胎儿后颅窝畸形：56例新增病例报告及文献综述

Posterior fossa malformation in fetuses: a report of 56 further cases and a review of the literature.

作者信息

Forzano F, Mansour S, Ierullo A, Homfray T, Thilaganathan B

机构信息

Clinical Genetics Unit, South West Thames Regional Genetic Service, St George's, University of London, London, UK.

出版信息

Prenat Diagn. 2007 Jun;27(6):495-501. doi: 10.1002/pd.1722.

DOI:10.1002/pd.1722

PMID:17367101

Abstract

OBJECTIVE

The purposes of this study were to determine the outcome of fetuses diagnosed as having a posterior fossa abnormality (PFA) and to find out if there are associated features helpful in determining the prognosis.

METHODS

This is a retrospective study of all posterior fossa abnormalities detected prenatally in our Units within the last 10 years. Fifty six patients were selected. Outcome data was collected from the Clinical Genetics Department records and the attending obstetrician or pediatrician.

RESULTS

An enlarged cisterna magna (ECM, diameter greater than 10 mm at 18-23 gw) was detected in 22 fetuses, which was isolated in 14 cases. All the patients followed-up (n = 11) with isolated ECM were normal at birth (100%). Non-isolated ECM was present in 8 cases. Further information was available in 7, 5 (71%) of whom had a poor outcome. A Dandy Walker complex abnormality (DWC) was detected in 34 patients. The majority of them had a poor prognosis, 54% if isolated and 84% if non-isolated.

CONCLUSIONS

Isolated ECM detected on prenatal scans has a favourable outcome, while DWC is associated with a very high chance of a poor prognosis.

摘要

目的

本研究旨在确定诊断为后颅窝异常（PFA）的胎儿的结局，并找出是否存在有助于判断预后的相关特征。

方法

这是一项对过去10年在我们单位产前检测出的所有后颅窝异常进行的回顾性研究。选取了56例患者。结局数据从临床遗传学部门记录以及主治产科医生或儿科医生处收集。

结果

22例胎儿检测出大枕大池扩大（ECM，孕18 - 23周时直径大于10 mm），其中14例为孤立性。所有接受随访的孤立性ECM患者（n = 11）出生时均正常（100%）。8例存在非孤立性ECM。7例可获取更多信息，其中5例（71%）结局不良。34例患者检测出Dandy-Walker综合征异常（DWC）。大多数患者预后不良，孤立性DWC患者预后不良的比例为54%，非孤立性DWC患者为84%。