[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)].

Q4 Medicine

中华医学遗传学杂志 Pub Date : 2025-07-10 DOI:10.3760/cma.j.cn511374-20250517-00303

Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lingqian Wu, Qingqing Wu

{"title":"[Expert consensus on the prenatal ultrasound screening, diagnosis, and genetic counseling for Limb developmental defects (2025 Edition)].","authors":"Obstetrics And Gynecology Ultrasound Group Ultrasound Branch Of Chinese Medical Association, Clinical Genetics Group Medical Geneticist Branch Chinese Medical Doctor Association, Group Of Genetic Disease Prevention And Control Birth Defect Prevention And Control Committee Chinese Society Of Preventive Medicine, Lingqian Wu, Qingqing Wu","doi":"10.3760/cma.j.cn511374-20250517-00303","DOIUrl":null,"url":null,"abstract":"<p><p>Fetal limb development defects have a relatively high incidence among congenital skeletal development abnormalities, for which genetic variations are important causes. Standardized prenatal ultrasound screening, diagnosis, and genetic testing and counseling play a significant role in the early diagnosis, intervention, and treatment of limb development defects. This consensus provides practical operation methods for prenatal ultrasound screening and diagnosis of major long bones of the limbs (femur, tibia/fibula, humerus, ulna/radius) defects and complete absence of hands and feet, in addition with standardized guidance for the detection path of genetic variations and genetic counseling, with an aim to provide a systematic reference for prenatal diagnosis and counseling of fetal limb development defects in clinical practice.</p>","PeriodicalId":39319,"journal":{"name":"中华医学遗传学杂志","volume":"42 7","pages":"769-778"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"中华医学遗传学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3760/cma.j.cn511374-20250517-00303","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

Abstract

Fetal limb development defects have a relatively high incidence among congenital skeletal development abnormalities, for which genetic variations are important causes. Standardized prenatal ultrasound screening, diagnosis, and genetic testing and counseling play a significant role in the early diagnosis, intervention, and treatment of limb development defects. This consensus provides practical operation methods for prenatal ultrasound screening and diagnosis of major long bones of the limbs (femur, tibia/fibula, humerus, ulna/radius) defects and complete absence of hands and feet, in addition with standardized guidance for the detection path of genetic variations and genetic counseling, with an aim to provide a systematic reference for prenatal diagnosis and counseling of fetal limb development defects in clinical practice.

查看原文本刊更多论文

【肢体发育缺陷产前超声筛查、诊断及遗传咨询专家共识（2025版）】。

胎儿肢体发育缺陷在先天性骨骼发育异常中发病率较高，遗传变异是其重要原因。标准化的产前超声筛查、诊断、基因检测和咨询对肢体发育缺陷的早期诊断、干预和治疗具有重要作用。本共识为四肢主要长骨（股骨、胫骨/腓骨、肱骨、尺骨/桡骨）缺陷和手足完全缺失的产前超声筛查和诊断提供了实用的操作方法，并对遗传变异的检测路径和遗传咨询进行了规范化指导，旨在为临床胎儿肢体发育缺陷的产前诊断和咨询提供系统的参考。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

中华医学遗传学杂志 Medicine-Medicine (all)

CiteScore

0.50

自引率

0.00%

发文量

9521

期刊介绍： Chinese Journal of Medical Genetics is a medical journal, founded in 1984, under the supervision of the China Association for Science and Technology, sponsored by the Chinese Medical Association (hosted by Sichuan University), and is now a monthly magazine, which attaches importance to academic orientation, adheres to the scientific, scholarly, advanced, and innovative, and has a certain degree of influence in the industry. Chinese Journal of Medical Genetics is a journal of Peking University, and is now included in Peking University Journal (Chinese Journal of Humanities and Social Sciences), CSCD Source Journals of Chinese Science Citation Database (with extended version), Statistical Source Journals (China Science and Technology Dissertation Outstanding Journals), Zhi.com (in Chinese), Wipu (in Chinese), Wanfang (in Chinese), CA Chemical Abstracts (U.S.), JST (Japan Science and Technology Science and Technology), and JST (Japan Science and Technology Science and Technology Research Center). ), JST (Japan Science and Technology Agency), Pж (AJ) Abstracts Journal (Russia), Copernicus Index (Poland), Cambridge Scientific Abstracts, Abstracts and Citation Database, Abstracts Magazine, Medical Abstracts, and so on.