A case analysis of fetal limb-body wall syndrome
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摘要: 胎儿肢体-体壁综合征(LBWC)又称胎儿体蒂异常(BSA), 是胎儿前腹壁畸形中的一种, 是因前腹壁关闭失败所引起的。胎儿LBWC是复杂的畸形组合，可能存在腹裂、胸裂、肢体畸形、脊柱侧凸、颜面颅脑畸形、脐带短等多种畸形。LBWC发病率低，发病机制不明，预后极差，致死率极高，一经确诊应尽早终止妊娠，一般不会影响再次妊娠。产前超声对胎儿LBWC的早期诊断具有不可替代的作用，是目前首选的无创检查方法。胎儿LBWC通常不存在染色体异常，一般不建议常规做染色体检查，但是合理的产前咨询及产前诊断仍是必要的。本研究报道1例孕13+2周首次产前超声检查诊断为胎儿LBWC的病例并进行相关文献复习。Abstract: Fetal limb-body wall syndrome (LBWC) is one of the malformations of fetal anterior abdominal wall, also known as fetal body stalk anomaly (BSA), which is caused by the failure of anterior abdominal wall closure. LBWC is a complex malformation combination, which may have many kinds of deformities, such as abdominal fissure, chest fissure, limb deformity, scoliosis, facial craniocerebral deformity, short umbilical cord and so on. Incidence of LBWC is low, the pathogenesis is unknown, the prognosis is very poor, and the fatality rate is very high. Once diagnosed, the pregnancy should be terminated as soon as possible, which generally will not affect the second pregnancy. Prenatal ultrasound plays an irreplaceable role in the early diagnosis of fetal LBWC, and it is the first choice for non-invasive examination at present. There is usually no chromosome abnormality in fetal LBWC, so routine chromosome examination is not recommended, but reasonable prenatal counseling and prenatal diagnosis are still necessary. This study reported a case of diagnosed fetal LBWC by prenatal ultrasound at gestational week of 13+2 and reviewed the related literature.
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Keywords:
- fetus /
- fetal abnormality /
- fetal malformation /
- limb-body wall complex /
- body stalk anomaly
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