Outcomes of patients with prenatally diagnosed agenesis of the corpus callosum in conjunction with ventriculomegaly

Arch Gynecol Obstet. 2014 Aug;290(2):237-42. doi: 10.1007/s00404-014-3196-6. Epub 2014 Mar 13.

Abstract

Purpose: We evaluated the postnatal outcomes of patients with prenatally diagnosed agenesis of the corpus callosum (ACC), in conjunction with ventriculomegaly, as a tool for parental counseling.

Materials and methods: Through a retrospective review of maternal and infant records, we evaluated the postnatal outcomes of 21 patients with prenatally diagnosed ACC and fetal ventriculomegaly.

Results: Ten of the 21 patients (48 %) were diagnosed with isolated ACC. Among these 10 patients, neurodevelopmental outcomes were normal in four, uncertain in one, and five demonstrated mild or moderate disabilities. The remaining 11 patients had ACC associated with either central nervous system (CNS) anomalies (7 of 11) or chromosomal abnormalities (4 of 11). The outcomes were estimated in nine of the 11 children; all nine had severe disabilities. The mortality rate of ACC, associated with other anomalies, was 29 % (2 of 7) in children with CNS anomalies and 75 % (3 of 4) for those with chromosomal abnormalities.

Conclusion: If ACC with fetal ventriculomegaly is associated with other malformations, a poor outcome is highly likely. Although the outcome of isolated ACC with fetal ventriculomegaly was generally better, >50 % of the patients had mild or moderate neurodevelopmental disabilities. These findings provide useful information for parental counseling.

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis*
  • Agenesis of Corpus Callosum / diagnostic imaging
  • Agenesis of Corpus Callosum / mortality
  • Cerebral Ventricles / abnormalities*
  • Child
  • Child, Preschool
  • Chromosome Aberrations
  • Counseling
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Nervous System Malformations / diagnosis
  • Nervous System Malformations / mortality
  • Parents / psychology
  • Pregnancy
  • Retrospective Studies
  • Ultrasonography, Prenatal