超声诊断胎儿肢体-体壁综合征合并下肢并拢僵直与足外翻1例

2020-05-07 蔡畅 蔡爱露 杨泽宇 中国临床医学影像杂志

病例孕妇,35岁,孕1产0,妊娠17周2天。超声检查:宫腔内见一单活胎,胎头轮廓完整,脑中线居中,双顶径3.6 cm。脊柱显示至胸腰段后回声中断,前凸侧弯。胎腹空虚,腹壁回声不连续,广泛缺损,肝脏及胃

病例孕妇,35岁,孕1产0,妊娠17周2天。超声检查:宫腔内见一单活胎,胎头轮廓完整,脑中线居中,双顶径3.6 cm。脊柱显示至胸腰段后回声中断,前凸侧弯。胎腹空虚,腹壁回声不连续,广泛缺损,肝脏及胃、肠管外翻,均暴露于腹腔外(图1)。肝与胎盘之间仅见两根脐血管相连,脐带过短,长度仅为3.3 cm,且无螺旋(图2)。双侧肱骨、股骨可见,股骨长1.9 cm。胎儿双下肢并拢僵直,双足外翻,动态观察无明显变化(图3)。胎盘附着于子宫后壁,成熟度0级。羊水最大深度2.1 cm。胎体表面可见条带样羊膜回声,胎儿部分结构位于羊膜与宫壁间(图4)。

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1588558681284685.png

图1脏器外翻(→),脊柱侧弯(↑)。图2肝(L)与胎盘(PL)之间见两条脐血管(1条动脉和1条静脉)相连,脐带极短。图3胎儿双下肢并拢僵直(粗箭头),双足外翻(细箭头)。图4胎儿部分结构位于羊膜与宫壁间,箭头所示条带样羊膜回声。

超声诊断:①中期妊娠,单胎,先露为头,超声估测孕周为16周5天。②胎儿多发形态异常,考虑肢体-体壁综合征(Limb body wall complex,LBWC)(体蒂异常)。孕妇引产下一死胎,病理证实:胎儿头面部未见异常,双上肢及手指均正常。脊柱腰段极度前凸侧弯;腹壁巨大缺损,肝脏、胃、肠管均位于腹腔外;肝与胎盘之间仅见两根过短的脐血管相连,为一条动脉和一条静脉,且无螺旋;双下肢并拢僵直,融为一体,双足外翻。

讨论

LBWC又称胎儿体蒂异常,是一种罕见的致死性畸形,其发生率在胎儿期约为1/(14000~42000),在孕早期发生率为1/7500,这种发生率的不同归因于早孕期产前筛查的广泛应用、孕早期体蒂异常胎儿高流产率和一经诊断LBWC立即终止妊娠。LBWC超声具有特征性,主要表现为广泛前侧腹壁裂、明显的脊柱侧凸、肢体畸形、颜面颅脑畸形、脐带极短等,可单独或合并存在,其特征性表现是羊膜绒毛膜不融合。

其发病机制尚不清楚,目前有3种假说,普遍接受的是胚胎广泛血管受损导致胚胎发育不全,从而导致腹壁闭合失败。但Streeter却认为是由三个胚层的异常包卷和胚外体腔的永久存在所致。也有人认为其是羊膜束带综合征的一种表现形式。有学者根据病理类型提出两种表型,即胎盘-颅面型和胎盘-体壁粘附型,前者一般多伴有颅面-胎盘粘附、上肢畸形和羊膜束带;后者不伴颅面畸形,多伴下肢畸形、脐带异常、腹壁-胎盘粘附等。本病例经产前超声与病理证实符合后者。

LBWC需与其它腹壁缺损的疾病相鉴别,如羊膜束带综合征、巨大腹裂、巨型脐膨出和泄殖腔外翻,虽然这几种畸形常常有腹壁缺损和内脏外翻,但是脐带往往正常,胎儿活动不受限。LBWC胎儿染色体核型大多正常,无性别和家族关联史,对于孕妇而言,再次妊娠风险不增加。本例胎儿体蒂异常合并双下肢并拢僵直、双足外翻,实属罕见。鉴于超声图像典型,不难诊断。产前超声诊断胎儿LBWC是安全有效的方法,早期准确诊断对及早指导临床干预、减轻孕妇痛苦、减少出生缺陷具有重要价值。

原始出处:

蔡畅,蔡爱露,杨泽宇.超声诊断胎儿肢体-体壁综合征合并下肢并拢僵直与足外翻1例[J].中国临床医学影像杂志,2019,30(02):148.

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