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

IF 4.3 4区医学 Q1 OBSTETRICS & GYNECOLOGY

Obstetrical & Gynecological Survey Pub Date : 2023-07-01 DOI:10.1097/01.ogx.0000947140.57660.b6

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

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引用次数: 0

摘要

(摘自Prenat Diagn 2023; 43:3-13)常染色体隐性遗传病对父母和个人的生活质量有显著影响。这些疾病中最常见但也可能严重的是囊性纤维化(CF)，一种导致肺和胰腺功能障碍的疾病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

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.

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来源期刊

Obstetrical & Gynecological Survey 医学-妇产科学

CiteScore

2.70

自引率

3.20%

发文量

245

审稿时长

>12 weeks

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.