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Noninvasive Prenatal Diagnostic Assay for the Detection of β‐Thalassemia

Abstract:  The development of a noninvasive method for detection of β‐thalassemia in the population of Cyprus is based on the detection of paternally inherited single nucleotide polymorphisms (SNPs) as well as β‐thalassemia (β‐thal) mutations. We selected 11 informative SNPs for the Cypriot population linked to the β‐globin locus. Two different approaches were used: allele‐specific polymerase chain reaction (AS‐PCR) and the arrayed primer extension (APEX) method. The AS‐PCR approach is being standardized, and the method was applied in two families. The paternally inherited allele was noninvasively detected with the AS‐PCR approach on maternal plasma. Some preliminary tests were performed with the APEX method on genomic DNA of parents carrying the β‐thal mutation.