TY - JOUR
T1 - Prenatal screening for cystic fibrosis
AU - Richards, Carolyn S.
AU - Haddow, James E.
N1 - Funding Information:
Development of this article was supported in part by the Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention, Grant #UR3/CCU319352.
PY - 2003/6
Y1 - 2003/6
N2 - This article focuses on essential components related to prenatal screening for cystic fibrosis, including the clinical disease, inheritance, prognosis and treatment, birth prevalence, and ethnic variability. The molecular basis of this disease is presented, including a discussion of the gene, mutations, and genotype/phenotype correlations. The models that have been used for delivering prenatal screening services in pilot trials are described, along with lessons learned, expected screening performance, and relevant ELSI considerations. A realistic view of laboratory issues is considered, including current standards of performance, guidelines and oversight, and quality assurance. Examples of current laboratory technologies for cystic fibrosis testing are displayed.
AB - This article focuses on essential components related to prenatal screening for cystic fibrosis, including the clinical disease, inheritance, prognosis and treatment, birth prevalence, and ethnic variability. The molecular basis of this disease is presented, including a discussion of the gene, mutations, and genotype/phenotype correlations. The models that have been used for delivering prenatal screening services in pilot trials are described, along with lessons learned, expected screening performance, and relevant ELSI considerations. A realistic view of laboratory issues is considered, including current standards of performance, guidelines and oversight, and quality assurance. Examples of current laboratory technologies for cystic fibrosis testing are displayed.
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U2 - 10.1016/S0272-2712(03)00033-7
DO - 10.1016/S0272-2712(03)00033-7
M3 - Review article
C2 - 12848456
AN - SCOPUS:0038109959
SN - 0272-2712
VL - 23
SP - 503
EP - 530
JO - Clinics in Laboratory Medicine
JF - Clinics in Laboratory Medicine
IS - 2
ER -