Center of Reproductive Medicine and Center of Prenatal Diagnosis, The First Hospital of Jilin University, Changchun, Jilin, China.
Department of Obstetrics, The First Hospital of Jilin University, Changchun, Jilin, China.
J Int Med Res. 2020 Dec;48(12):300060520980210. doi: 10.1177/0300060520980210.
Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks' gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.
体干异常是一种罕见的异常，其特征为腹壁缺损伴内脏脱出、严重的脊柱后凸侧凸和非常短或缺失的脐带。心外异位（EC）是一种罕见的致命异常，其特征为心脏完全或部分位于胸腔外。一位 28 岁健康的初产妇被转至我科，在 12 周妊娠时进行颈项透明层厚度扫描。该扫描显示出典型的体干异常和 EC 特征。鉴于胎儿的致命状况，患者选择终止妊娠。体干异常，尤其是伴有 EC 的体干异常，对受累胎儿通常是致命的。应建议选择性终止妊娠，以避免妊娠期间可能出现的并发症。此外，应告知未来的父母，因为这种情况与染色体异常无关，所以没有增加复发的风险。
