• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

产前诊断中女性生殖器官畸形的临床表现。

Clinical spectrum of female genital malformations in prenatal diagnosis.

机构信息

Department of Obstetrics and Gynecology, University Hospital of Cologne, Kerpener Str. 34, 50924, Cologne, Germany.

Department of Obstetrics and Prenatal Medicine, University of Bonn, Bonn, Germany.

出版信息

Arch Gynecol Obstet. 2022 Dec;306(6):1847-1862. doi: 10.1007/s00404-022-06441-3. Epub 2022 Feb 27.

DOI:10.1007/s00404-022-06441-3
PMID:35220478
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9633498/
Abstract

INTRODUCTION

Fetal genital malformations represent a rare and heterogeneous group of congenital malformations of the disorders of sexual development (DSD) spectrum.

METHODS

A thorough literature review on the main topics in the prenatal approach towards DSD was conducted.

RESULTS

First, a thorough overview on prenatal characteristics of the most common fetal genital malformations of ovaries, uterus and external genitalia, and second, a standardized approach for differential diagnosis in the presence of direct and indirect prenatal signs of DSDs.

CONCLUSIONS

This review is mainly directed towards the aspects of female genital malformations with  aspects of male DSD explained as well to aid in the prenatal differential diagnosis.

摘要

简介

胎儿生殖器畸形是性发育障碍（DSD）谱系中一组罕见且异质性的先天性畸形。

方法

对 DSD 产前方法的主要课题进行了全面的文献回顾。

结果

首先，全面概述了最常见的胎儿卵巢、子宫和外生殖器生殖器畸形的产前特征，其次，在存在 DSD 的直接和间接产前迹象的情况下，对鉴别诊断进行了标准化处理。

结论

本综述主要针对女性生殖器畸形的各个方面，同时也解释了男性 DSD 的各个方面，以帮助产前鉴别诊断。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/0803fb4fac25/404_2022_6441_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/94e7eaa11434/404_2022_6441_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/d73cc84e4635/404_2022_6441_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/96dde9b0adda/404_2022_6441_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/2465293bca2f/404_2022_6441_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/fb0e5942f315/404_2022_6441_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/0803fb4fac25/404_2022_6441_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/94e7eaa11434/404_2022_6441_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/d73cc84e4635/404_2022_6441_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/96dde9b0adda/404_2022_6441_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/2465293bca2f/404_2022_6441_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/fb0e5942f315/404_2022_6441_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/697c/9633498/0803fb4fac25/404_2022_6441_Fig6_HTML.jpg

相似文献

1
Clinical spectrum of female genital malformations in prenatal diagnosis.产前诊断中女性生殖器官畸形的临床表现。
Arch Gynecol Obstet. 2022 Dec;306(6):1847-1862. doi: 10.1007/s00404-022-06441-3. Epub 2022 Feb 27.
2
Prenatal Findings in Postnatal Cases of Disorders of Sex Development: Experience from a Tertiary-Specialized Center in Brazil.性发育障碍患儿的产后产前发现：巴西一家三级专科中心的经验
Fetal Diagn Ther. 2024;51(1):49-54. doi: 10.1159/000534401. Epub 2023 Oct 4.
3
Imaging in fetal genital anomalies.胎儿生殖器异常的影像学表现。
Eur J Obstet Gynecol Reprod Biol. 2023 Apr;283:13-24. doi: 10.1016/j.ejogrb.2023.01.035. Epub 2023 Feb 2.
4
How accurate is the prenatal diagnosis of abnormal genitalia?产前对生殖器异常的诊断准确性如何？
J Urol. 2000 Sep;164(3 Pt 2):984-7. doi: 10.1097/00005392-200009020-00016.
5
Prenatal imaging of genital defects: clinical spectrum and predictive factors for severe forms.生殖器缺陷的产前影像学：临床谱及严重形式的预测因素。
BJU Int. 2019 Nov;124(5):876-882. doi: 10.1111/bju.14714. Epub 2019 Mar 18.
6
Prenatal and postnatal diagnosis of congenital hymen prolapse: A case report.先天性处女膜突出的产前和产后诊断：一例报告。
Medicine (Baltimore). 2023 Oct 27;102(43):e35700. doi: 10.1097/MD.0000000000035700.
7
Sonographic imaging and differential diagnosis of fetal perineal masses.胎儿会阴肿物的超声成像及鉴别诊断
Ginekol Pol. 2023;94(1):46-50. doi: 10.5603/GP.a2022.0157. Epub 2023 Jan 4.
8
Prenatal next-generation sequencing in the fetus with congenital malformations: how can we improve clinical utility?胎儿先天性畸形的产前下一代测序：如何提高临床实用性？
Am J Obstet Gynecol MFM. 2023 May;5(5):100923. doi: 10.1016/j.ajogmf.2023.100923. Epub 2023 Mar 9.
9
Prenatal environmental risk factors for genital malformations in a population of 1442 French male newborns: a nested case-control study.1442 例法国男性新生儿中生殖器畸形的产前环境危险因素：巢式病例对照研究。
Hum Reprod. 2011 Nov;26(11):3155-62. doi: 10.1093/humrep/der283. Epub 2011 Aug 25.
10
Sonographic fetal sex determination.超声检查确定胎儿性别
Obstet Gynecol Surv. 2009 Jan;64(1):50-7. doi: 10.1097/OGX.0b013e318193299b.

