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美人鱼综合征的产前诊断。

Prenatal diagnosis of sirenomelia.

作者信息

Sirtori M, Ghidini A, Romero R, Hobbins J C

机构信息

Department of Obstetrics and Gynecology, Yale University School of Medicine, New Haven, Connecticut 06510.

出版信息

J Ultrasound Med. 1989 Feb;8(2):83-8. doi: 10.7863/jum.1989.8.2.83.

DOI:10.7863/jum.1989.8.2.83
PMID:2651695
Abstract

Prenatal sonographic findings of sirenomelia (or mermaid fetus) were retrospectively reviewed in eleven proven cases. Sonography showed oligohydramnios in all the cases, five (45%) of which had severe oligohydramnios that limited prenatal diagnosis by poor visibility. In five cases (45%), sirenomelia was correctly diagnosed by ultrasound; in the remainder, only bilateral renal agenesis was identified. All eleven fetuses had other associated malformations: congenital heart defects (4), skeletal deformities (10), and abdominal wall defects (4). Death resulted from termination of pregnancy in six cases and stillbirth in three cases. Two newborns died at 24 and 36 hours of neonatal life, respectively. We concluded that some cases of sirenomelia can be detected on prenatal sonograms by demonstration of a single lower extremity, oligohydramnios, and bilateral renal agenesis. Sirenomelia is a lethal condition and can be detectable in the second trimester of pregnancy, allowing for termination of pregnancy.

摘要

对11例确诊的并腿畸形(或美人鱼胎儿)的产前超声检查结果进行了回顾性分析。超声检查显示所有病例均有羊水过少,其中5例(45%)有严重羊水过少,因视野不佳限制了产前诊断。5例(45%)通过超声正确诊断为并腿畸形;其余病例仅发现双侧肾缺如。所有11例胎儿均有其他相关畸形:先天性心脏缺陷(4例)、骨骼畸形(10例)和腹壁缺陷(4例)。6例因终止妊娠死亡,3例死产。2例新生儿分别在出生后24小时和36小时死亡。我们得出结论,一些并腿畸形病例可通过产前超声检查发现单一下肢、羊水过少和双侧肾缺如而得以诊断。并腿畸形是一种致命疾病,在妊娠中期即可检测到,从而可进行终止妊娠。

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1
Prenatal diagnosis of sirenomelia.美人鱼综合征的产前诊断。
J Ultrasound Med. 1989 Feb;8(2):83-8. doi: 10.7863/jum.1989.8.2.83.
2
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[Prenatal diagnosis of sirenomelia].[并腿畸形的产前诊断]
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引用本文的文献

1
Prenatal sirenomelia diagnosis in the first trimester: A case report and literature review.孕早期先天性并腿畸形的产前诊断:一例病例报告及文献综述
Clin Case Rep. 2023 Nov 28;11(12):e8146. doi: 10.1002/ccr3.8146. eCollection 2023 Dec.
2
Prenatal Sonographic Image of Sirenomelia with Anencephaly and Craniorachischisis Totalis.合并无脑儿和完全性脊柱裂的并腿畸形产前超声图像。
Case Rep Obstet Gynecol. 2018 Nov 28;2018:7058253. doi: 10.1155/2018/7058253. eCollection 2018.
3
A Case of Sirenomelia Associated with Hypoplastic Left Heart with a Healthy Co-Twin: A Rare Entity.
一例合并左心发育不全的美人鱼综合征病例及健康的双胎之一:一种罕见情况。
Case Rep Pediatr. 2018 Jun 24;2018:9361745. doi: 10.1155/2018/9361745. eCollection 2018.
4
Conjoined legs: Sirenomelia or caudal regression syndrome?联体下肢:美人鱼综合征还是尾部退化综合征?
Indian J Orthop. 2013 Jul;47(4):413-6. doi: 10.4103/0019-5413.114936.
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A prenatally diagnosed case of sirenomelia with dextrocardia and omphalocele.一例产前诊断为并腿畸形伴右位心和脐膨出的病例。
J Prenat Med. 2009 Jul;3(3):42-3.
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The sirenomelia sequence: a case history.人鱼序列征:一例病史
Clin Med Insights Case Rep. 2010;3:41-9. doi: 10.4137/ccrep.s5347. Epub 2010 Aug 13.
7
Sirenomelia--sympus unipus (mermaid deformity).并腿畸形——单脐(美人鱼畸形)。
Pediatr Radiol. 2010 Dec;40 Suppl 1:S14. doi: 10.1007/s00247-010-1802-8. Epub 2010 Aug 13.
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Sirenomelia (symelia dipus).
Pediatr Radiol. 2005 Sep;35(9):931-3. doi: 10.1007/s00247-005-1486-7. Epub 2005 May 13.
9
Fetal musculoskeletal malformations with a poor outcome: ultrasonographic, pathologic, and radiographic findings.预后不良的胎儿肌肉骨骼畸形:超声、病理及影像学表现
Korean J Radiol. 2002 Apr-Jun;3(2):113-24. doi: 10.3348/kjr.2002.3.2.113.
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Cebocephaly, alobar holoprosencephaly, spina bifida, and sirenomelia in a stillbirth.死产儿出现的鼻前脑无裂畸形、叶状全前脑畸形、脊柱裂和并腿畸形。
J Med Genet. 1997 Mar;34(3):252-5. doi: 10.1136/jmg.34.3.252.