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Article

Single gene non‐invasive prenatal screening for autosomal dominant conditions in a high‐risk cohort

6 Apr 2023

Abstract excerpt

PURPOSE: To determine the utility of single gene non-invasive prenatal screening (NIPS-SGD) in a high-risk reproductive genetics clinic. METHODS: A clinical pilot for NIPS-SGD was conducted from March 2020 to November 2021. A NIPS-SGD panel assessing pathogenic variants in 30 genes was offered to pregnant individuals for the following indications: (1) advanced sperm age ≥40 years, (2) nuchal translucency (NT) ≥...

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Share to Genomic variations and chromosomal abnormalities
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PMID: 37021343
DOI: 10.1002/pd.6351

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