Interest in and uptake of genetic counseling for preconception carrier screening when offered to predominantly white reproductive-age persons seeking gynecologic care at a single U.S. academic medical center.
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DOI: 10.1002/jgc4.1457
Abstract: The objective of this study was to assess the level of interest in preconception carrier screening among reproductive-aged persons presenting for gynecologic care and to identify demographic factors predictive of pursuing screening. Patients aged 18-40… read more here.
Keywords: genetic counseling; carrier screening; interest; preconception carrier ... See more keywords
Exome‐based preconception carrier testing for consanguineous couples in China
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DOI: 10.1002/pd.6018
Abstract: To evaluate the utility of clinical exome sequencing (ES)‐based carrier screening in Chinese consanguineous couples. read more here.
Keywords: preconception carrier; based preconception; consanguineous couples; exome based ... See more keywords
A comprehensive strategy for exome-based preconception carrier screening
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DOI: 10.1038/gim.2016.153
Abstract: Purpose:Whole-exome sequencing (WES) provides the possibility of genome-wide preconception carrier screening (PCS). Here, we propose a filter strategy to rapidly identify the majority of relevant pathogenic mutations.Methods:Our strategy was developed using WES data from eight… read more here.
Keywords: preconception carrier; carrier screening; nonconsanguineous couples; exome ... See more keywords
Pathogenic Variant-Based Preconception Carrier Screening in the Israeli Jewish Population.
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DOI: 10.1111/cge.14131
Abstract: Preconception carrier screening allows identification of couples at risk to have offspring with autosomal recessive and X-linked disorders. In a current multiethnic world, the screening based on self-reported ancestry has limitations. Here we describe the… read more here.
Keywords: carrier screening; carrier; population; variant based ... See more keywords
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
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DOI: 10.1136/jmg-2022-108607
Abstract: Background Consanguineous couples have an increased risk of severe diseases in offspring due to autosomal recessive disorders. Exome sequencing (ES) offers the possibility of extensive preconception carrier screening (PCS) in consanguineous couples who may be… read more here.
Keywords: carrier; carrier screening; consanguineous couples; exome sequencing ... See more keywords