Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, No.251 Yaojiayuan Road, Chaoyang district, Beijing, 100026, P. R. China.
Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China.
BMC Pregnancy Childbirth. 2022 Mar 4;22(1):181. doi: 10.1186/s12884-022-04477-6.
Serpentine-like syndrome (SLS) is a rare foetal abnormality, characterized by brachioesophagus, secondary intrathoracic stomach and vertebral deformity. Herein, we report a case of SLS diagnosed based on imaging, genetic examination and autopsy findings.
From the 19th to 23rd weeks of gestation, the foetus presented with brachioesophagus, secondary intrathoracic stomach, intrathoracic spleen with poly-spleen malformation, spinal deformity and diaphragm dysplasia, and some abdominal organs were partly located in the thoracic cavity. After extensive counselling, the couple opted to terminate the pregnancy. Whole genome sequencing and autopsy were performed. Then, the foetus was diagnosed with SLS.
SLS is characterized by multiorgan deformities and is associated with poor prognosis. Multiorgan deformities can be detected on prenatal sonography using three-dimensional ultrasound technology.
蛇形综合征（SLS）是一种罕见的胎儿异常，其特征为臂食管、继发性胸腔内胃和脊柱畸形。本文报道了一例基于影像学、遗传学检查和尸检结果诊断的 SLS 病例。
在妊娠 19 至 23 周时，胎儿出现臂食管、继发性胸腔内胃、胸腔内脾多发脾畸形、脊柱畸形和横膈膜发育不良，部分腹部器官位于胸腔内。经过广泛咨询，夫妇选择终止妊娠。进行了全基因组测序和尸检。然后，胎儿被诊断为 SLS。
SLS 的特征为多器官畸形，且预后不良。多器官畸形可通过三维超声技术在产前超声检查中发现。
