Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory
نویسندگان
چکیده
منابع مشابه
Ethical issues in preconception genetic carrier screening
Population-based preconception genetic carrier screening programmes (PCS) with expanded panels are currently being developed in the Netherlands. This form of genetic screening for recessive traits differs from other forms of genetic testing and screening in that it is offered to persons not known to have an increased risk of being carriers of genetic traits for severe recessive diseases and in ...
متن کاملPreconception genetic carrier screening: use and problems
The recent publications on preconception health and care are very interesting (1). Indeed, the ethical issues are important concerns. The published article by Kihlbom focused upon preconception genetic screening with expanded panels, but it is only for one trait (2). I would like to share the practice in my country on the screening of complex endemic genetic problems. In Thailand, genetic carri...
متن کاملSwedish parents’ interest in preconception genetic carrier screening
INTRODUCTION Genetic technologies advance rapidly. It is possible to undergo genetic carrier screening before pregnancy to examine genetic risks to future offspring. We aimed to investigate parents' interest and motives towards preconception genetic carrier screening (PCS) as well as factors associated with interest in PCS. MATERIAL AND METHODS Our study sample consists of 777 parent couples ...
متن کاملI-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...
متن کاملClinical Genome Sequencing
INTRODUCTION The completion of the first draft of the Human Genome Project in 2001, and subsequent refinements since then, have stimulated an explosion of research about the human genome, the inherent variability of DNA sequences among humans, and the relationship of sequence variation to human health. The scientific impact of this research in understanding the pathophysiology of disease and in...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2018
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2018.04.004