Newborn screening: from Guthrie to whole genome sequencing.
نویسندگان
چکیده
منابع مشابه
I-20: Towards The Transparent Embryo: Dynamics and Ethics of Comprehensive Preimplantation Genetic Screening
Background: To study the ethical aspects of comprehensive preimplantation genetic screening (PGS) through microarrays and whole genome sequencing Materials and Methods: In order to pinpoint ethical issues regarding comprehensive embryo screening we have first investigated the technical and moral issues by organizing a campus meeting with experts and by a literature study. Subsequently we have i...
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September is newborn screening awareness month. Since 1963, state public health programs have screened newborns for a number of life-altering health conditions. Many of these disorders are rare and genetic, and if caught in the first weeks of life they can be treated or managed to prevent death or a lifetime of disability. Early detection can also help families avoid the lengthy and stressful ‘...
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Newborn screening (NBS) exists in every state for the purpose of testing newborns for genetic medical conditions that can be severe, may be treatable, and are often not clinically evident at birth. While almost all of the diseases screened for in newborns have underlying genetic causes, NBS in its current form is performed not by testing for genetic mutations, but by testing for biochemical mar...
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The rapid advancement of next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several fields of medicine. Currently, there are no specific guidelines for the use of NGS in the field of neonatal medicine and in the diagnosis of genetic diseases in critically ill newborn in...
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ورودعنوان ژورنال:
- Public health reports
دوره 128 Suppl 2 شماره
صفحات -
تاریخ انتشار 2013