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First trimester supratentorial and infratentorial abnormalities in fetuses with open spina bifida

Joann Acuna1, Gregory Lau1, Steven Rad1

  • 1Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center, Los Angeles, CA, USA.

The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
|August 24, 2019
PubMed

Insights

First-trimester fetuses with open spina bifida (OSB) show early signs of Chiari-II malformation. These include changes in the brainstem and skull, detectable through specific measurements.

Area of Science:

  • Fetal Medicine
  • Neurodevelopmental Pediatrics
  • Medical Imaging Analysis

Background:

  • Open spina bifida (OSB) is a severe congenital condition often associated with Chiari-II malformation.
  • Early detection of OSB-related malformations is crucial for timely intervention and management.
  • The presence and extent of Chiari-II malformation in the first trimester require further investigation.

Purpose of the Study:

  • To investigate the presence of supratentorial, infratentorial, and calvarial abnormalities in first-trimester fetuses diagnosed with OSB.
  • To assess specific fetal biometric parameters for early detection of OSB and associated malformations.

Main Methods:

  • Retrospective analysis of midsagittal facial images from 500 normal and 10 OSB fetuses (110-136 weeks gestation).
  • Measurement of supratentorial (midbrain curvature, thalamic height), infratentorial (fourth ventricle diameter, brain-stem diameter [BSD], BSD/BSOB ratio), and calvarial (FMF angle) parameters by blinded examiners.
  • Statistical comparison of parameters between OSB and normal fetuses to determine diagnostic accuracy.

Main Results:

  • OSB fetuses exhibited significantly larger midbrain curvature, smaller frontomaxillary facial (FMF) angle, smaller fourth ventricle diameter, smaller BSD, and increased BSD/BSOB ratio compared to controls.
  • Thalamic height did not show significant alteration between groups.
  • Highest detection rates for OSB at 95% specificity were observed for fourth ventricle diameter (60%) and FMF angle (40%). Combining fourth ventricle diameter and FMF angle achieved 90% sensitivity and 90.7% specificity.

Conclusions:

  • Supratentorial, infratentorial, and calvarial changes indicative of Chiari-II malformation are established in first-trimester fetuses with OSB.
  • Specific biometric measurements in early pregnancy can aid in the detection of OSB and associated central nervous system malformations.
Abstract

Keywords:
First-trimesterinfratentorialprenatal diagnosisspina bifidasupratentorial

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