Screening performance for callosal agenesis in prenatal life. Single center study

Area of Science:

• Medical Imaging
• Fetal Medicine
• Diagnostic Accuracy

Background:

• Agenesis of the corpus callosum (ACC) is a significant congenital brain malformation.
• Accurate prenatal diagnosis is crucial for appropriate management and counseling.

Purpose of the Study:

• To assess the screening performance of second-trimester ultrasound for ACC.
• To evaluate the diagnostic agreement between prenatal ultrasound and MRI.
• To compare prenatal and postnatal diagnostic accuracy for ACC.

Main Methods:

• Prospective observational study design.
• Inclusion of fetuses with suspected ACC.
• Referral for prenatal MRI (pMRI) for all suspected cases.

Main Results:

• Second-trimester scan demonstrated 73% sensitivity and 99% specificity for ACC.
• One case initially suspected was not confirmed by pMRI but showed partial ACC on neonatal MRI (nMRI).
• Prenatal MRI and ultrasound showed similar rates of misdiagnosis.

Conclusions:

• Second-trimester ultrasound is a valuable screening tool for ACC.
• Prenatal MRI and ultrasound have comparable diagnostic performance, with potential for misdiagnosis in both modalities.
• Further investigation may be needed for subtle or partial ACC cases.