English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

It has been suggested that cascade testing, in which relatives of a person affected with cystic fibrosis (CF) are tested for carrier status, is preferable to screening individuals in the general population. This idea was examined by calculating the number of relatives requiring testing, assuming that it is necessary to identify all those of reproductive age no more distantly related to the proband than second cousins. Two hypothetical programmes were used, in each of which only blood relatives of an affected proband were tested and subsequent analysis applied to relatives of those with a positive result.    If started in the grandparental generation, cascade testing of about 28 relatives for each proband would detect 86.4% of carriers in the family. If only carried out for the parental generation and their descendants, testing of about 35 relatives for each proband would detect 92.1% of carriers in the family. If cascade testing were restricted to the second cousin level, however, these programmes would only detect between 8 and 24% of all carrier couples. This contrasts with the 50% detection rate that has already been demonstrated for antenatal CF screening.

Cascade Testing for the Identification of Carriers of Cystic Fibrosis