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Prenatal diagnosis of fetal aneuploidies: post-genomic developments
Journal article   Open access   Peer reviewed

Prenatal diagnosis of fetal aneuploidies: post-genomic developments

Sinuhe Hahn, Laird G Jackson and Bernhard G Zimmermann
Genome medicine, v 2(8), pp 50-50
05 Aug 2010
PMID: 20687900
url
https://genomemedicine.biomedcentral.com/track/pdf/10.1186/gm171View
Published, Version of Record (VoR) Open
url
https://doi.org/10.1186/gm171View
Published, Version of Record (VoR) Open

Abstract

Review
Prenatal diagnosis of fetal aneuploidies and chromosomal anomalies is likely to undergo a profound change in the near future. On the one hand this is mediated by new technical developments, such as chromosomal microarrays, which allow a much more precise delineation of minute sub-microscopic chromosomal aberrancies than the classical G-band karyotype. This will be of particular interest when investigating pregnancies at risk of unexplained development delay, intellectual disability or certain forms of autism. On the other hand, great strides have been made in the non-invasive determination of fetal genetic traits, largely through the analysis of cell-free fetal nucleic acids. It is hoped that, with the assistance of cutting-edge tools such as digital PCR or next generation sequencing, the long elusive goal of non-invasive prenatal diagnosis for fetal aneuploidies can finally be attained.

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Industry collaboration
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Web of Science research areas
Genetics & Heredity
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