity, survival improved over time, from 71% (2008-2013) to 82% (2014-2018) and 83% (2019-2023), p = 0.02 for trend, with no difference in ECMO utilization. CONCLUSION: Management of infants with CDH continues to evolve with ongoing experience at our high-volume center. Despite increasing severity of illness, survival outcomes have improved over time. In the absence of clinical trial data, observational data should be evaluated rigorously to inform care in a data-driven manner.

  PublisherOA PDFDOI

• Molecular Landscape and Therapeutic Strategies in Pediatric Differentiated Thyroid Carcinoma

  Endocrine Reviews · 2025-02-07 · 9 citations

  reviewOpen access

  There has been significant progress in understanding the molecular landscape of pediatric differentiated thyroid carcinoma (DTC) over the past 2 decades. Classification of pediatric DFC into 3 tiers, RAS-like mutant, BRAF mutant, and kinase fusions, accurately reflects an increasing risk for invasive behavior, including regional and distant metastasis. In clinical practice, somatic oncogene testing for nodules with indeterminate cytology per the Bethesda System for Reporting Thyroid Cytopathology provides objective data to optimize surgical planning. In addition, knowledge of the somatic oncogene for widely invasive carcinomas allows for incorporation of oncogene-specific inhibitory therapy both in the adjuvant and neoadjuvant setting. In the present review, we review the risk factors, clinical presentation, and evaluation of pediatric DTC, highlighting the correlation among ultrasound features, cytology, and oncogenic driver of the tumor. We subsequently propose an integrated, multimodal approach that can be used to improve diagnostic accuracy and reliability for preoperative planning as well as identify and discuss which pediatric patients may benefit from systemic oral targeted therapy.

  PublisherOA PDFDOI

• The clinical significance of lack of hindbrain herniation in fetal myelomeningocele/myeloschisis patients

  Journal of Neurosurgery Pediatrics · 2024-10-01 · 3 citations

  article

  OBJECTIVE: Hindbrain herniation (HH) is a clinical prerequisite for prenatal repair of myelomeningocele/myeloschisis; however, a subset of patients lack HH on initial fetal imaging and may ultimately progress to exhibit herniation on subsequent prenatal or postnatal imaging. The authors sought to explore the cohort of patients without HH at the time of initial fetal consultation for myelomeningocele/myeloschisis repair to define their clinical characteristics and outcome. METHODS: From July 2016 to July 2022, patients evaluated at the Children's Hospital of Philadelphia Center for Fetal Diagnosis and Treatment for myelomeningocele/myeloschisis were classified into two cohorts: those with and those without HH. The diagnosis of HH was obtained from prenatal and postnatal MRI. The osseous lesion level, prenatal sac volume, and prenatal ventricular size was obtained from fetal ultrasound. The fronto-occipital horn ratio was measured on the first postnatal ultrasound. Ambulation status was obtained from postnatal evaluation in the spina bifida clinic. RESULTS: A total of 176 patients with prenatal HH had postnatal follow-up, of whom 95 (54%) had HH resolution and 81 (46%) had herniation persistence. Of 73 patients without prenatal HH, 9 (12%) had herniation on subsequent prenatal imaging while 64 (88%) had no herniation on prenatal imaging. Of these 64 patients, 11 (17%) had postnatal HH, 32 (50%) had no postnatal herniation, and 21 (33%) were lost to follow-up or the pregnancy was terminated. For patients without HH throughout, the sac volume was larger (9 cm3) than those who had herniation progression or initial herniation; however, the rate of talipes was not significantly different among the groups. The majority of patients were also ambulators (with assistive devices or independent), and the atrial diameter was also < 10 mm for most patients. Overall, 53% of those with initial HH compared with 35% with progression of herniation required CSF diversion, while only 25% of those without herniation required diversion. CONCLUSIONS: This study demonstrates the natural history of HH in patients with a prenatal diagnosis of myelomeningocele/myeloschisis. The majority of patients without any herniation had larger sac sizes but not higher rates of talipes and smaller ventricles and were ambulatory. These findings improve the ability to guide families during prenatal consultation.

