Konstantinos A. Economou, Chrysanthi Bili, Lina Florentin, Fotios Thymis, Dimitrios Papanicolaou
Preimplantation genetic testing for monogenic/single-gene defects (PGT-M) is a well established tool in assisted reproduction. A couple, where the male was a carrier of the c.709C>T (p.Arg237Trp) pathogenic variant (autosomal dominant) of the exon 7 of TBX5 gene causing Holt-Oram syndrome (HOS) attended our clinic for PGT-M. The father and their first baby boy …
Konstantinos A. Economou, Chrysanthi Billi, Lina Florentin, Anastasios Pachydakis, Ioannis Sintoris, Minas Mastrominas
Preimplantation genetic testing for monogenic/single-gene defects (PGT-M) is a well established tool in assisted reproduction. A couple, where the male was carrier of the c.550G>A (p.Gly184Arg) mutation of the SERPING 1 gene causing hereditary angioedema (HAE) attended our clinic for PGT-M. Employing a strategy of preserving embryos after blastocyst trophectoderm biopsy by vitrification cryopreservation …
Economou A.K , Wells D, Christopikou D, Tsorva E, Davies S, Mastrominas M
Preimplantation genetic diagnosis for single gene defects is a well established tool in assisted reproduction. Karyomapping is a genome-wide parental haplotyping technology using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects and the majority of aneuploidies from the same embryonic sample post embryo biopsy. A couple, carriers of different cystic fibrosis (CF) mutations …