Obstetricians should get ready for expanded carrier screening
نویسندگان
چکیده
منابع مشابه
Expanded carrier screening in gamete donors of Venezuela
OBJECTIVE To discuss the implications of expanded genetic carrier screening for preconception purposes based on our practice. METHODS One hundred and forty-three potential gamete donors aged 20-32 years old (µ=24, 127 females and 16 males), signed informed consent forms and were selected according to the REDLARA guidelines. Blood or saliva samples were examined by one of these genetic carrier...
متن کاملCurrent practice and attitudes of Australian obstetricians toward population-based carrier screening for inherited conditions.
An anonymous survey of Australian Fellows of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists was conducted with the aim of understanding current practice and attitudes toward population-based carrier screening for inherited conditions in the setting of routine pregnancy care. Of 1,121 Fellows invited to complete the online questionnaire by e-mail, 237 (21%) resp...
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متن کاملSystematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels
Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening panels. We hypothesized that diseases with characteristics deemed to be of highest impact would likewise b...
متن کاملOutcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
BACKGROUND Consideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment o...
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ژورنال
عنوان ژورنال: BJOG: An International Journal of Obstetrics & Gynaecology
سال: 2016
ISSN: 1470-0328
DOI: 10.1111/1471-0528.14196