PDF(Pubmed)
Abstract：
BACKGROUND: Sirenomelia or sirenomelia sequence, also known as mermaid syndrome, is a rare congenital anomaly involving the caudal region of the body. The syndrome is characterized by partial or complete fusion of lower extremities, renal agenesis, absent urinary tract, ambiguous external genitalia, imperforate anus, and single umbilical artery. Sirenomelia is often associated with several visceral congenital malformations, rendering it invariably incompatible with extrauterine life.
METHODS: We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.
CONCLUSIONS: Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.
METHODS: We present the case of 22-year-old Black African woman who delivered a term newborn by caesarean section at a gestation age of 37 weeks due to obstructed labor with fetal distress. The newborn was a fresh stillbirth weighing 2100 g and had fusion of the lower extremities, a single upper limb, ambiguous genitalia, imperforate anus, and a cleft lip. The mother had made only two prenatal visits, at which she was found to be normotensive and normoglycemic. She was not screened for routine fetomaternal infections and missed supplementation for folic acid during the critical first trimester. She did not undergo any obstetric ultrasonography. The parents of the newborn were not close relatives and there was no family history of consanguinity. Further genetic testing was not performed due to lack of laboratory capacity, and post mortem examination was not permitted due to cultural taboo and restrictions relating to handling of deceased newborns.
CONCLUSIONS: Sirenomelia is a rare congenital malformation with very poor prognosis. Specific interventions during pre-conception and early prenatal care are critical in the prevention of specific congenital anomalies. Early obstetric ultrasonography is invaluable for diagnosis of sirenomelia as well as counseling for possible termination of pregnancy.
摘要：
背景：Sirenomelia或sirenomelia序列，也被称为美人鱼综合症，是一种罕见的先天性异常，涉及身体的尾部区域。该综合征的特征是下肢部分或完全融合，肾发育不全,尿路缺失，模棱两可的外生殖器,肛门无孔,和单脐动脉.Sirenomelia通常与几种内脏先天性畸形有关，使它总是与子宫外生活不相容。
方法：我们介绍了一个22岁的非洲黑人妇女的案例，该妇女因胎儿窘迫而在37周胎龄时通过剖腹产分娩了足月新生儿。新生儿为新鲜死胎，体重2100克，下肢融合，一条上肢,模棱两可的生殖器,肛门无孔,还有唇裂.这位母亲只做了两次产前检查，当时她被发现血压正常，血糖正常。在关键的孕早期，她没有进行常规的胎儿感染筛查，也没有补充叶酸。她没有接受任何产科超声检查。新生儿的父母不是近亲，也没有血缘关系的家族史。由于缺乏实验室能力，没有进行进一步的基因检测，由于文化禁忌和处理死亡新生儿的限制，不允许验尸。
结论：Sirenomelia是一种罕见的先天性畸形，预后极差。在孕前和早期产前护理期间的特定干预措施对于预防特定的先天性异常至关重要。早期产科超声检查对于诊断sirenomelia以及可能终止妊娠的咨询是非常宝贵的。
方法：我们介绍了一个22岁的非洲黑人妇女的案例，该妇女因胎儿窘迫而在37周胎龄时通过剖腹产分娩了足月新生儿。新生儿为新鲜死胎，体重2100克，下肢融合，一条上肢,模棱两可的生殖器,肛门无孔,还有唇裂.这位母亲只做了两次产前检查，当时她被发现血压正常，血糖正常。在关键的孕早期，她没有进行常规的胎儿感染筛查，也没有补充叶酸。她没有接受任何产科超声检查。新生儿的父母不是近亲，也没有血缘关系的家族史。由于缺乏实验室能力，没有进行进一步的基因检测，由于文化禁忌和处理死亡新生儿的限制，不允许验尸。
结论：Sirenomelia是一种罕见的先天性畸形，预后极差。在孕前和早期产前护理期间的特定干预措施对于预防特定的先天性异常至关重要。早期产科超声检查对于诊断sirenomelia以及可能终止妊娠的咨询是非常宝贵的。
