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Social and medical need for whole genome high resolution NIPT

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Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy.… Click to show full abstract

Two technological innovations in the last decade significantly influenced the diagnostic yield of prenatal cytogenetic testing: genomic microarray allowing high resolution analysis and noninvasive prenatal testing (NIPT) focusing on aneuploidy. To anticipate future trends in prenatal screening and diagnosis, we evaluated the number of invasive tests in our center and the number of aberrant cases diagnosed in the last decade.

Keywords: medical need; resolution; high resolution; whole genome; social medical; need whole

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2019

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