157例核磁确诊侧脑室增宽胎儿产前诊断及妊娠结局分析

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摘要目的分析157例不同程度侧脑室增宽胎儿的染色体情况及妊娠结局。方法回顾性分析2014年3月—2017年3月超声诊断侧脑室增宽并于北京大学第三医院行核磁检查确诊的157例单胎妊娠病例。按照侧脑室增宽程度分为轻度(10≤~＜12 mm)、中度(12≤~＜15 mm)、重度(≥15 mm)三组,分析其合并颅内其他异常情况,通过介入性产前诊断行染色体核型分析和单核苷酸多态性微阵列(SNP-array)检查,并对其妊娠结局和新生儿发育情况进行随访。结果 157例患者,合并颅内其他异常率为35.0%,其中轻度组异常率为23.5%,中度组为52.0%,重度组为66.7%,三组差异有统计学意义,且随着侧脑室宽度的增加,合并颅内其他异常率升高(Contingency Coefficient=0.3,P=0.000)。59例患者行产前诊断,发现3例胎儿染色体微缺失,分别为46,XN,del(19)(p13.3p13.2)(2.1Mb);46,XN,del(17) (p13.3p13.2) (4Mb);46,XN,del(4)(q21.23q22.23)(10.9Mb),异常率5.1%,4例染色体多态,分别为:46,XY,inv(9)(p11q12);46,XY,14pstk+;46,XY,inv(9)(p11q12);46,XX,15pstk+。157例患者中有43例失访,其中轻度组27例(27.6%),中度组15例(30.0%),重度组1例(11.1%)。114例随访患者中90例分娩,24例引产,三组引产患者差异有统计学意义,且随着侧脑室宽度的增加,引产率明显增高(Contingency Coefficient=0.275,P=0.01)。90例已分娩患者,三组新生儿预后差异无统计学意义。结论轻度侧脑室增宽胎儿仍需产前诊断,即使染色体检查结果为正常,仍有预后不良可能。

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	李怡梅
	龚丽君
	魏瑗
	杨静
	李瓅

关键词 ：侧脑室, 核磁共振, 产前诊断, 妊娠结局

Abstract：Objective To analyze the relationship of chromosomal status and pregnancy outcomes in different degrees of fetal ventriculomegaly. Methods We retrospectively analyzed 157 singletons diagnosed with ventriculomegaly by ultrasonography and nuclear magnetic resonance examination from March 2014 to March 2017 at Peking University Third Hospital. The cases were divided into mild group (10-12 mm), moderate group (12.1-14.9 mm) and severe group (≥15 mm). We performed invasive prenatal diagnosis (karyotype+SNP-array), and followed up the pregnancy outcome and neonatal development. Results Among the 157 patients, 35.0 % ventriculomegaly fetus were combined with other malformations, of which the rate was 23.5 % in mild group, 52.0 % in moderate group and 66.7 % in severe group, respectively. There were statistical significances among the three groups, and the abnormal rate increased as the width of ventriculomegaly enlarged (Contingency Coefficient=0.304, P=0.000). With 59 patients invasive prenatal diagnosed, we found 3 cases with microdeletion:46,XN,del(19) (p13.3p13.2)(2.1Mb); 46,XN,del(17) (p13.3p13.2) (4Mb); 46,XN,del(4) (q21.23q22.23)(10.9Mb), and 4 cases with chromosome polymorphism:46,XY,inv(9)(p11q12); 46,XY,14pstk+; 46,XY,inv(9)(p11q12); 46,XX,15pstk+. There were 90 cases delivered, 43 cases lost, and 24 cases who induced labor. There were statistical significances among the three groups of induced labor, and the rate increased as the width of ventriculomegaly enlarged (Contingency Coefficient=0.3,P=0.01). However, there were no statistically significant differences in the prognosis of three groups of neonates. Conclusion Invasive prenatal diagnosis towards mild ventriculomegaly is necessary. There might also be a poor prognosis although the results of genetic test are normal.

Key words： ventriculomegaly MRI prenatal diagnosis pregnancy outcome

收稿日期: 2018-08-02

基金资助:教育部留学回国人员基金

通讯作者: 龚丽君(songrb@263.net)

引用本文:

李怡梅，龚丽君，魏瑗，杨静，李瓅. 157例核磁确诊侧脑室增宽胎儿产前诊断及妊娠结局分析[J]. 中国生育健康杂志, 2019, 30(4): 327-331.
LI Yimei, GONG Lijun, WEI Yuan, YANG Jing, LI li. Prenataldiagnosis and pregnancy outcome analysis of 157 cases with fetal ventriculomegaly scanned by MRI. Chinese Journal of Reproductive Health, 2019, 30(4): 327-331.

链接本文:

http://cjrh.bjmu.edu.cn/CN/ 或 http://cjrh.bjmu.edu.cn/CN/Y2019/V30/I4/327

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