Xu Tingting, Wang Xiaodong, Luo Hong, Yu Haiyan
Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Sichuan.
Medicine (Baltimore). 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672.
Sirenomelia is a very rare congenital malformation and characterized by fused lower extremities, oligohydramnios, renal agenesis, absent urinary tract and external genitalia, single umbilical artery, and imperforate anus. Ultrasonography is an optimal method for prenatal screening and diagnosis of sirenomelia. The incidence of sirenomelia in the twin pregnancy is extremely low.
We reported a case of 1 twin with sirenomelia in dichorionic-diamniotic twin pregnancy after in vitro fertilization and embryo transfer.
The sirenomelia twin was diagnosed at the 2nd trimester by ultrasonic examination and complicated with oligohydramnios and a single umbilical artery, another twin was normal.
A regular and careful antenatal care was conducted. The parents refused to examine the chromosome of sirenomelia twin, and the chromosomal microarray analysis of the amniotic fluid sample was only achieved in the normal anatomy twin after extensively counseled by the multi-disciplinary team.
At 34+2 gestational weeks, the demise of the malformed twin occurred, while fetal heart rate monitoring of the normal twin was abnormal, and an emergency cesarean section was performed. A healthy male baby was delivered with Apgar scores of 10 and 10 at 1 and 5 minutes, respectively. The mother and the baby were followed up and are in good health until now.
Sirenomelia is a lethal condition in the perinatal period. Early antenatal diagnosis is very important. Voluntary selective termination of sirenomelia 1 in twin pregnancy may be advised. Expecting parents should be counseled by the multidisciplinary team about the management and prognosis of the sirenomelia.
联体双胎是一种非常罕见的先天性畸形,其特征为下肢融合、羊水过少、肾缺如、尿路和外生殖器缺如、单脐动脉以及肛门闭锁。超声检查是产前筛查和诊断联体双胎的最佳方法。联体双胎在双胎妊娠中的发生率极低。
我们报告了1例体外受精胚胎移植后双绒毛膜双羊膜囊双胎妊娠中1个胎儿患联体双胎的病例。
联体双胎胎儿在孕中期通过超声检查确诊,并发羊水过少和单脐动脉,另一个胎儿正常。
进行了规律且仔细的产前检查。联体双胎胎儿的父母拒绝检查其染色体,在多学科团队广泛咨询后,仅对解剖结构正常的胎儿进行了羊水样本的染色体微阵列分析。
孕34+2周时,畸形胎儿死亡,而正常胎儿的胎心监护异常,遂行急诊剖宫产。娩出一名健康男婴,1分钟和5分钟Apgar评分分别为10分和10分。对母亲和婴儿进行了随访,至今健康状况良好。
联体双胎在围产期是一种致死性疾病。早期产前诊断非常重要。对于双胎妊娠中患联体双胎的一方,可建议自愿选择终止妊娠。多学科团队应向准父母提供关于联体双胎处理和预后的咨询。