Case Report

First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for hereditary angioedema

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 …

Research Article

Evaluation of in vitro fertilization outcomes using the FMR1 CGG repeat level and genotypes as a potential marker

Charalampos Theofanakis, Eleni Theochari, Depy Mavrogianni, Christianna Sofokleous, Peter Drakakis, Andreas Pampanos, Sofia Kitsiou-Tzeli, Dimitrios Loutradis

Introduction: The correlation between FMR1 and ovarian function is a relatively new field of research. It has been stated that premutation carriers present with higher rates of premature ovarian failure, compared to the general population. In the present study, we attempted to correlate the distribution of FMR1 CGG level and genotypes with the outcome of in vitro fertilization protocol between good and poor responders …

Case Report

First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic diagnosis by karyomapping

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 …