PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders
نویسندگان
چکیده
منابع مشابه
Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy
OBJECTIVES To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. METHODS Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT...
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 کاملGenetic testing for single gene disorders.
Genetic testing for single gene disorders is becoming available in Sri Lanka. While it offers many benefits, there are concerns about psychological and social problems that can be a consequence of such tests. This article aims to review the potential benefits and disadvantages of genetic testing, and recommends mechanisms that would help minimise problems associated with the inappropriate use o...
متن کاملNon-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 کاملPrenatal Diagnostic Testing for Genetic Disorders
Fetal genetic disorders are abnormalities in structure or function caused by differences in the genome that are distinct from those primarily caused by environmental or other disruptive factors. Increasingly, it is recognized that these distinctions are not always clear. A genetic predisposition may increase a person’s susceptibility to environmental influences, and some genetic abnormalities m...
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ژورنال
عنوان ژورنال: Reproduction
سال: 2020
ISSN: 1470-1626,1741-7899
DOI: 10.1530/rep-19-0591