Novel options in Prenatal Genetic Diagnostic

Abstract

Modern molecular approaches to prenatal diagnostic of inherited diseases are briefly reviewed. Advantages and limitations of molecular methods for analysis of chromosomal anomalies (QF-PCR, aCGH, NGS) are considered in line with conventional prenatal karyotyping. The special attention is paid to efficacy, limitations and diagnostic options of noninvasive prenatal genetic testing (NIPT). Some particular problems of its widespread implication into routine clinical practice are discussed. State of art in preimplantation genetic diagnostics (PGD) and obvious great opportunities of preconceptional genetic testing are highlighted.

Keywords

inherited disorders / non-invasive prenatal diagnosis / prenatal karyotyping / QF-PCR / array-based comparative genomic hybridization / genetic card of reproductive health, genetic testing

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RIGHTS & PERMISSIONS

Baranov V.S., Kuznetzova T.V.