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Updated: Jun 29, 2026
Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
Arrayed primer extension for the noninvasive prenatal diagnosis of beta-thalassemia based on detection of single
Thessalia Papasavva1, Ioannis Kalikas, Andreanni Kyrri
1The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus. thesalia@cing.ac.cy
Abstract:
beta-Thalassemia is one of the most common autosomal recessive single-gene disorders in Cyprus. Development of a noninvasive prenatal diagnostic (NIPD) assay for beta-thalassemia is based mostly on the detection of paternally inherited single nucleotide polymorphisms (SNPs) using the arrayed primer extension (APEX) method. Eleven SNPs with high degree of heterozygosity in the Cypriot population were selected and analyzed on 34 families and the informative SNPs were determined. The APEX assay was used on maternal plasma of seven families using the informative SNPs; paternal allele of the fetus was noninvasively detected in five families.
