OP03.02: Long‐term follow‐up of children with prenatally diagnosed agenesis of corpus callosum (ACC)

Abstract

Oral poster abstractsto four different reference range, for all head circumferences. Based on the reference chart that best fitted our practice during the study period, we identified all cases with HC below the 5 th centile (Z score < 1.645). Outcomes were collected and analyzed according to HC Z scores at US examination. Results: 33 720 patients underwent ultrasound examinations during the study period and were included in the study. Based on the most appropriate reference range, 1102 foetuses (3.3%) had a HC under the 5 th percentile and were selected. Using that reference charts, HC Z scores of the selected fetuses ranged from −4 to −1.645. Outcomes varied according to the degree of HC smallness. Neurological abnormalities were more frequent when Z scores were below −3, whereas normal outcome or isolated growth restrictions were more frequent when Z scores were between −1.645 and −2. Conclusions: Outcome is highly different according to the degree of HC smallness. The use of Z scores may help in predicting the outcome of those fetuses with antenatally diagnosed HC below the 5 th centile. OP03.02Long-term follow-up of children with prenatally diagnosed agenesis of corpus callosum (ACC) Objectives:The complete or partial absence of the corpus callosum has an incidence of 0.3% to 0.7% in the general population. There are both a wide variation in outcome between completely asymptomatic appearance and severe neurologic problems and a lack of clinical data to counsel concerned couples. Aim was to study the outcome and follow-up of pregnancies with prenatally diagnosed ACC. Methods: Maternal, neonatal, and pediatric records of prenatally diagnosed central nervous system (CNS) malformation/ACC in a tertiary referral center were reviewed over a 13-year period (1995)(1996)(1997)(1998)(1999)(2000)(2001)(2002)(2003)(2004)(2005)(2006)(2007). Prenatal findings were compared with postnatal diagnosis, made either at autopsy, or a combination of postnatal imaging (sonography/MRI) and clinical follow-up. Information on current outcome was assessed by scored neurological examination. Results: 24 fetuses (10%) out of 241 diagnosed with a CNS malformation had an ACC. Complete ACC occurred in 18/24 (75%). A total of 46% (11/24) were isolated lesions. Associated anomalies include microcephaly, heterotopia, spina bifida, and Dandy-Walker complex. A total of 21% (all associated with other structural/chromosomal abnormalities) were terminated. 79% of pregnancies (19/24) resulted in live births. Follow-up was available in 17 children. Psychomotor development was normal or slightly/moderately disabled for 80% (8/10) of children with isolated lesions. 5 out of 7 children with associated malformations are severely disabled/retarded and suffer from developmental delay, seizures, or cerebral palsy. These findings are nonrelated to complete or partial ACC. Conclusions:The prognosis depends on the associated malformations. The best prognosis occurs if ACC is isolated, although significant neurodevelopmental delay develops also in a consisten...