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Article

Next generation sequencing of SNPs for non-invasive prenatal diagnosis: challenges and feasibility as illustrated by an application to β-thalassaemia.

European journal of human genetics : EJHG - 1 Dec 2013

Papasavva Thessalia, van Ijcken Wilfred F J, Kockx Christel E M, van den Hout Mirjam C G N, Kountouris Petros, Kythreotis Loukas, Kalogirou Eleni, Grosveld Frank G, Kleanthous Marina

Abstract excerpt

β-Thalassaemia is one of the most common autosomal recessive single-gene disorder worldwide, with a carrier frequency of 12% in Cyprus. Prenatal tests for at risk pregnancies use invasive methods and development of a non-invasive prenatal diagnostic (NIPD) method is of paramount importance to prevent unnecessary risks inherent to invasive methods. Here, we describe such a method by assessing a modified version of...

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Identifiers

PMID: 23572027
DOI: 10.1038/ejhg.2013.47
PMCID: PMC3831067

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Source receipt: pubmed, retrieved 7 Sept 2026.

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