Non-invasive prenatal testing for single gene disorders: exploring the ethics
نویسندگان
چکیده
منابع مشابه
Non-invasive prenatal diagnosis (NIPD) for single gene disorders: cost analysis of NIPD and invasive testing pathways.
OBJECTIVE Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. METHOD Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders. RESULTS For autosomal dominant conditions, where NIPD m...
متن کاملNon-invasive prenatal testing.
BACKGROUND Non-invasive prenatal testing (NIPT), also known as cell-free DNA testing and non-invasive prenatal screening (NIPS), is an important addition to the range of screening tests for fetal chromosomal abnormalities. For trisomy 21 in particular, NIPT is superior to other screening modalities. However, NIPT has limitations and complexities that requesting clinicians and their patients sho...
متن کاملNon-invasive prenatal diagnosis of single-gene disorders from maternal blood.
Prenatal diagnosis (PD) is available for pregnancies at risk of monogenic disorders. However, PD requires the use of invasive obstetric techniques for fetal-sample collection and therefore, involves a risk of fetal loss. Circulating fetal DNA in the maternal bloodstream is being used to perform non-invasive prenatal diagnosis (NIPD). NIPD is a challenging discipline because of the biological fe...
متن کاملThe Evolution of Prenatal Diagnosis from Invasive Procedures to Non-invasive Prenatal Testing (NIPT)
Yuval Yaron1,2,*, and Rachel Michaelson-Cohen3,4 1Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel 2Sackler Faculty of Medicine, Tel Aviv University, Israel 3Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Israel 4Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of...
متن کاملSample Specific Fetal Fraction Threshold for Non-Invasive Prenatal Testing
SNR separates meaningful information (signal) from background information (noise). In statistical applications of SNR, signal is equivalent to a random variable expectation, and noise is equivalent to its variance. Here, cell-free DNA material (containing both maternal and fetal DNA) from pregnant plasma is tested for detection of genomic events in fetal DNA. The fractional fetal DNA in a sampl...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2012.250