Article
Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.
Clinical chemistry - 1 Dec 2009
Oca Florine, Dreux Sophie, Gérard Bénédicte, Simon-Bouy Brigitte, de Becdelièvre Alix, Ferec Claude, Girodon Emmanuelle, Muller Françoise
Abstract excerpt
BACKGROUND: The large number of CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] mutations and the existence of variants of unclear significance complicate the prenatal diagnosis of cystic fibrosis (CF). The aim of this study was to determine whether the pattern of amniotic fluid digestive enzymes (AF-DEs) could be correlated with the severity of CFTR...
Topics
- Alkaline Phosphatase
- Amniotic Fluid
- Antigens, Neoplasm
- CD13 Antigens
- Cystic Fibrosis
- Cystic Fibrosis Transmembrane Conductance Regulator
- Databases, Factual
- Fetus
- GPI-Linked Proteins
- Humans
- Intestines
- Isoenzymes
- Mutation
- Prenatal Diagnosis