Poster Session 3
Category: Ultrasound/Imaging
Poster Session 3
Hiba J. Mustafa, MD (she/her/hers)
Director of Fetal Surgery, Director of Placenta Accreta Spectrum Program
Indiana University School of Medicine, Riley Children's Hospital
Indianapolis, Indiana, United States
Işıl Ayhan, MD
Division of Maternal-Fetal Medicine, Antalya City Hospital
Antalya, Antalya, Turkey
Faezeh Aghajani, MD
Postdoctoral Research Fellow
Boston Children's Hospital
Boston, Massachusetts, United States
Ella Boardley
Indiana University School of Medicine
Indiana University School of Medicine, Indiana, United States
.jpg "Alireza A. Shamshirsaz, MD (he/him/his) photo")
Alireza A. Shamshirsaz, MD (he/him/his)
Department Director, Professor of Surgery
Boston Children's Hospital, Harvard Medical School
Boston, Massachusetts, United States
Asma Khalil, FRCOG, MD
Fetal Medicine Unit, St George's University Hospitals NHS Foundation Trust
LONDON, England, United Kingdom
To systematically review and analyze the natural history and outcomes of prenatally diagnosed cephaloceles.
PubMed, Cochrane, Scopus, and Web of Science were searched systematically from inception until March 2025. The primary outcome was survival, and secondary included cephalocele-related morbidity.
Thirty-one studies comprising 340 prenatally diagnosed cephaloceles were included in the review. Studies reporting fewer than 3 cases were excluded from the meta-analysis part. Pregnancy outcomes were as follows: termination in 36.5% (124/340), intrauterine fetal demise in 4.4% (15/340), and live birth in 47.9% (163/340). Meta-analysis was conducted on 323 cases. The mean gestational age at diagnosis was 18.4 weeks, indicating most cases were detected in the second trimester. The majority of cephaloceles were occipital (89.3%), with few located in the parietal (3.5%), frontal (3.9%), or other regions. Most lesions were encephaloceles (95.9%), with meningoceles comprising only 4.1%. Genetic testing was performed in 96.2% of cases, revealing abnormalities in 7.8%. Associated structural anomalies were present in 24.4% of fetuses. Among liveborn infants, 96.7% survived until surgery, and 95.3% underwent surgical repair. Postnatal mortality was reported in 7.8% of cases. Neurodevelopmental impairment occurred in 44.5% of children (Figure 1), while 22.8% developed hydrocephalus requiring ventriculoperitoneal shunting. Epilepsy was observed in 9.2% of cases. 93.3% of the liveborn infants demonstrated some level of ambulation. Only 18 cases from two studies underwent fetal surgery.
Prenatally diagnosed cephaloceles are associated with frequent pregnancy termination and significant morbidity among survivors. While postnatal surgical repair is feasible for most liveborn and ambulatory potential is high, nearly half experience neurodevelopmental impairment, and many require further interventions such as ventriculoperitoneal shunting. Preliminary data on fetal surgery are promising but limited by small sample sizes. Further research is needed to guide counseling and management.