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[产前胼胝体发育不全诊断对妊娠结局的影响。2000年至2006年间155例病例的评估]

[Impact of prenatal corpus callosum agenesis diagnosis on pregnancy outcome. Evaluation of 155 cases between 2000 and 2006].

作者信息

Isapof A, Kieffer V, Sacco S, Billette de Villemeur T, Gelot A, Garel C, Adamsbaum C, Lewin F, Jouannic J-M, Raffo E, Moutard M-L

机构信息

Service de neuropédiatrie, hôpital Armand-Trousseau, 75012 Paris, France.

出版信息

Arch Pediatr. 2010 Mar;17(3):226-32. doi: 10.1016/j.arcped.2009.10.029. Epub 2010 Feb 1.

Abstract

The purpose of this study was to investigate the changes between 2000 and 2006 in pregnancy outcome when a diagnosis of either isolated or associated fetal corpus callosum agenesis (CCA) was made, given that beginning in 2003, the information provided to couples facing this problem related a good prognosis in nearly 80 % of cases of isolated CCA and a poor prognosis in 20 % of cases. We retrospectively analyzed all pregnancies with a fetal diagnosis of CCA between 2000 and 2006 (n=155) and compared two periods: the first group from 2000 to June 2003, the second from July 2003 to 2006. For each group, we analyzed the type of CCA during pregnancy - either isolated or associated - and the outcome of pregnancy. We compared the rate of pregnancy termination before and after 2003 and analyzed the accuracy of the prenatal CCA diagnosis. Of the 155 patients studied, 62 terminated the pregnancy. The overall rate of termination decreased from 31/70 to 31/85. When CCA was said to be isolated prenatally, the rate of pregnancy termination fell from 13/35 to 9/44 (-17 %) (p<0.05). Nine diagnoses of CCA were corrected after birth or by postmortem examination. Improvement of prenatal diagnosis requires better quality of prenatal screening, with a more systematic study of dysmorphic features, a study of correlations between the type of CCA and the neurological prognosis, and more genetic studies.

摘要

本研究的目的是调查2000年至2006年期间,当诊断为孤立性或相关性胎儿胼胝体发育不全(CCA)时妊娠结局的变化,因为从2003年开始,向面临此问题的夫妇提供的信息表明,近80%的孤立性CCA病例预后良好,20%的病例预后不良。我们回顾性分析了2000年至2006年期间所有诊断为胎儿CCA的妊娠(n=155),并比较了两个时期:第一组为2000年至2003年6月,第二组为2003年7月至2006年。对于每组,我们分析了孕期CCA的类型——孤立性或相关性——以及妊娠结局。我们比较了2003年前后的妊娠终止率,并分析了产前CCA诊断的准确性。在155名研究患者中,62人终止了妊娠。总体终止率从31/70降至31/85。当产前诊断为孤立性CCA时,妊娠终止率从13/35降至9/44(-17%)(p<0.05)。9例CCA诊断在出生后或尸检时得到纠正。产前诊断的改善需要提高产前筛查质量,更系统地研究畸形特征,研究CCA类型与神经预后之间的相关性,以及更多的遗传学研究。

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