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Cell‐free DNA screening for rare autosomal trisomies and segmental chromosome imbalances

7 Sept 2022

Abstract excerpt

OBJECTIVE: To assess the outcomes of pregnancies at high-risk for rare autosomal trisomies (RATs) and segmental imbalances (SIs) on cell-free DNA (cfDNA) screening. METHOD: A retrospective study of women who underwent cfDNA screening between September 2019 and July 2021 at three ultrasound services in Australia. Positive predictive values (PPVs) were calculated using fetal chromosomal analysis. RESULTS: Among...

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PMID: 36068932
DOI: 10.1002/pd.6233

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