Prospective detection of open spina bifida at 11-13 weeks by assessing intracranial translucency and posterior brain

R Chaoui1, B Benoit, K S Heling

  • 1Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany. chaoui@feindiagnostik.de

Insights

Early ultrasound screening can detect open spina bifida (OSB) by examining the fetal posterior brain during nuchal translucency (NT) measurement. This method aids in identifying OSB during routine 11-13-week prenatal scans.

Area of Science:

  • Prenatal Diagnosis
  • Fetal Medicine
  • Medical Imaging

Background:

  • Routine 11-13 week ultrasound is crucial for fetal anomaly screening.
  • Open spina bifida (OSB) is a severe neural tube defect.
  • Early detection of OSB improves prenatal management and outcomes.

Observation:

  • Six cases of open spina bifida (OSB) were identified in fetuses with crown-rump length 49-78 mm.
  • Suspicion of OSB arose during nuchal translucency (NT) measurement in the mid-sagittal plane.
  • Abnormal posterior brain structures, including obliterated or abnormal intracranial translucency (IT), were noted in all cases.

Findings:

  • An increased brainstem diameter to brainstem-occipital bone distance ratio (≥1) was observed in all six fetuses.
  • OSB was confirmed via targeted examination, with five cases detected in the same session.
  • Two fetuses presented with multiple anomalies and trisomy 18.

Implications:

  • The standard mid-sagittal plane used for NT measurement is feasible for assessing the posterior brain and detecting OSB.
  • This technique allows for early identification of OSB during routine first-trimester screening.
  • Integrating posterior brain assessment into NT screening can enhance prenatal detection rates for OSB.

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