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Fetal Diagn Ther. 2021 Feb 03;1-7. doi: 10.1159/000512487. Epub 2021 Feb 03.

Screening for Open Spina Bifida in a Routine Clinical Setting at the First-Trimester Scan: A Prospective Multicentre Cohort Study.

Fetal diagnosis and therapy

Johanna Tiechl, Samira Abdel Azim, Katharina Leitner, Astrid Berger, Irene Mutz-Dehbalaie, Georg Goebel, Matthias Scheier

Affiliations

  1. Department of Obstetrics and Gynaecology, Medical University of Innsbruck, Innsbruck, Austria.
  2. Department of Obstetrics and Gynaecology, Medical University of Innsbruck, Innsbruck, Austria, [email protected].
  3. Department of Medical Statistics, Medical University of Innsbruck, Innsbruck, Austria.
  4. Ambulatorium für Fetalmedizin, Feldkirch, Austria.

PMID: 33535205 DOI: 10.1159/000512487

Abstract

OBJECTIVE: The aim of this study was to investigate the performance of screening for open spina bifida (OSB) integrated into the routine first-trimester screening.

METHOD: This is a prospective multicentre study of 4,755 women undergoing first-trimester ultrasound scans over a 4-year period. Measurements of the brainstem (BS) diameter and brainstem-to-occipital-bone (BSOB) distance were performed. The cisterna magna (CM) was measured in the tilted axial view.

RESULTS: Pregnancy outcome data were available for 4,658 fetuses included in this study. There were 5 fetuses with OSB, and in all of them, the BS/BSOB ratio and the CM measurements were abnormal. The sensitivity and specificity of a BS/BSOB ratio >1 were 100%. The sensitivity of a CM width <5th centile was 100%, and the specificity was 95.1%. In 4.6% of cases, the BS/BSOB ratio was between the 95th percentile and 1. In 87.1% of these cases, the CM was normal, and 12.9% had a CM below the 5th percentile.

CONCLUSION: Screening for OSB is feasible in routine first-trimester scans. The BS/BSOB ratio shows a very good sensitivity and specificity. In cases with near-normal values for the BS/BSOB ratio, the CM width might be helpful for further assessment.

© 2021 S. Karger AG, Basel.

Keywords: 11–13 weeks’ scan; Brainstem/brainstem-to-occipital-bone ratio; Cisterna magna; First-trimester screening; Open spina bifida

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