Category: Genetics
Poster Session IV
We searched PubMed, Scopus, Web of Science systematically from inception until February 2022. Inclusion criteria were: minimum of 3 cases, initiation of testing was based upon prenatal phenotype only and with negative CMA, and cases in which the lateral ventricle (LV)≥15 mm and hydrocephalus was the primary brain pathology. Cases in which hydrocephalus was a secondary result of pathologies like dandy-walker malformation, neural tube defects, or holoprosencephaly were not included. The incremental diagnostic yield of ES was assessed for pathogenic/likely pathogenic in: (1) all cases of hydrocephalus; (2) isolated hydrocephalus which was further subdivided into: 2(a) single isolated (hydrocephalus was the only brain finding), and 2(b) multiple isolated (hydrocephalus and other brain anomalies except for the above mentioned ); and (3) hydrocephalus associated with extracerebral anomaly (non-isolated). The random-effect model was used to pool the risk difference (RD) and the corresponding 95% confidence intervals.
Results:
29 studies encompassing 160 severe ventriculomegaly or hydrocephalus cases were included. Pooled incremental yields were: all hydrocephalus cases 42% (95% CI 30-53%), isolated hydrocephalus 42% (95% CI 28-55%), isolated single 18% (95% CI 5-30%), isolated multiple 53% (95% CI 36-71%), and non-isolated hydrocephalus 46% (95% CI 34-58%). All were statistically significant P< 0.01. The results did not differ significantly when sub-analysis was limited to studies including more than 10 cases.
Conclusion: There is a significant incremental yield of prenatal ES over negative CMA in primary hydrocephalus. While the greatest yield is isolated multiple and non-isolated, consideration should also be given to performing ES in the presence of an isolated single cases.
Hiba J. Mustafa, MD
Assistant Professor of Fetal Surgery and Maternal-Fetal Medicine
Indiana University Riley Children's Hospital Fetal Center
Carmel, Indiana, United States
Enaja Sambatur, MD
Indiana University
Indianapolis, Indiana, United States
Mohammad-Hossein Heydari, N/A
Non-Communicable Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences
Tehran, Tehran, Iran
Yuval Yaron, MD
Professor of Obstetrics & Gynecology, Director Prenatal Genetic Diagnosis
Tel Aviv University
Tel Aviv, Israel, Israel
Caitlin Baptiste, MD
MFM Fellow
Columbia University Irving Medical Center
New York, New York, United States
Asma Khalil, MD, MSc (she/her/hers)
Professor of Maternal Fetal Medicine
St George's Hospital, University of London
London, England, United Kingdom
Ronald Wapner
Huda B. Al-Kouatly, MD
Thomas Jefferson University
Philadelphia, Pennsylvania, United States