The inequity of targeted cystic fibrosis reproductive carrier screening tests in Australia.

Bennett Ov ShumLetitia SngRasa RuseckaiteIlya HennerNatalie TwineDenis C BauerUrs WilgenCarel PretoriusPaulette BarahonaJacobus Pj UngererGlenn Bennett

Published in: Prenatal diagnosis (2022)

Reproductive carrier screening tests for a targeted set of high frequency CF variants are unable to detect approximately 10% of CF variants in a multiethnic Australian population, and individuals of East Asian ethnicity are disproportionally affected by this test limitation. This article is protected by copyright. All rights reserved.

Keyphrases

cystic fibrosis
high frequency
transcranial magnetic stimulation
pseudomonas aeruginosa
copy number
lung function
cancer therapy
gene expression
dna methylation
chronic obstructive pulmonary disease
air pollution