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CFTR DeltaF508 mutation detection from dried blood samples in the first trimester of pregnancy: a possible routine prenatal screening strategy for cystic fibrosis?

Fetal diagnosis and therapy - 1 Jan 2007

Konialis Christopher P, Hagnefelt Birgitta, Kazamia Constantina, Karapanou Sophia, Pangalos Constantinos

Abstract excerpt

OBJECTIVE: The implementation and evaluation of a proposed wide-scale prenatal screening strategy, based on DNA isolated from dried blood spots in the first trimester of pregnancy, for the early detection of pregnancies at risk for cystic fibrosis (CF). METHODS: The screening was performed in conjunction with routine biochemical marker screening for Down's syndrome risk in the first trimester of pregnancy. DNA...

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Source

Identifiers

PMID: 17003555
DOI: 10.1159/000095842

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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