An update on cystic fibrosis screening.
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.
Goetzinger
Katherine R
KR
Department of Obstetrics and Gynecology, Washington University School of Medicine, 660 South Euclid, St Louis, MO 63110, USA. goetzingerk@wudosis.wustl.edu
Cahill
Alison G
AG
D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator