Articles with "expanded carrier" as a keyword



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Perceived barriers to paternal expanded carrier screening following a positive maternal result: To screen or not to screen

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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… read more here.

Keywords: carrier screening; following positive; expanded carrier; screen ... See more keywords
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Evaluating the experiences of individuals with personal health risks identified through expanded carrier screening.

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Published in 2021 at "Journal of genetic counseling"

DOI: 10.1002/jgc4.1527

Abstract: Expanded carrier screening (ECS) is used to identify individuals and couples at risk for having children with recessive or X-linked genetic conditions; however, personal health risks (PHR) can also be identified through this testing. There… read more here.

Keywords: information; counseling; genetic counseling; expanded carrier ... See more keywords
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Pregnant Latinas' perspectives on pursuing expanded carrier screening: "It is better to know than not".

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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… read more here.

Keywords: ecs; carrier screening; pregnant latinas; expanded carrier ... See more keywords
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Expanded carrier screening for monogenic disorders: where are we now?

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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… read more here.

Keywords: carrier screening; screening monogenic; monogenic disorders; expanded carrier ... See more keywords
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Expanded carrier screening: What conditions should we screen for?

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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… read more here.

Keywords: carrier; carrier screening; screening conditions; panel ... See more keywords
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Informed consent for expanded carrier screening: Past, present, and future

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Published in 2023 at "Prenatal Diagnosis"

DOI: 10.1002/pd.6310

Abstract: History, law, bioethics, and geocultural influences all have impacted the modern application of informed consent. It is a complex, multilayered process to communicate information and obtain voluntary patient permission before a health care intervention. Lack… read more here.

Keywords: informed consent; carrier screening; consent; consent expanded ... See more keywords
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Current attitudes and preconceptions towards expanded carrier screening in the Eastern Chinese reproductive-aged population

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Published in 2021 at "Journal of Assisted Reproduction and Genetics"

DOI: 10.1007/s10815-020-02032-w

Abstract: A growing number of Chinese individuals of reproductive age will face the choice of accepting or refusing expanded carrier screening (ECS). This study aimed to explore the awareness, wishes, and possible misconceptions of ECS among… read more here.

Keywords: carrier screening; reproductive aged; expanded carrier; eastern chinese ... See more keywords
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Ethical quandaries around expanded carrier screening in third-party reproduction.

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Published in 2018 at "Fertility and sterility"

DOI: 10.1016/j.fertnstert.2017.11.032

Abstract: Although current screening methods of gamete donors are capable of reducing the incidence of genetic anomalies in donor offspring below general population levels, targeted screening for a large number of conditions (expanded carrier screening or… read more here.

Keywords: carrier screening; around expanded; expanded carrier; carrier ... See more keywords
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Responsible implementation of expanded carrier screening

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Published in 2017 at "European Journal of Human Genetics"

DOI: 10.1038/ejhg.2017.159

Abstract: This corrects the article DOI: 10.1038/ejhg.2015.271 read more here.

Keywords: expanded carrier; carrier screening; responsible implementation; implementation expanded ... See more keywords
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The influence of expanded carrier screening in assisted reproductive techniques: changed the ‘game’– review

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Published in 2023 at "Annals of Medicine and Surgery"

DOI: 10.1097/ms9.0000000000000657

Abstract: Expanded carrier screening constitutes a new scientific tool able to detect conditions that can be treated immediately after birth or during pregnancy. Its implementation could affect both the prenatal period and assisted reproductive techniques. It… read more here.

Keywords: reproductive techniques; future parents; carrier screening; assisted reproductive ... See more keywords
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Clinical Utility of Medical Exome Sequencing: Expanded Carrier Screening for Patients Seeking Assisted Reproductive Technology in China

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.943058

Abstract: Purpose: Expanded carrier screening (ECS) is an effective method to identify at-risk couples (ARCs) and avoid birth defects. This study aimed to reveal the carrier spectrum in the Chinese population and to delineate an expanded… read more here.

Keywords: carrier; carrier screening; assisted reproductive; exome sequencing ... See more keywords