用于评估脑部异常胎儿的父母磁共振成像。

Stephanie Libzon,Michal Gafner,Dorit Lev,Nilly Waiserberg,Liat Gindes,Zvi Leibovitz,Liat Ben-Sira,Tally Lerman-Sagie
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摘要

目的评估父母磁共振成像(MRI)在评估疑似脑异常胎儿中的作用及其在产前咨询中的应用。方法对 2008 年 1 月至 2022 年 12 月间因疑似脑异常而接受脑磁共振成像的胎儿,以及作为产前咨询一部分接受脑磁共振成像(MRI-Trio)的父母一方或双方进行了回顾性多中心病历审查。研究人员收集了临床和人口统计学数据,包括胎儿和父母的核磁共振成像结果、产前咨询结果、基因检测结果、家族史和既往妊娠史、出生后 24 个月内的神经系统检查结果,以及终止妊娠胎儿的尸检报告。核磁共振成像-三者一致性的定义是,在胎儿和父母中至少发现一个相似的异常脑特征。通过神经发育评估或电话访谈对活产儿进行了产后评估。结果共纳入了 60 例妊娠(41.7% 的妊娠与 MRI-Trio 一致,58.3% 的妊娠与 MRI-Trio 不一致)。42名婴儿出生(70%),17名孕妇终止妊娠(28.3%)。报告了一例宫内胎儿死亡病例(1.7%)。最常见的脑部发现是多发畸形(26 例,43.3%)、孤立的胼胝体紊乱(17 例,28.3%)、非典型脑室周围假囊肿(6 例,10%)和前复合体异常(4 例,6.7%)。核磁共振成像-三重成像能更好地预测预后。当磁共振成像-三重成像一致时,咨询效果更佳(n = 22,36.6%),且大多数活产患儿表现出典型的发育(p < 0.001)。一致的磁共振成像-三重成像结果可提高产前咨询的准确性,从而降低终止妊娠的发生率。
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Parental magnetic resonance imaging for the evaluation of fetuses with brain anomalies.
AIM To evaluate the role of parental magnetic resonance imaging (MRI) in assessing fetuses with suspected brain anomalies and its use in prenatal counselling. METHOD A retrospective, multicentre chart review was conducted on fetuses who underwent brain MRI because of suspected brain abnormalities between January 2008 and December 2022, with one or both parents who underwent brain MRI (MRI-Trio) as part of prenatal counselling. Clinical and demographic data were collected, including fetal and parental MRI findings, prenatal counselling outcomes, genetic testing results, family and previous pregnancy history, neurological examinations of the born children up to 24 months of age, and autopsy reports of fetuses from terminated pregnancies. MRI-Trio concordance was defined as at least one abnormal brain feature identified with similarity in the fetus and the parents. The live-born children were assessed postnatally through either neurodevelopmental evaluations or telephone interviews. RESULTS Sixty pregnancies were included (41.7% with concordant and 58.3% with discordant MRI-Trio). Forty-two children were born (70%) and 17 pregnancies were terminated (28.3%). One case of in utero fetal death (1.7%) was reported. The most common brain findings were multiple anomalies (n = 26, 43.3%), isolated disorders of the corpus callosum (n = 17, 28.3%), atypical periventricular pseudocysts (n = 6, 10%), and anomalies of the anterior complex (n = 4, 6.7%). MRI-Trio enabled better prognostication. When MRI-Trio was concordant, counselling was more favourable (n = 22, 36.6%) and the majority of live-born children exhibited typical development (p < 0.001). INTERPRETATION MRI-Trio is a valuable tool for identifying dominantly inherited brain anomalies that may not hold developmental significance or are associated with favourable outcomes, acknowledging the potential for variable penetrance, which may result in more severe presentations. Concordant MRI-Trio findings can enhance the accuracy of prenatal counselling, potentially reducing the incidence of termination of pregnancy.
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