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Prenatal diagnosis of fetal aneuploidies: post-genomic developments.

Abstract：

: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.

journal_name

Genome Med

journal_title

Genome medicine

authors

Hahn S,Jackson LG,Zimmermann BG

doi

10.1186/gm171

subject

Has Abstract

pub_date

2010-08-05 00:00:00

pages

50

issue

8

issn

1756-994X

pii

gm171

journal_volume

2

pub_type

杂志文章

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