Screening for cystic fibrosis.
Neonatal screening for cystic fibrosis (CF) reduces short-term morbidity but its long term effects remain to be demonstrated. The best available method is the assay of immunoreactive trypsin in dried blood spots, and specificity can be improved by adding direct or indirect genetic analysis. Pregnancies known to be at risk of CF can also be screened by molecular methods, and affected pregnancies terminated. The application of genetic testing to whole communities, to detect unknown heterozygotes, raises many questions which require consideration by society and the health professions. The development of effective treatment of the basic abnormality of cell function in CF would enhance the need for neonatal screening, and possibly reduce the requirement for abortion.
Ryley
H C
HC
Department of Medical Microbiology, University of Wales College of Medicine, Cardiff.
Goodchild
M C
MC
Dodge
J A
JA
D003550:Cystic Fibrosis / Q000175:diagnosis*; D006580:Genetic Carrier Screening; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods; D013542:Sweat / Q000737:chemistry; D014357:Trypsin / Q000097:blood
D014357:Trypsin