Details

Autor(en) / Beteiligte

• Sobczyńska-Tomaszewska, Agnieszka
• Ołtarzewski, Mariusz
• Czerska, Kamila
• Wertheim-Tysarowska, Katarzyna
• Sands, Dorota
• Walkowiak, Jarosław
• Bal, Jerzy
• Mazurczak, Tadeusz

Titel

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy

Ist Teil von

• European journal of human genetics : EJHG, 2013-04, Vol.21 (4), p.391-396

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2013

Link zum Volltext

Quelle

Electronic Journals Library

Beschreibungen/Notizen

• Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1,212,487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by NBS CF. Disease incidence in Poland based on the programme results was estimated as 1/4394 and carrier frequency as 1/33. The frequency of the F508del was similar (62%) to population data previously reported. This strategy allowed us to identify 29 affected infants with rare genotypes. The frequency of some mutations (eg, 2184insA, K710X) was assessed in Poland for the first time. Thus, sequencing assay seems to be accurate method for screening programme using blood spots in the Polish population.