胎儿Apert综合征产前超声诊断研究  

Prenatal diagnosis of Apert syndrome by sonography

作　　者：黎文雅[1,2] 李胜利[1] 余艳红[3] 文华轩[1] 王晨虹[4] 

机构地区：[1]南方医科大学附属深圳市妇幼保健院超声科,518028 [2]南方医科大学 [3]南方医科大学南方医院妇产科 [4]南方医科大学附属深圳市妇幼保健院产科,518028

出　　处：《中华医学超声杂志（电子版）》2014年第7期15-19,共5页Chinese Journal of Medical Ultrasound(Electronic Edition)

基　　金：国家自然科学基金面上项目(81270707);国家自然科学基金青年基金项目(61101026);2011年深圳市重点科技计划项目(201101013);广州市科技计划项目(2011Y2-00019)

摘　　要：目的探讨Apert综合征胎儿产前超声声像图特征。方法对2010年1月至2014年2月在深圳市妇幼保健院产前超声诊断为Apert综合征的4例胎儿超声影像检查资料进行总结,并与引产胎儿尸体解剖和产后诊断结果进行对照分析。结果 4例Apert综合征胎儿产前超声声像图特征及临床结局:(1)头颅异常:4例胎儿均表现为尖头、冠状缝早闭、前额隆凸,其中3例(例1～3)头颅形态呈"三叶草征"。(2)面部异常:4例胎儿中1例(例4)颜面部无明显异常,3例(例1～3)两眼眼距增宽和颜面部正中矢状切面轮廓线异常,1例(例2)鼻梁塌陷。(3)肢体异常:4例胎儿双手均呈对称性并指畸形(表现为"手套征"),产前超声检出1例(例2)双足并趾畸形。(4)伴发其他系统畸形:1例(例1)伴永久性右脐静脉,1例(例2)伴脊椎胸段椎管狭窄,1例(例3)伴双肾实质回声增强,1例(例4)伴左侧膈疝。(5)胎儿临床结局:4例胎儿超声检查后引产3例,胎儿标本外观检查发现产前超声漏诊2例(例1、2)双足并趾畸形;足月出生1例(例3),产后检查发现产前超声漏诊Ⅰ度腭裂伴双足并趾畸形,新生儿2 d后死亡。除漏诊Ⅰ度腭裂及双足并趾畸形外4例胎儿产前超声与产后检查结果均符合。结论 Apert综合征临床罕见,冠状缝早闭、尖头、颜面部正中矢状切面轮廓线异常和并指(趾)畸形为胎儿典型超声表现。产前超声发现胎儿头颅畸形、面容特殊应注意观察有无肢体畸形并连续追踪观察至产后。产前超声诊断Apert综合征对孕妇遗传咨询和胎儿出生后手术治疗有重要指导作用。Objective To discuss the prenatal ultrasound manifestations of Apert syndrome. Methods The prenatal ultrasound features of 4 fetuses identified as Apert syndrome after detailed antenatal ultrasound examinations between January, 2010 to Februry, 2014 in our hospital were analyzed. The ultrasound images and posmatal outcome or autopsy were compared to analysis the sonographic features of Apert syndrome in prenatal. Results The prenatal ulWasound characteristics and pregnant outcome of the 4 fetuses were showed as followings： （1） Skull deformity： 4 fetuses were all appeared as acrocephaly, coronal suture premature close and frontal protrusion, while 3 cases （case 1-3） had ＂clover leaf skull deformity＂ features. （2） Midfacial malformation deformity： 3 cases （case 1-3） were all with hypertelorism and mid-sagittal facial profile abnormal and only 1 case （case 2） had nose hypoplasia. （3） Limbs abnormal： 4 cases were all appeared as bilateral symmetry syndactyly of hands and 1 case （case 2） was diagnosed as bilateral symmetry syndactyly of feet. （4） Associated abnormality： persistent right umbilical vein in 1 case （casel）, thoracic spine stenosis in 1 case （case 2）, hyperechogenic renal parenchyma in 1 case （case 3） and left-diaphragmatic hernia in 1 case （case 4）. （5） The pregnant outcome： 3 cases underwent pregnancy termination and 1 case was labored at term. The 3 cases （casel-3） were diagnosed as bilateral symmetry syndactyly of feet after induced labor. The cleft palate and bilateral symmetry syndactyly of feet were misdiagnosed in the full-time infant （case 3）, who was died two days after birth. Conclusions The Apert syndrome is a rare syndrome. It generally has typical characteristic of prenatal ultrasound, such as coronal suture premature close, acrocephaly, mid-sagittal facial profile abnormal and bilateral symmetry syndactyly of hands and feet. Prenatal diagnosis of Apert syndrome can play an important role in genetic counseling and pos

关 键 词：超声检查 产前 胎儿 尖头并指(趾)畸形 先天畸形 

分 类 号：R714.5[医药卫生—妇产科学] R445.1[医药卫生—临床医学]