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胎儿脑实质内出血的影像学表现、病因及结局:单中心队列研究。

Fetal Intraparenchymal Hemorrhage Imaging Patterns, Etiology, and Outcomes: A Single Center Cohort Study.

机构信息

Department of Neurology, University of California San Francisco, San Francisco, CA.

Department of Radiology and Biomedical Imaging, University of California San Francisco, San Francisco, CA.

出版信息

Ann Neurol. 2024 Dec;96(6):1137-1147. doi: 10.1002/ana.27072. Epub 2024 Aug 31.

Abstract

OBJECTIVE

This study examines associations among fetal brain magnetic resonance imaging (MRI) injury patterns, etiologies, and outcomes in fetal intraparenchymal hemorrhage (IPH).

METHODS

This is a retrospective, single-center cohort study of IPH diagnosed on fetal MRI (1996-2022). IPH and associated abnormalities were categorized by 2 pediatric neuroradiologists; electronic medical records were reviewed by 2 pediatric neurologists to classify etiology and outcomes including cerebral palsy, epilepsy, developmental delay, and death.

RESULTS

Forty-four fetuses with IPH were identified (34 singleton and 10 twin gestations) with MRI at median 24 weeks gestation (interquartile range [IQR] = 22-28 weeks). IPH was commonly supratentorial (84%) and focal (50%) or focal with diffuse injury (43%) and was often associated with germinal matrix hemorrhage (GMH; 75%) and/or intraventricular hemorrhage (IVH; 52%). An etiology was identified in 75%, including twin-twin transfusion syndrome (TTTS, n = 10), COL4A1/2 variants (n = 8), or other fetal/maternal conditions (n = 15). COL4A1/2 variants were associated with focal IPH and the presence of hemorrhagic porencephaly, and intrauterine transfusion was associated with infratentorial hemorrhage. Twenty-two fetuses were liveborn, and 18 pregnancies were terminated. Among those with follow-up ≥ 12 months (median = 7 years), 12 of 13 had cerebral palsy, 6 of 13 had developmental delay, and 5 of 13 had epilepsy.

INTERPRETATION

An etiology for fetal IPH with or without GMH-IVH is identified in most cases in our cohort and is commonly TTTS, COL4A1/2 variants, or other maternal/fetal comorbidities. Pattern of fetal IPH on MRI is associated with etiology. Cerebral palsy and neurodevelopmental impairment were common in liveborn infants. Genetic studies should be considered in cases of fetal IPH without an otherwise apparent cause. ANN NEUROL 2024;96:1137-1147.

摘要

目的

本研究旨在探讨胎儿脑磁共振成像(MRI)损伤模式、病因与胎儿脑实质内出血(IPH)结局之间的关联。

方法

这是一项回顾性、单中心队列研究,纳入了 1996 年至 2022 年间在胎儿 MRI 上诊断为 IPH 的病例。由 2 名儿科神经放射科医生对 IPH 及其相关异常进行分类;由 2 名儿科神经科医生通过查阅电子病历对病因和结局进行分类,结局包括脑瘫、癫痫、发育迟缓及死亡。

结果

共纳入 44 例 IPH 胎儿(34 例为单胎妊娠,10 例为双胎妊娠),MRI 检查中位数孕周为 24 周(四分位距 [IQR] = 22~28 周)。IPH 常见于幕上(84%),呈局灶性(50%)或局灶性伴弥漫性损伤(43%),常伴有脑室内出血(IVH;52%)和/或脑室内出血(GMH;75%)。75%的病例明确了病因,包括双胎输血综合征(TTTS,n=10)、COL4A1/2 变异(n=8)或其他胎儿/母体疾病(n=15)。COL4A1/2 变异与局灶性 IPH 和出血性脑穿通畸形有关,宫内输血与幕下出血有关。22 例胎儿为活产,18 例妊娠终止。在随访时间≥12 个月(中位数=7 年)的 13 例患者中,12 例有脑瘫,6 例有发育迟缓,5 例有癫痫。

结论

在本队列中,大多数伴有或不伴有 GMH-IVH 的胎儿 IPH 都明确了病因,常见病因是 TTTS、COL4A1/2 变异或其他母体/胎儿合并症。胎儿 IPH 的 MRI 表现与病因有关。脑瘫和神经发育障碍在存活婴儿中很常见。对于无明显其他原因的胎儿 IPH,应考虑进行基因研究。

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