Application of prenatal ultrasonography and magnetic resonance imaging on fetal agenesis of corpus callosum

Abstract

Objectives: To evaluate the diagnostic value and clinical application of prenatal ultrasonography (US) and Magnetic Resonance Imaging (MRI) for different types of fetal Agenesis of the Corpus Callosum (ACC). Material and methods: There were 42 cases of fetal ACC discovered by routine US, including complete ACC 18 cases and partial ACC 24 cases, checked by MRI within 1 week. The results were confirmed by head ultrasound after birth or brain biopsy after labor induction. Results: From prenatal ultrasonic diagnosis, 18 cases were complete ACC and 24 cases were partial ACC. MRI was able to find complete ACC in 11 cases, partial ACC in 16 cases, and non-ACC in 15 cases. Labor induction or birth confirmed that, 11 cases were complete ACC, 14 cases were partial ACC, and 17 cases were non-ACC.The results of different types of ACC were detected by ultrasound and MRI were statistically significant (p < 0.05).MRI examination was superior to ultrasound in specificity, positive predictive value, negative predictive value, Youden index, and diagnostic index. Conclusions: MRI is high specific degrees, diagnostic performance is satisfactory, should be use as a necessary method for prenatal definitive diagnosis of ACC. However, prenatal ultrasound can be tested repeatedly and can be combined with blood flow imaging detection in real time, and it is still the preferred method for screening fetal structural malformation in a comprehensive way, which is suitable for general screening of ACC.

Scoping Review of the Prenatal Diagnosis of Agenesis of the Corpus Callosum

“…Findings within many studies demonstrated discrepancies between the prenatal and postnatal or post-mortem diagnoses (Bell et al, 2015;Craven, Bradburn, & Griffiths, 2015;Griffiths et al, 2017;Huras et al, 2017;Jarre et al, 2017;Min, A & Zou, L., 2020;Santirocco et al, 2019). This discrepancy may relate to the technology, method of diagnosis, or the experience of the diagnostician (Cignini et al, 2010).…”

“…Griffiths et al (2017) reported that termination was offered to 21 parents based upon the ultrasound results alone and that this option was retracted in five cases after fetal MRI (fMRI) refuted the ACC diagnosis. The false-positive diagnosis of ACC by ultrasound was described in three studies where fMRI ruled out the anomaly in 1/11 (Huras et al, 2017), 28/78 (Jarre et al, 2017) and 15/42 (Min, et al 2020). A further ultrasound accuracy study that utilized post-mortem, fMRI, and postnatal imaging as references, found that 54 post-ACC SCOPING REVIEW 12 mortems confirmed ACC within 46 fetuses, two fetuses had a typically developed CC, and the final six were inconclusive (Santirocco et al, 2019).…”

“…The search for an earlier diagnosis was undertaken and included the assessment of the visualization of the pericallosal artery (Diaz-Guerrero et al, 2013;Kalayci et al, 2018) and of the midbrain and flax diameters as potential early markers of ACC (Kalayci et al, 2018;Lachmann et al, 2013). However, a premature diagnosis of partial ACC was cautioned given the rate of misdiagnosis and the subsequent psychological burden (Min, et al 2020).…”