An Update on Cystic Fibrosis Screening

被引：10

作者：

Goetzinger, Katherine R. ^{[1
]}

Cahill, Alison G. ^{[1
]}

机构：

[1] Washington Univ, Sch Med, Dept Obstet & Gynecol, St Louis, MO 63110 USA

来源：

CLINICS IN LABORATORY MEDICINE | 2010年 / 30卷 / 03期

关键词：

Cystic fibrosis; Prenatal diagnosis; Carrier screening; CFTR; Pregnancy; CONGENITAL ABSENCE; FETAL BOWEL; CFTR GENE; MUTATION; IDENTIFICATION; RISK; ASSOCIATION; PREGNANCIES; DIAGNOSIS;

D O I：

10.1016/j.cll.2010.04.005

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Cystic fibrosis (CF) is a monogenic, autosomal recessive disorder, which ultimately leads to multisystem organ dysfunction and a subsequent decrease in life expectancy. Because of the sizeable number of disease causing mutations (>1000) and expansive ethnic and racial distribution, CF has presented a challenge for prenatal diagnosis. This article aims to review the genetics of CF, its spectrum of genotypic-phenotypic variations, current prenatal carrier screening and diagnostic recommendations, ultrasonographic markers of CF, and available reproductive options for carrier couples.

引用

页码：533 / +

页数：12

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