PREIMPLANTATION GENETIC TESTING: Non-invasive prenatal testing for aneuploidy, copy-number variants and single-gene disorders.

Reproduction : the Official Journal of the Society for the Study of Fertility
J ShawLyn S Chitty

Abstract

The discovery of cell-free fetal DNA (cffDNA) in maternal plasma has enabled a paradigm shift in prenatal testing, allowing for safer, earlier detection of genetic conditions of the fetus. Non-invasive prenatal testing (NIPT) for fetal aneuploidies has provided an alternative, highly efficient approach to first-trimester aneuploidy screening, and since its inception has been rapidly adopted worldwide. Due to the genome-wide nature of some NIPT protocols, the commercial sector has widened the scope of cell-free DNA (cfDNA) screening to include sex chromosome aneuploidies, rare autosomal trisomies and sub-microscopic copy-number variants. These developments may be marketed as 'expanded NIPT' or 'NIPT Plus' and bring with them a plethora of ethical and practical considerations. Concurrently, cfDNA tests for single-gene disorders, termed non-invasive prenatal diagnosis (NIPD), have been developed for an increasing array of conditions but are less widely available. Despite the fact that all these tests utilise the same biomarker, cfDNA, there is considerable variation in key parameters such as sensitivity, specificity and positive predictive value depending on what the test is for. The distinction between diagnostics and screening h...Continue Reading

Citations

Jan 6, 2021·Sports Medicine·Amanda D HagstromCaroline E Ford
Jan 11, 2021·The Medical Journal of Australia·Joseph ThomasDavid Kirchhoffer
Dec 8, 2020·Multidisciplinary Respiratory Medicine·Ryan JaquesCameron Hoyle
Jun 3, 2021·Medicina·Mari DeguchiTakashi Murakami

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