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Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.40829
Abstract: Key Points Question Are site of care, clinician, and patient-specific factors associated with differences in whether reproductive genetic carrier screening was ordered prior to vs during pregnancy across a health care system? Findings This cross-sectional…
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Keywords:
system;
site care;
health;
carrier screening ... See more keywords
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Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24033
Abstract: Clinical guidelines consider expanded carrier screening (ECS) to be an acceptable method of carrier screening. However, broader guideline support and payer adoption require evidence for associations between the genes on ECS panels and the conditions…
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Keywords:
carrier screening;
gene;
gene disease;
clinical validity ... See more keywords
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Published in 2020 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1333
Abstract: Expanded carrier screening identifies individuals who are at risk of having a child with an autosomal recessive condition. The most accurate risk assessment requires that both mother and father undergo carrier screening to determine whether…
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Keywords:
carrier screening;
following positive;
expanded carrier;
screen ... See more keywords
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Published in 2021 at "Journal of genetic counseling"
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…
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Keywords:
genetic counseling;
carrier screening;
interest;
preconception carrier ... See more keywords
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Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1575
Abstract: Reproductive genetic carrier screening (RGCS) allows to identify couples who have an increased likelihood of conceiving a child affected with an autosomal recessive or X‐linked monogenic condition. Multiple studies have reported on a wide and…
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Keywords:
genetic carrier;
rgcs;
carrier screening;
reasons accept ... See more keywords
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Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1676
Abstract: Expanded carrier screening (ECS) intends to broadly screen healthy individuals to determine their reproductive chance for autosomal recessive (AR) and X-linked (XL) conditions with infantile or early-childhood onset, which may impact reproductive management (Committee Opinion…
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Keywords:
ecs;
carrier;
carrier screening;
evidence ... See more keywords
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Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1691
Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive and often fatal neurological disease. However, very little is known about the attitudes toward SMA carrier screening among Chinese pregnant people. In this study, pregnant women in…
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Keywords:
attitudes toward;
carrier screening;
pregnant women;
sma ... See more keywords
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Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1696
Abstract: With the advance of genetic technologies, the use of expanded carrier screening (ECS) in the prenatal setting is growing. ECS tests for a wide range of inherited genetic disorders regardless of racial/ethnic background and family…
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Keywords:
ecs;
carrier screening;
pregnant latinas;
expanded carrier ... See more keywords
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Published in 2018 at "Prenatal Diagnosis"
DOI: 10.1002/pd.5109
Abstract: Expanded carrier screening (ECS), which can identify carriers of a large number of recessive disorders in the general population, has grown in popularity and is now widely accessible to prospective parents. This article presents a…
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Keywords:
carrier screening;
screening monogenic;
monogenic disorders;
expanded carrier ... See more keywords
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Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6253
Abstract: Reproductive genetic carrier screening (RGCS) panels often include genes associated with non‐syndromic hearing loss (NSHL) despite a lack of evidence of acceptability. Although some couples take steps to avoid having a child who is deaf,…
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Keywords:
genetic carrier;
associated non;
genes associated;
carrier screening ... See more keywords
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Published in 2023 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6306
Abstract: Carrier screening tests reproductive couples for their risk of having children affected by serious monogenic conditions. Carrier screening has historically been offered for certain conditions in high‐risk populations. However, more recent evidence has shown that…
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Keywords:
carrier;
carrier screening;
screening conditions;
panel ... See more keywords