Article

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

2019-05-10

Abstract excerpt

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 indicatio...

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Literature Corpus work: fa50dd16-02aa-5d5d-918b-ff41aaef3bea
DOI: 10.1101/635342

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