  PublisherDOI

• Low-invasive somatic oncogenes and lymph node metastasis in pediatric papillary thyroid cancer: implications for prophylactic central neck dissection

  European Thyroid Journal · 2024-07-10 · 5 citations

  articleOpen access

  Objective: The American Thyroid Association (ATA) Pediatric Guidelines recommend selective, prophylactic central neck dissection (pCND) for patients with papillary thyroid carcinoma (PTC) based on tumor focality, tumor size, and the surgeon's experience. With the expansion of pre-surgical somatic oncogene testing and continued controversy over the benefits of pCND, oncogenic alteration data may provide an opportunity to stratify pCND. This study compared lymph node (LN) involvement in pediatric patients with PTC between tumors with low- and high-invasive-associated alterations to explore the potential utility of preoperative oncogenic alterations in the stratification of pCND. Methods: This is retrospective cohort study of pediatric patients who underwent somatic oncogene testing post thyroidectomy for PTC between July 2003 and July 2022. Results: Of 192 eligible PTC patients with postoperative somatic oncogene data, 19 tumors harbored somatic alterations associated with low-invasive disease (19/192, 10%), and 128 tumors harbored a BRAFV600E alteration (45/192, 23%) or an oncogenic fusion (83/192, 43%). Tumors with low-invasive alterations were less likely to present malignant preoperative cytology (2/18, 11%) than those with high-invasive alterations (97/124, 78%; P < 0.001). Twelve patients with low-invasive alterations had LNs dissected from the central neck (12/19, 63%) compared to 127 patients (127/128, 99%) with high-invasive alterations. LN metastasis was identified in two patients with low-invasive alterations (2/19, 11%) compared to 107 patients with high-invasive alterations (107/128, 84%; P < 0.001). Conclusion: Pediatric patients with low-invasive somatic oncogenic alterations are at low risk for metastasis to central neck LNs. Our findings suggest that preoperative knowledge of somatic oncogene alterations provides objective data to stratify pediatric patients who may not benefit from pCND.

  PublisherDOI

• 275 Absence of Hindbrain Herniation in Myelomeningocele Myeloschisis: A Closer Look at Patients Who Progress to Hindbrain Herniation in the Prenatal and Postnatal Period

  Neurosurgery · 2024-03-15

  article

  INTRODUCTION: Prenatal repair is the gold standard for appropriate patients with fetal myelomeningocele/myeloschisis. Hindbrain herniation is a prerequisite for fetal repair; however, there is a subset of patients without herniation on initial imaging and then progress to herniation on subsequent prenatal/postnatal imaging. METHODS: From July 2016 to July 2022, patients seen at the Center of Fetal Diagnosis and Treatment for myelomeningocele/myeloschisis were evaluated for hindbrain herniation. The osseous lesion level was defined as the bony defect level on prenatal ultrasound. Prenatal sac volume was measured on MRI. Prenatal ventricular size was determined on US. The fronto-occipital horn ratio was measured on the first postnatal US. RESULTS: Of 422 patients identified with a prenatal diagnosis of myelomeningocele/myeloschisis, 73 were identified who initially had negative hindbrain herniation; of these, 9 and 11 patients progressed to herniation on subsequent prenatal and postnatal imaging, respectively; 32 remained without herniation throughout the prenatal/postnatal period. Sac volume was significant (p = 0.04) for those whose hindbrain herniation was detected on subsequent prenatal visits but not for those diagnosed in the postnatal period (p = 0.10). The majority of patients with hindbrain herniation progression had L1-2 lesions. A subset of patients ultimately underwent permanent CSF diversion (no herniation: 21.8%, prenatal herniation: 33.3%, postnatal herniation: 36.3%). CONCLUSIONS: Patients who initially exhibit no hindbrain herniation and then ultimately progress to herniation in subsequent prenatal or postnatal evaluation are more likely to have higher levels of osseous defect. Sac volume was determined as significant for delayed prenatal progression of hindbrain herniation. Further long-term outcomes are necessary to better characterize this unique cohort of patients.

  PublisherDOI

Recent grants

• NIH Grant U01HD068541

  NIH · $6.7M · 2018

• NIH Grant U10HD041666

  NIH · $6.0M · 2012

• NIH Grant R01HD025505

  NIH · $1.5M · 1998

Frequent coauthors

• Alan W. Flake

  Children's Hospital of Philadelphia

  432 shared

• Mark P. Johnson

  Rolls-Royce (United Kingdom)

  331 shared

• Holly L. Hedrick

  Children's Hospital of Philadelphia

  302 shared

• Lori J. Howell

  Children's Hospital of Philadelphia

  249 shared

• Timothy M. Crombleholme

  Connecticut Children's Medical Center

  217 shared

• Enrico Danzer

  Stanford University

  159 shared

• Michael R. Harrison

  University of California, San Francisco

  145 shared

• Leslie N. Sutton

  University of Pennsylvania

  133 shared

Education

• B.A., History and Science

  Harvard College

  1975

• M.D.

  Harvard University

  1979

• Other

  Carnegie Mellon University

  2003