First live birth in Greece after blastocyst trophectoderm biopsy and preimplantation genetic testing for Holt-Oram Syndrome

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 …

Intramyometrial ectopic pregnancy following in-vitro fertilization- a case report and review of literature

Chidinma Magnus Nwogu, Ayodeji Kayode Adefemi, Aloy Okechukwu Ugwu

Intramyometrial ectopic pregnancy is a very rare subset of ectopic pregnancy. It occurs when a pregnancy implants within the myometrium. The risk factors for this type of extrauterine pregnancy include previous history of uterine trauma such as myomectomy, caesarean section and dilatation and curettage. It can present with catastrophic outcome due to uterine rupture if undetected …

Perinatal outcomes following assisted reproductive technology: A Review of the Literature

Konstantina Papadatou, Eleftherios Zachariou, Vasilios Pergialiotis, George Daskalakis

Nowadays, infertility affects approximately 8-12% of the population. Μultiple causative factors are leading to the failure of subfertile couples to achieve a normal pregnancy, as well as various types of assisted reproductive techniques that have developed globally in order to confront infertility. Over the past few years, especially after the birth of the world’s first baby to be conceived by In Vitro Fertilization (IVF) …

Posted in 2022 Volume 21 – Issue 2 Tagged , , , , ,

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 …

Posted in 2021 Volume 20 – Issue 2 Tagged , , ,

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 …

Posted in 2018 Volume 17 – Issue 4 Tagged , , ,

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 …

Posted in 2017 Volume 16 – Issue 3 Tagged , , ,