Suppr超能文献

一个土耳其家庭中囊性纤维化的产前诊断。

Prenatal diagnosis of cystic fibrosis in a Turkish family.

作者信息

Yilmaz E, Ozgüç M, Coşkun T, Beksaç S, Cakar N, Ayter S, Ozalp I

机构信息

Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

出版信息

Turk J Pediatr. 1991 Apr-Jun;33(2):79-84.

PMID:1844185
Abstract

Prenatal diagnosis of cystic fibrosis (CF) was made in a Turkish family whose first born child was diagnosed at necropsy as having CF. Two consecutive pregnancies followed. The fetus of the second pregnancy was diagnosed as having CF by the microvillar enzyme assay and was aborted. The diagnosis was verified by the DNA polymerase chain reaction analysis using chorionic villi from the abortus. In the third pregnancy, amniocentesis was performed in the 17th week, and KM19 polymorphism linked to CF was used to assess the status of the fetus. Since the fetus was determined to be a carrier, the family was advised to continue with the pregnancy.

摘要

在一个土耳其家庭中对囊性纤维化(CF)进行了产前诊断,该家庭的第一个孩子在尸检时被诊断为患有CF。随后又有两次连续妊娠。第二次妊娠的胎儿通过微绒毛酶测定被诊断为患有CF并终止妊娠。通过对流产胎儿的绒毛膜进行DNA聚合酶链反应分析验证了诊断结果。在第三次妊娠中,于第17周进行了羊膜穿刺术,并使用与CF相关的KM19多态性来评估胎儿状况。由于确定胎儿为携带者,建议该家庭继续妊娠。

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