Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel
{"title":"利用循环滋养细胞进行囊性纤维化的无创产前筛查:检测50种最常见的致病变异","authors":"Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel","doi":"10.1097/01.ogx.0000947140.57660.b6","DOIUrl":null,"url":null,"abstract":"(Abstracted from Prenat Diagn 2023;43:3–13) Autosomal recessive disorders can have a significant impact on quality of life for parents and individuals. One of the most common but also potentially severe of these disorders is cystic fibrosis (CF), a disorder that causes pulmonary and pancreatic dysfunction.","PeriodicalId":19409,"journal":{"name":"Obstetrical & Gynecological Survey","volume":null,"pages":null},"PeriodicalIF":4.3000,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants\",\"authors\":\"Line Dahl Jeppesen, Dorte Launholt Lildballe, Lotte Hatt, Jakob Hedegaard, Ripudaman Singh, Christian Liebst Frisk Toft, Palle Schelde, Anders Sune Pedersen, Michael Knudsen, Ida Vogel\",\"doi\":\"10.1097/01.ogx.0000947140.57660.b6\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"(Abstracted from Prenat Diagn 2023;43:3–13) Autosomal recessive disorders can have a significant impact on quality of life for parents and individuals. One of the most common but also potentially severe of these disorders is cystic fibrosis (CF), a disorder that causes pulmonary and pancreatic dysfunction.\",\"PeriodicalId\":19409,\"journal\":{\"name\":\"Obstetrical & Gynecological Survey\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":4.3000,\"publicationDate\":\"2023-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Obstetrical & Gynecological Survey\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/01.ogx.0000947140.57660.b6\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"OBSTETRICS & GYNECOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Obstetrical & Gynecological Survey","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/01.ogx.0000947140.57660.b6","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"OBSTETRICS & GYNECOLOGY","Score":null,"Total":0}
Noninvasive Prenatal Screening for Cystic Fibrosis Using Circulating Trophoblasts: Detection of the 50 Most Common Disease-Causing Variants
(Abstracted from Prenat Diagn 2023;43:3–13) Autosomal recessive disorders can have a significant impact on quality of life for parents and individuals. One of the most common but also potentially severe of these disorders is cystic fibrosis (CF), a disorder that causes pulmonary and pancreatic dysfunction.
期刊介绍：
Each monthly issue of Obstetrical & Gynecological Survey presents summaries of the most timely and clinically relevant research being published worldwide. These concise, easy-to-read summaries provide expert insight into how to apply the latest research to patient care. The accompanying editorial commentary puts the studies into perspective and supplies authoritative guidance. The result is a valuable, time-saving resource for busy clinicians.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
