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Working paper

A method for non-invasive prenatal diagnosis of monogenic autosomal recessive disorders

Abstract:

Non-invasive prenatal testing (NIPT) to date is used in the clinic primarily to detect foetal aneuploidy. Few studies so far have focused on the detection of monogenic autosomal recessive disorders where mother and foetus carry the same mutation. In particular, NIPT is currently not available for the detection of Sickle Cell Anaemia (SCA), the most common monogenic disorder world-wide and the most common indication for invasive prenatal testing in high-income countries. Here, we report the cl...

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Publication status:
Not published
Peer review status:
Not peer reviewed

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Publisher copy:
10.1101/635342

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Institution:
University of Oxford
Division:
MSD
Department:
Oncology
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Oncology
Role:
Author
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Publisher:
Cold Spring Harbor Laboratory Publisher's website
Publication date:
2019-05-10
DOI:
Language:
English
Pubs id:
1146022
Local pid:
pubs:1146022
Deposit date:
2020-11-19

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