Cantrell综合征产前超声诊断及图像分析

目的：总结Cantrell综合征（Cantrell五联征）胎儿产前超声声像图特征及产后追踪随访结果。方法对2007年1月至2013年12月深圳市妇幼保健院产前超声诊断并经引产或产后检查证实的20例Cantrell综合征胎儿产前超声声像图特征及产后追踪随访结果进行总结分析。结果20例Cantrell综合征胎儿中单胎妊娠18例，双胎之一Cantrell综合征2例。产前超声表现：20例胎儿共有畸形特征为异位心和高位脐膨出（17例）或腹裂（3例）。其中心脏完全异位于胸腔外14例（心脏异位于脐膨出包块内1例，心脏完全暴露于羊水中13例），心脏部分异位于胸腔外6例；合并室间隔缺损3例且其中合并肺动脉狭窄1例，单心房单心室2例且其中合并单一动脉干1例，法洛四联症1例，心内结构无明显异常6例。合并其他系统畸形：20例中17例合并其他系统畸形，包括脊柱畸形11例，脐带异常9例（脐带短6例，单脐动脉2例，脐带短并单脐动脉1例），神经系统畸形5例（露脑畸形4例，脑膨出1例），肢体异常4例，唇腭裂3例和巨膀胱1例；3例未合并其他系统畸形。颈项透明层（NT）测量结果：20例中8例早孕期行NT测量，其中NT增厚5例，双胎之一颈部水囊瘤1例。染色体核型检查结果：20例胎儿仅3例行染色体核型检查，其中2例染色体核型正常，1例为21-三体。胎儿结局及引产或产后检查结果：20例中1例双胎之一Cantrell综合征胎儿出生无法存活，另一双胎之一Cantrell综合征胎儿宫内减胎术治疗无法获得标本；余18例单胎均引产。引产及产后胎儿大体标本外观检查（19例）及胎儿标本尸检（5例）均与产前超声检查结果相符。结论 Cantrell综合征胎儿产前超声特征性表现为异位心和高位脐膨出或腹裂同时存在，合并的其他系统异常可能为Cantrell综合征畸形谱的一部分；早孕期超声筛查有利于发现并诊断胎

Prenatal ultrasound diagnosis of Cantrell's syndrome and image analysis

Objective To summarize prenatal ultrasound image features of Cantrell′s syndrome （Cantrell′s pentalogy）.MethodsFrom January 2007 to December 2013 in Shenzhen Maternity ＆ Child Healthcare Hospital, there were twenty cases diagnosed and conifrmed by postmortem as Cantrell′s syndrome. The prenatal ultrasound image features and outcomes were analyzed.ResultsAmong the twenty cases, eighteen were singleton and two were twins with the other normal fetus. Prenatal ultrasound image： two obvious ultrasound image features of ectopic heart and hight omphalocele （seventeen cases） or gastroschisis （three cases） were appeared in prenatal ultrasound of twenty cases. Fourteen cases were complete ectopic heart （Ectopic heart was located within the omphalocele in one case, ectopic heart was completely exposed in amniotic lfuid in thirteen cases）, six cases were incomplete ectopic heart, three cases were ventricular septal defect in which one was associated with pulmonary stenosis, two cases were single atrium and single ventricle in which one was associated with a single arterial trunk, one case was tetralogy of Fallot, and six cases were without signiifcant heart abnormalities. Associated with other abnormalities： seventeen cases were associated with other abnormalities in twenty cases, in which eleven cases were spinal abnormalities, nine cases were umbilical cord abnormalities （short umbilical cord in six cases, single umbilical artery in two cases, short umbilical cord associated with single umbilical artery in one case）, ifve cases were neurological abnormalities （exencephalia in four cases, encephalocele in one case）, four cases were limb abnormalities, three cases were cheilopalatognathus, one case was giant bladder. Three cases weren′t associated with other abnormalities. Nuchal Translucency： in eight cases, nuchal translucency were measured in early pregnancy. Nuchal translucency of ifve cases were thick, one case was cervical hygroma in one of the two twins. Chromosome examination r