孤立性胼胝体发育异常胎儿临床预后分析

Clinical prognostic analysis of fetuses with isolated corpus callosum development abnormality

目的探讨孤立性胼胝体发育异常(CCA)胎儿临床预后。方法将染色体微阵列分析(CMA)检测结果阴性的孤立性CCA患儿设为观察组,选取同期出生的健康婴幼儿作为对照组,采用格塞尔婴幼儿发展量表(Gesell发育量表)评估两组对象的生长发育情况,并对两组对象Gesell发育量表5个能区(适应性、大运动、精细运动、语言和个人-社交)的发育商进行比较。结果Gesell评分显示适应性、大运动、精细运动、语言和个人-社交5个能区发育临界水平以上的患儿比例分别为100.00%、75.00%、91.67%、83.33%和83.33%,且5大能区均达到临界水平以上的患儿为58.33%;与对照组比较,孤立性CCA患儿在大运动、精细运动、语言和个人-社交4个能区存在不同程度的发育落后;部分型胼胝体缺如(pACC)和完全型胝体缺如(cACC)患儿适应性、大运动、精细运动、语言和个人-社交5个能区发育商比较差异无统计学意义(P>0.05)。结论大部分的CCA患儿在排除染色体微缺失微重复综合征后预后良好,pACC与cACC患儿预后无明显差异。

Objective To investigate the clinical prognosis of the fetuses with isolated corpus callosum abnormality(CCA).Methods The delivered fetuses with negative results of chromosomal microarray analysis(CMA)and isolated corpus callosum abnormality served as the observation group,and the normal neonates born in the same period were selected as the control group.The Gesell developmental scale was used to evaluate the growth and development situation of the subjects in the two groups.The chi-square test was performed by the development quotient from 5 ergoregions(adaptability,gross motor,fine motor,language and personal-social contact)in the Gesell scale.Results The Gesell scores showed that the proportions of the infantile patients with above critical level of 5 ergoregions(adaptability,gross motor,fine motor,language and personal-social contact)were 100.00%,75.00%,91.67%,83.33%and 83.33%,respectively,moreover the infantile patients with above critical level in 5 ergoregions accounted for 58.33%;compared with the control group,the infantile patients with CCA had different degrees of developmental lag in gross motor,fine motor,language and personal-social contact.The developmental quotient in the five ergoregions of adaptability,gross motor,fine motor,language and personal-social contact had no significant differences between the infants with partial absence of corpus callosum(pACC)and complete absence of corpus callosum(cACC)(P>0.05).Conclusion Most of the infantile patients with CCA have good prognosis by excluding chromosomal microdeletion and microrepetition syndrome.The prognosis have no significant difference between the infantile patients with pACC and the infantile patients with cACC.