早孕期诊断胎儿体蒂异常超声与病理对照研究

目的探讨早孕期胎儿体蒂异常超声诊断的临床价值。 方法对2009年1月至2014年7月早孕期在湖北省妇幼保健院超声筛查诊断体蒂异常的17例胎儿超声声像图特征及引产胎儿病理尸检（15例）结果进行对照研究。 结果早孕期诊断体蒂异常的17例胎儿超声表现与中晚孕期相同：腹壁大的缺损及肿块回声，严重脊柱侧弯，肢体异常，颅面缺损，神经管缺陷和脐带极短或缺失。其中多数胎儿（10例）合并心脏，泌尿系统等畸形。17例体蒂异常胎儿早孕期特有的超声表现：头臀径（CRL）测值评估孕周均小于临床孕周；颈项透明层（NT）增厚11例，胚外体腔持续存在13例。妊娠结局：17例体蒂异常胎儿超声检查后胎儿母亲均选择终止妊娠，15例引产胎儿标本尸检证实与产前超声诊断相符合；畸形分类：Ⅰ型3例，以颅面缺陷为主要特征；Ⅱ型12例，无颅面畸形，腹部-胎盘附着为主要特征，8例伴肢体畸形；2例未行病理尸检。17例体蒂异常胎儿产前超声漏误诊心脏及肢体异常9例。 结论早孕期系统超声筛查对检出胎儿体蒂异常有重要临床价值，胎儿体蒂异常合并心脏及肢体异常产前超声易漏诊或误诊。

Comparison of prenatal ultrasound and postmortem findings in fetuses with body stalk anomaly in first trimester

ObjectiveTo explore the value of prenatal ultrasound diagnosis of fetal body stalk anomaly (BSA) in first trimester. MethodsSeventeen cases with body stalk anomaly diagnosed in first trimester at Department of Ultrasound Diagnosis in Hubei Maternal and Child Health Hospital from 2009 to July 2014 were included in the study. The prenatal sonographic characteristics were analyzed from the seventeen cases with BSA in first trimester, fifteen of whom were compared with the pathological autopsy results. ResultsThe ultrasonographic features of BSA in first trimester were the same as the findings in second and third trimesters, including major abdominal wall defect and mass, severe kyphoscoliosis, limb abnormalities, craniofacial defects, neural tube defects, and short umbilical cord. Some of them (10 cases) were associated with other malformations, such as cardiac anomalies, urinary tract anomalies and so on. There are several characteristic ultrasound features for BSA in first trimester, including under-gestational age crown rump length (CRL), increased nuchal translucency (NT), persisted extra-embryonic celomic cavity, and mass outside amniotic cavity. All of seventeen cases choose to terminate pregnancy. Of them, fifteen cases were confirmed by gross pathology. Three cases were type I, which were characterized by the craniofacial defects. Twelve cases were typeⅡ, which were characterized by abdominal placental attachment. Eight cases were associated with limbs defect. Nine cases with fetal heart and lime abnormalities were missed or misdiagnosed. ConclusionsSystem ultrasonography screening in first trimester has important clinical value in diagnosing BSA. It is prone to missed diagnosis and misdiagnosis for BSA with abnormalities of fetal heart and limbs in first trimester.