Open neural tube defects are congenital malformations associated with significant morbidity. Early detection during the first trimester remains a key challenge.
This retrospective monocentric study aims to evaluate the diagnostic performance of fetal biometrics (biparietal diameter and abdominal transverse diameter ratios) and maternal serum markers (beta-hCG and PAPP-A) for early screening of open neural tube defects. The study will assess the predictive value of these parameters individually and in combination to define optimal screening thresholds applicable in routine clinical practice
Adult pregnant woman (≥18 years)
First-trimester ultrasound performed at Strasbourg University Hospitals between 01/01/2011 and 31/12/2023
No written opposition to reuse of medical data for research purposes
Written opposition to reuse of medical data for research purposes
Multiple pregnancy
Presence of fetal growth abnormality, morphological or genetic anomaly during pregnancy
Crown-rump length <45 mm or >84 mm at screening ultrasound
Pregnant women undergoing routine first-trimester ultrasound screening at Strasbourg University Hospitals, including both normal pregnancies and those complicated by open neural tube defects.
Case-only
Retrospective
Not listed
Diagnostic performance of biometric ratios and serum markers
Determination of optimal thresholds for BPD/TAD and BPD/PA ratios and maternal serum markers (beta-hCG and PAPP-A) for screening of open neural tube defects, by comparing their diagnostic performance alone and in combination using ROC analysis.
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