CFTR [Delta]F508 Mutation Detection from Dried Blood Samples in the First Trimester of Pregnancy: A Possible Routine Prenatal Screening Strategy for Cystic Fibrosis?

• Published in: Fetal diagnosis and therapy Vol. 22; no. 1; p. 41
• Main Authors: Konialis, Christopher P, Hagnefelt, Birgitta, Kazamia, Constantina, Karapanou, Sophia, Pangalos, Constantinos
• Format: Journal Article
• Language: English
• Published: Basel S. Karger AG 01.12.2006
• ISSN: 1015-3837; 1421-9964

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 was isolated from 1,233 dried blood spots and analyzed for the presence of the CF transmembrane regulator ΔF508 mutation. Women carriers were offered and accepted the option for additional full testing of their partners in order to assess the risk for the fetus. Results: All 1,233 samples were successfully analyzed, identifying 23 ΔF508 carriers, corresponding to a ΔF508 carrier rate of ∼1/55 (1.8%). All partners of the women carriers were further tested without revealing any need for further prenatal testing in this group. Conclusions: This study reveals the relatively high frequency of the ΔF508 CF mutation in the Greek population. More importantly, we demonstrate that the proposed prenatal screening strategy, based on the ease and cost-effectiveness of the analysis for the detection of a single common mutation, can be considered as a feasible and practical approach for wide-scale prenatal screening for CF, following the sequential model. It is applied early on in pregnancy, allowing for the timely management of families at risk for the corresponding genetic disorders. Finally, it can easily be extended to include screening for other common genetic disorders in specific population groups. Copyright © 2007 S. Karger AG, Basel