引用本文的文献

1
Clinical analysis of 78 patients with nonclassical 21-hydroxylase deficiency.78 例非典型 21-羟化酶缺乏症患者的临床分析。
Arch Gynecol Obstet. 2023 Sep;308(3):871-882. doi: 10.1007/s00404-023-06946-5. Epub 2023 Feb 11.

本文引用的文献

1
Diagnosis and Therapy of Female Genital Malformations (Part 2). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).女性生殖器畸形的诊断与治疗（第2部分）。德国妇科和产科学会、奥地利妇科和产科学会及瑞士妇科和产科学会指南（S2k级别，德国医学科学院注册编号015/052，2019年5月）
Geburtshilfe Frauenheilkd. 2021 Dec 8;81(12):1329-1347. doi: 10.1055/a-1471-4988. eCollection 2021 Dec.
2
Diagnosis and Therapy of Female Genital Malformations (Part 1). Guideline of the DGGG, OEGGG and SGGG (S2k Level, AWMF Registry Number 015/052, May 2019).女性生殖器畸形的诊断与治疗（第1部分）。德国妇科与产科学会（DGGG）、奥地利妇科与产科学会（OEGGG）和瑞士妇科与产科学会（SGGG）指南（S2k级别，德国医学质量与效率委员会登记号015/052，2019年5月）
Geburtshilfe Frauenheilkd. 2021 Dec 8;81(12):1307-1328. doi: 10.1055/a-1471-4781. eCollection 2021 Dec.
3
Fetal sex prediction measuring yolk sac size and yolk sac-fetal pole distance in the first trimester via ultrasound screening.经超声筛查测量妊娠早期卵黄囊大小和卵黄囊-胎儿茎长度预测胎儿性别。
J Ultrasound. 2021 Dec;24(4):489-492. doi: 10.1007/s40477-020-00516-0. Epub 2020 Nov 25.
4
Analysis of cell-free DNA in a consecutive series of 13,607 routine cases for the detection of fetal chromosomal aneuploidies in a single center in Germany.对德国单一中心 13607 例常规病例进行游离胎儿 DNA 分析，以检测胎儿染色体非整倍体。
Arch Gynecol Obstet. 2021 Jun;303(6):1407-1414. doi: 10.1007/s00404-020-05856-0. Epub 2020 Nov 5.
5
Confirmation rate of cell free DNA screening for sex chromosomal abnormalities according to the method of confirmatory testing.根据确证检测方法，游离 DNA 筛查性染色体异常的确认率。
Prenat Diagn. 2021 Sep;41(10):1258-1263. doi: 10.1002/pd.5814. Epub 2020 Sep 2.
6
Aberrant DNA methylation in the PAX2 promoter is associated with Müllerian duct anomalies.PAX2 启动子中的异常 DNA 甲基化与 Müllerian 管异常有关。
Arch Gynecol Obstet. 2020 Jun;301(6):1455-1461. doi: 10.1007/s00404-020-05539-w. Epub 2020 Apr 18.
7
Fetal Sex Results of Noninvasive Prenatal Testing and Differences With Ultrasonography.非侵入性产前检测的胎儿性别结果与超声检查的差异。
Obstet Gynecol. 2020 May;135(5):1198-1206. doi: 10.1097/AOG.0000000000003791.
8
Endocrine-Disrupting Chemicals in Human Fetal Growth.人类胎儿生长中的内分泌干扰化学品。
Int J Mol Sci. 2020 Feb 20;21(4):1430. doi: 10.3390/ijms21041430.
9
Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.史密斯-连姆利-奥皮茨综合征 - 具有特定内在畸形模式的胎儿表型。
Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16.
10
46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.46,XX DSD 由于类固醇生成中单基因疾病中的雄激素过多症：遗传、生化和临床特征。
Int J Mol Sci. 2019 Sep 17;20(18):4605. doi: 10.3390/ijms20184605.