Obstetricians and gynecologists' practice and opinions of expanded carrier testing and noninvasive prenatal testing

Benn, Peter; Chapman, Audrey R.; Erickson, Kristine; Defrancesco, Michaela; Wilkins‐Haug, Louise; Egan, James; Schulkin, Jay

doi:10.1002/pd.4272

Cited by 82 publications

(112 citation statements)

References 33 publications

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“…Additional studies cite similar results to support the findings that anxiety, guilt, and stigma do not carry the weight presupposed by some medical professionals 38, 39, 40, 41. It is plausible that physicians and genetic counselors are actually projecting their own anxiety about the time investment and energy required to convey more information onto their patients.…”

Section: Anxiety and Stigmatizationmentioning

confidence: 64%

Changing trends in carrier screening for genetic disease in the United States

Nazareth¹,

Lazarin²,

Goldberg³

2015

Prenatal Diagnosis

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Genetic disease is the leading cause of infant death in the United States, accounting for approximately 20% of annual infant mortality. Advances in genomic medicine and technological platforms have made possible low cost, pan‐ethnic expanded genetic screening that enables obstetric care providers to offer screening for over 100 recessive genetic diseases. However, the rapid integration of genomic medicine into routine obstetric practice has raised some concerns about the practical implementation of such testing. These changing trends in carrier screening, along with concerns and potential solutions, will be addressed. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.

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Section: Anxiety and Stigmatizationmentioning

confidence: 64%

Changing trends in carrier screening for genetic disease in the United States

Nazareth¹,

Lazarin²,

Goldberg³

2015

Prenatal Diagnosis

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“…These same issues have been reiterated in other empirical and non-empirical articles (Borry et al 2011;Cho et al 2013;Benn et al 2013;Edwards et al 2015). For many reasons, adequate information is crucial in preconception ECS.…”

Section: Discussionmentioning

confidence: 91%

“…Prenatal screening provides an option for women to abort an affected fetus, while in neonatal screening, the child is already born (Health Council of the Netherlands 2007). In a study surveying gynecologists and obstetricians Fellows of the American College of Obstetricians and Gynecologists, two thirds of respondents indicated that the best time to use expanded carrier screening should be preconceptionally when a couple is planning a pregnancy (Benn et al 2013). This was reiterated by respondents in our study who held the opinion that preconception ECS may reduce abortion incidence.…”

Section: Discussionmentioning

confidence: 99%

Swedish healthcare providers’ perceptions of preconception expanded carrier screening (ECS)—a qualitative study

2016

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Reproductive autonomy, medicalization, and discrimination against disabled and parental responsibility are the main ongoing ethical debates concerning reproductive genetic screening. To examine Swedish healthcare professionals' views on preconception expanded carrier screening (ECS), a qualitative study involving academic and clinical institutions in Sweden was conducted in September 2014 to February 2015. Eleven healthcare professionals including clinicians, geneticists, a midwife, and a genetic counselor were interviewed in depth using a semi-structured interview guide. The questionnaire was constructed after reviewing the main literature and meetings with relevant healthcare providers. The interviews were recorded, transcribed verbatim, and content analyzed for categories and subcategories. Participants nurtured many ethical and non-ethical concerns regarding preconception ECS. Among the ethical concerns were the potential for discrimination, medicalization, concerns with prioritization of healthcare resources, and effects on reproductive freedom. The effects of implementation of preconception ECS, its stakeholders, regulations, and motivation are some of non-ethical concerns. These concerns, if not addressed, may affect the uptake and usage of carrier screening within Swedish healthcare system. As this is a qualitative study with a small non-random sample size, the findings cannot be generalized. The participants had little to no working experience with expanded screening panels. Moreover, the interviews were conducted in English, a second language for the participants, which might have limited the expression of their views. However, the authors claim that the findings may be pertinent to similar settings in other Scandinavian countries.

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“…С помощью секвенирования ново-го поколения (NGS) и специальных компьютер-ных программ даже в минимальном количестве ДНК плода, составляющем 5-10 % по отношению к общему количеству ДНК в крови беременной женщины, удается с высокой вероятностью (97-99 %) определить наличие у плода частых хромосомных болезней, включая синдром Дауна, другие трисомии, нарушения числа половых хро-мосом, многие микроделеционные синдромы и даже ряд генных заболеваний [28][29][30].…”

Section: неинвазивная пренатальная диагностикаunclassified

“…Учитывая высокую эффективность метода, 79 % американских врачей считают, что неин-вазивное пренатальное тестирование по крови матери (НИПт) уже может быть использовано для скрининга синдрома Дауна, а 46 % амери-канских врачей предлагают заменить всю ПД на НИПД [28].…”

Section: неинвазивная пренатальная диагностикаunclassified