Department of Obstetrics and Gynecology, University of Tsukuba Hospital, 2-1-1 Amakubo, Tsukuba-shi, Ibaraki-ken, 305-8576, Japan,
Arch Gynecol Obstet. 2014 Aug;290(2):237-42. doi: 10.1007/s00404-014-3196-6. Epub 2014 Mar 13.
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.
Through a retrospective review of maternal and infant records, we evaluated the postnatal outcomes of 21 patients with prenatally diagnosed ACC and fetal ventriculomegaly.
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.
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.
我们评估了伴有脑室扩张的产前诊断为胼胝体发育不全（ACC）患者的产后结局，作为对家长进行咨询的工具。
通过对母婴病历的回顾性分析，我们评估了 21 例产前诊断为 ACC 和胎儿脑室扩张的患者的产后结局。
21 例患者中有 10 例（48%）被诊断为单纯性 ACC。这 10 例患者中，4 例神经发育结局正常，1 例不确定，5 例表现为轻度或中度残疾。其余 11 例患者的 ACC 伴有中枢神经系统（CNS）异常（11 例中的 7 例）或染色体异常（11 例中的 4 例）。在这 11 名儿童中，有 9 名的预后情况被评估；9 名儿童均有严重残疾。伴有其他异常的 ACC 的死亡率在 CNS 异常儿童中为 29%（7 例中的 2 例），在染色体异常儿童中为 75%（4 例中的 3 例）。
如果伴有胎儿脑室扩张的 ACC 伴有其他畸形，那么预后很可能很差。尽管伴有胎儿脑室扩张的单纯性 ACC 的结局通常较好，但仍有>50%的患者存在轻度或中度神经发育残疾。这些发现为家长咨询提供了有用的信息。
