Shijing Song1,2, Jingjing Wang1,2, Jijing Han1,2, Yinghua Xuan1,2, Wenxue Zhi1,2, Qingqing Wu3,4. 1. Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, No.251 Yaojiayuan Road, Chaoyang district, Beijing, 100026, P. R. China. 2. Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China. 3. Ultrasound Department, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, No.251 Yaojiayuan Road, Chaoyang district, Beijing, 100026, P. R. China. qingqingwu@ccmu.edu.cn. 4. Beijing Maternal and Child Health Care Hospital, Beijing, P. R. China. qingqingwu@ccmu.edu.cn.
Abstract
BACKGROUND: 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. CASE PRESENTATION: 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. DISCUSSION AND CONCLUSIONS: 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.
BACKGROUND: 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. CASE PRESENTATION: 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. DISCUSSION AND CONCLUSIONS: 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.
Authors: A Dall'Asta; G Grisolia; M Nanni; N Volpe; G B L Schera; T Frusca; T Ghi Journal: Ultrasound Obstet Gynecol Date: 2019-11-04 Impact factor: 7.299
Authors: D Dargan; A McMorrow; T W Bourke; W A McCallion; A M Verner; J Lyons; R S McConnell; C T Lundy; N W A Eames Journal: Int J Surg Case Rep Date: 2013-02-27