Although noninvasive prenatal testing is not intended to identify maternal genomic information, it can provide other information that may lead to the incidental discovery of coexisting conditions including maternal malignancy.
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Protocol for genetic analysis of population-scale ultra-low-depth sequencing data.
STAR Protoc
January 2025
BGI Research, Shenzhen 518083, China; Shenzhen Key Laboratory of Transomics Biotechnologies, BGI Research, Shenzhen 518083, China. Electronic address:
Non-invasive prenatal testing (NIPT) not only enables the detection of chromosomal anomalies in fetuses but also generates vast amounts of ultra-low-depth sequencing data, which can be leveraged for population genomic studies. Here, we present a protocol designed for massive ultra-low-depth sequencing datasets. We detail the steps for data processing, quality control, and genotype imputation, followed by genome-wide association study (GWAS) and post-GWAS analyses.
View Article and Find Full Text PDFAustralian Preferences for Prenatal Screening: A Discrete Choice Experiment Comparing Metropolitan and Rural/Regional Areas.
Appl Health Econ Health Policy
January 2025
Menzies Centre for Health Policy and Economics, Sydney School of Public Health, University of Sydney, Sydney, NSW, Australia.
Background: Non-invasive prenatal testing has the potential to be a useful genetic screening tool in Australia. However, concerns have been raised about its cost, commercial provision, the psychological impacts of the screening process, and disparities in access experienced by rural and regional communities.
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Chin Med J (Engl)
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Department of Medical Genetics/Prenatal Diagnostic Center, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610000, China.
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Amsterdam UMC Locatie AMC, Amsterdam, The Netherlands.
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Prenat Diagn
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Department of Bioethics, Clinical Center, National Institutes of Health, Bethesda, Maryland, USA.
Previous studies suggest that NIPT's implementation differed widely across countries but offer limited insight into what shaped these differences. To address this gap, we conducted an in-depth analysis of how NIPT was incorporated into prenatal care in the US, the Netherlands, and Japan-countries with similar economic status-to identify actionable lessons. We conducted an integrative literature review on the process of introducing and implementing NIPT, stakeholders' roles, documented considerations in the decision to introduce NIPT, implementation choices, and NIPT uptake.
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