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

Prenatal diagnosis - 1 Jan 2023

Shum Bennett O V, Sng Letitia M F, Ruseckaite Rasa, Henner Ilya, Twine Natalie, Bauer Denis C, Wilgen Urs, Pretorius Carel, Barahona Paulette, Ungerer Jacobus P J, Bennett Glenn

Abstract excerpt

OBJECTIVE: European and Australian guidelines for cystic fibrosis (CF) reproductive carrier screening recommend testing a small number of high frequency CF causing variants, rather than comprehensive CFTR sequencing. The study objective was to determine variant detection rates of commercially available targeted reproductive carrier screening tests in Australia. METHODS: Next-generation DNA sequencing of the CFTR...

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PMID: 36484552
DOI: 10.1002/pd.6285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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