Prenatal diagnosis: the clinical usefulness of array comparative genomic hybridization

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Prenatal diagnosis of genomic disorders and chromosome abnormalities using array-based comparative genomic hybridization.

Cytogenetic analysis is a crucial tool of prenatal diagnosis. The ability to rapidly detect aneuploidy and identify small structural abnormalities of foetal chromosomes has been greatly improved by the use of molecular cytogenetic technologies. Microarray-based Comparative Genomic Hybridization (aCGH) has been recently employed in postnatal diagnosis of cryptic chromosomal aberrations, but use ...

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BACKGROUND Submicroscopic genomic imbalance underlies well-defined microdeletion and microduplication syndromes and contributes to general developmental disorders such as mental retardation and autism. Array comparative genomic hybridization (CGH) complements routine cytogenetic methods such as karyotyping and fluorescence in situ hybridization (FISH) for the detection of genomic imbalance. Oli...

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PURPOSE OF REVIEW Embryo assessment is a crucial component to the success of IVF. A high rate of embryos produced in vitro present chromosomal abnormalities and have reduced potential for achieving a viable pregnancy. The use of preimplantation genetic diagnosis by array comparative genomic hybridization, for comprehensive aneuploidy screening of embryos, to improve IVF outcomes, is reviewed. ...

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Introducing array comparative genomic hybridization into routine prenatal diagnosis practice: a prospective study on over 1000 consecutive clinical cases.

OBJECTIVE To assess the feasibility of offering array-based comparative genomic hybridization testing for prenatal diagnosis as a first-line test, a prospective study was performed, comparing the results achieved from array comparative genomic hybridization (aCGH) with those obtained from conventional karyotype. METHOD Women undergoing amniocentesis or chorionic villus sampling were offered a...

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ژورنال

عنوان ژورنال: Porto Biomedical Journal

سال: 2018

ISSN: 2444-8664

DOI: 10.1016/j.pbj.0000000000000013