ArticleBMC medical imaging2026
Novel markers on microvascular flow imaging for identifying holoprosencephaly.
Article in BMC medical imaging, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectivesTo establish gestational age-specific reference ranges for two new indices, the forehead-anterior cerebral artery angle (FACAA) and forehead-anterior cerebral artery distance (FACAD), and to objectively evaluate their diagnostic effectiveness, measured using Doppler technology with microvascular flow imaging, for identifying holoprosencephaly, even the semilobar and lobar types, in early pregnancy.
methodsWe evaluated FACAA and FACAD in 462 normal fetuses between 12 and 34 gestational weeks (GW) to generate normative reference ranges. Additionally, we evaluated these two indices in 41 fetuses with holoprosencephaly and 34 fetuses with similar two-dimensional ultrasound features (the study group), including 20 fetuses with agenesis of the corpus callosum and 14 with isolated absent septum pellucidum/septo-optic dysplasia.
resultsIn the normal group, FACAA was almost stable throughout pregnancy, whereas FACAD increased with GW. All fetuses with holoprosencephaly had both smaller FACAA (13.99-38.00°, ≤5th percentile) and shorter FACAD (1.6-10.5 mm, ≤5th percentile). The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and negative likelihood ratio (LR-) of FACAA for the prediction of holoprosencephaly in fetuses with an intracranial malformation were 100% (95% confidence interval [CI]: 89.3-100.0%), 100% (95% CI: 87.4-100.0%), 100% (95% CI: 89.3-100%), 97.1% (95% CI: 82.9-99.8%), and 0, respectively. The sensitivity, specificity, PPV, NPV, and LR- of FACAD for the prediction of holoprosencephaly in fetuses with an intracranial malformation were 97.6% (95% CI: 85.9-99.9%), 100% (95% CI: 87.0-100.0%), 100% (95% CI: 89.3-100%), 97.1% (95% CI: 82.9-99.8%), and 0.02 (95% CI: 0.003-0.165), respectively.
conclusionFACAA and FACAD are sensitive, easy-to-measure indicators for the prenatal identification of holoprosencephaly, even in early pregnancy. These indices provide objective assessment tools for the diagnosis of fetuses with holoprosencephaly.
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