产前超声检查对胎儿前脑无裂畸形的诊断价值

邓凤莲; 郭燕丽; 段灵敏; 李锐; 薛雅方; 冯玉洁; 刘建君; 钟华; 王琰

中国临床医学影像杂志 ›› 2014, Vol. 25 ›› Issue (4) : 256-259.

论文

产前超声检查对胎儿前脑无裂畸形的诊断价值

邓凤莲，郭燕丽，段灵敏，李锐，薛雅方，冯玉洁，刘建君，钟华，王琰

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Diagnostic value of prenatal ultrasound for fetal holoprosencephaly

DENG Feng-lian, GUO Yan-li, DUAN Ling-min, LI Rui, XUE Ya-fang, FENG Yu-jie,
LIU Jian-jun, ZHONG Hua, WANG Yan

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摘要

目的：探讨产前超声检查对胎儿前脑无裂畸形（Holoprosencephaly，HPE）诊断的价值。方法：对我院产前超声检查中发现的34例胎儿前脑无裂畸形超声声像图特征及产后结果进行回顾性分析。结果：34例前脑无裂畸形胎儿中无叶HPE 21例，产前超声表现为单一脑室，丘脑融合，脑中线结构消失；半叶HPE 5例，产前超声表现为单一脑室，丘脑部分融合，可见部分脑中线；叶状HPE 8例，产前超声表现为无透明隔腔，侧脑室前角融合。34例前脑无裂畸形胎儿中合并单发或多发畸形29例，其中颜面部畸形23例，心脏畸形8例，肾脏异常4例，脊柱裂1例，肢体异常6例，全身水肿3例，单脐动脉6例，脐带囊肿1例，胃泡显示不清2例，羊水过多5例，羊水过少2例。34例中10例行染色体核型分析检查，结果3例13-三体，1例18-三体，1例染色体部分缺失，5例染色体核型正常。结论：产前超声检查对胎儿前脑无裂畸形具有较高的诊断价值，降低严重缺陷儿出生率，对临床诊断有重要意义。

Abstract

Objective: To investigate the clinical significance of antepartum ultrasound in holoprosencephaly(HPE) diagnosis. Methods: A total of 34 fetuses diagnosed as HPE from 2007 to 2013 in our hospital. Sonographic features and postpartum results were analysed retrospectively. Results: Among the 34 fetuses, 21 cases were diagnosed as alobar HPE, 5 cases as semilobar HPE, and 8 as lobar HPE. The characteristic ultrasound findings in alobar HPE were related to the single primitive ventricle, fused thalami, and absence of midline structures; semilobar HPE were related to the single primitive ventricle, partial fused thalami and partia1 absence of midline structures; and lobar HPE were related to the absence of septum pellucidum cavity, and fused anterior horn of lateral ventricle． There were 23 cases combined with other craniofacial malformations, 8 with cardiovascular malformations, 4 with kidney malformations, 1 with spina bifida, 6 with limbs abnormality, 3 with subcutaneous edema, 6 with single umbilical artery, 1 with umbilical cord cyst, 2 with absence of stomach, 5 with polyhydramnios and 2 with oligohydramnios. Ten karyotype analysis resulted in 3 Trisomy 13, 1 Triploid and 5 normal. Conclusions: Prenata1 ultrasound is a useful tool in diagnosing HPE with highly accuracy. It is necessary to undergo antepartum ultrasound for the pregnant women． The antepartum ultrasound is an effective method to screen HPE.

导出引用

邓凤莲;郭燕丽;段灵敏;李锐;薛雅方;冯玉洁;刘建君;钟华;王琰. 产前超声检查对胎儿前脑无裂畸形的诊断价值[J]. 中国临床医学影像杂志. 2014, 25(4): 256-259

DENG Feng-lian;GUO Yan-li;DUAN Ling-min;LI Rui;XUE Ya-fang;FENG Yu-jie;LIU Jian-jun;ZHONG Hua;WANG Yan. Diagnostic value of prenatal ultrasound for fetal holoprosencephaly[J]. Journal of China Clinic Medical Imaging. 2014, 25(4): 256-259

中图分类号： Ｒ714.53 Ｒ445.1