Suppr超能文献

双胎妊娠中的并腿畸形:一例病例报告及文献综述

Sirenomelia in twin pregnancy: A case report and literature review.

作者信息

Xu Tingting, Wang Xiaodong, Luo Hong, Yu Haiyan

机构信息

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.

出版信息

Medicine (Baltimore). 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672.

Abstract

RATIONALE

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.

PATIENT CONCERNS

We reported a case of 1 twin with sirenomelia in dichorionic-diamniotic twin pregnancy after in vitro fertilization and embryo transfer.

DIAGNOSES

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.

INTERVENTIONS

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.

OUTCOMES

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.

CONCLUSION

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.

摘要

理论依据

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。

患者情况

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。

诊断

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。

干预措施

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。

结果

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。

结论

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b0cf/6320003/aba512e1922a/medi-97-e13672-g001.jpg

相似文献

1
Sirenomelia in twin pregnancy: A case report and literature review.
Medicine (Baltimore). 2018 Dec;97(51):e13672. doi: 10.1097/MD.0000000000013672.
2
Dichorionic twin pregnancy with sirenomelia and chromosomal anomaly in 1 fetus: A case report.
Medicine (Baltimore). 2021 Jan 8;100(1):e24229. doi: 10.1097/MD.0000000000024229.
3
Sirenomelia in a monoamniotic twin: a case report.
J Reprod Med. 2006 Feb;51(2):138-40.
4
Two cases of a fetus with sirenomelia sequence.
Congenit Anom (Kyoto). 2005 Sep;45(3):93-5. doi: 10.1111/j.1741-4520.2005.00074.x.
5
[Sirenomelia--a rare cause of an oligoanhydramnion in the second trimester--a case report].
Z Geburtshilfe Neonatol. 2012 Feb;216(1):34-6. doi: 10.1055/s-0031-1298030. Epub 2012 Feb 13.
6
Sirenomelia or mermaid syndrome with a cleft lip in a Tanzanian newborn: a case report.
J Med Case Rep. 2024 May 6;18(1):224. doi: 10.1186/s13256-024-04549-5.
7
Mermaid syndrome: A case report in Somalia.
Ann Med Surg (Lond). 2022 Mar 29;76:103533. doi: 10.1016/j.amsu.2022.103533. eCollection 2022 Apr.
8
Ultrasound in twin pregnancies.
J Obstet Gynaecol Can. 2011 Jun;33(6):643-656. doi: 10.1016/S1701-2163(16)34916-7.
9
[Prenatal diagnosis of sirenomelia].
Zentralbl Gynakol. 1999;121(2):95-7.

引用本文的文献

1
Mermaid Syndrome: Navigating the Challenges of a Rare Congenital Disorder.
Cureus. 2024 Oct 12;16(10):e71317. doi: 10.7759/cureus.71317. eCollection 2024 Oct.
2
Mermaid syndrome: A case report in Somalia.
Ann Med Surg (Lond). 2022 Mar 29;76:103533. doi: 10.1016/j.amsu.2022.103533. eCollection 2022 Apr.
3
NAD+ deficiency in human congenital malformations and miscarriage: A new model of pleiotropy.
Am J Med Genet A. 2022 Sep;188(9):2834-2849. doi: 10.1002/ajmg.a.62764. Epub 2022 Apr 29.
4
Successful Expectant Management of the Anomalous Fetus with Sirenomelia in Twin Pregnancy: A Case Report and Literature Review.
Int Med Case Rep J. 2021 Apr 9;14:229-232. doi: 10.2147/IMCRJ.S300318. eCollection 2021.

本文引用的文献

1
A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity.
Case Rep Pediatr. 2018 Jun 24;2018:9361745. doi: 10.1155/2018/9361745. eCollection 2018.
2
Sirenomelia associated with Hypoplastic Left Heart in a Newborn.
Balkan J Med Genet. 2017 Jun 30;20(1):91-94. doi: 10.1515/bjmg-2017-0001.
3
Sirenomelia type VI (sympus apus) in one of dizygotic twins at Chiang Mai University Hospital.
BMJ Case Rep. 2015 May 14;2015:bcr2014208501. doi: 10.1136/bcr-2014-208501.
4
Sirenomelia: two cases in Cali, Colombia.
BMJ Case Rep. 2015 Jan 30;2015:bcr2014207543. doi: 10.1136/bcr-2014-207543.
5
Diagnosis of sirenomelia in the first trimester.
J Clin Ultrasound. 2014 Jul-Aug;42(6):355-9. doi: 10.1002/jcu.22116. Epub 2013 Nov 27.
7
Sirenomelia phenotype in bmp7;shh compound mutants: a novel experimental model for studies of caudal body malformations.
PLoS One. 2012;7(9):e44962. doi: 10.1371/journal.pone.0044962. Epub 2012 Sep 17.
8
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
Congenit Anom (Kyoto). 2012 Jun;52(2):106-10. doi: 10.1111/j.1741-4520.2011.00326.x.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验