Our successful and innovative applications in this specialized field make us feel proud to be part to the birth of a healthy child
InterGenetics has been active and has unique experience in the field of preimplantation genetic diagnosis since 2003, with several leading applications, such as the treatment of children with chronic granulomatous disease following preimplantation genetic diagnosis and selection of a histocompatible brother.
During this time and up to 2015, we have carried out successfully the analysis of hundreds of samples for preimplantation genetic diagnosis of various common and rare gene disorders, for preimplantation genetic diagnosis coupled to HLA-matching, for preimplantation genetic diagnosis for structural chromosomal abnormalities and for preimplantation genetic screening for chromosomal aneuploidy (PGS), thus contributing decisively to the birth of healthy children in couples with reproductive problems.
Preimplantation genetic diagnosis (PGD) may be considered as an early form of prenatal diagnosis. It is a specialized process, in which we analyze the genetic material of an embryo derived from in vitro fertilization (IVF, in vitro fertilization) after biopsy of one or more cells, before implantation in the womb of the mother.
The procedure is not new. The first children subjected to this process were born at Hammersmith Hospital in London in 1989. Since then, thousands of these children have been born, and as far as we know today, these children are perfectly healthy.
PGD is a reproductive option that may be proposed in cases where the risk of having an affected child is high and the parents wish to avoid the possible termination of pregnancy after prenatal diagnosis.
It may be applied:
- in couples where both parents are heterozygous carriers of a recessive gene disorder (e.g. β-thalassemia, cystic fibrosis, etc.)
- in couples where one parent is affected with a dominant gene disorder (e.g. Huntington disease)
- in couples where the mother is a carrier of an X-linked recessive disorder (e.g. muscular dystrophy Duchenne, hemophilia, fragile X syndrome, etc.)
- in special cases, for the birth of a healthy and histocompatible child (PGD coupled to HLA matching), in order to treat an already affected child in the family (many successful applications)
- in couples where one parent is a carrier of a balanced chromosomal translocation (chromosomal rearrangements)
- in couples with multiple IVF failures and/or the mother is over 38 years, due to increased risk of numerical chromosomal abnormalities
The procedure is preceded by mandatory genetic counseling with a qualified medical geneticist. The goal of this meeting is to obtain a complete family history, provide information about the procedures and available tests in relation to the potential risk for having an affected child, to answer any other relevant questions and finally for the parents to provide and sign the required informed consent.
Our team has a unique experience in this field and has applied this process successfully in many cases-families, leading to the treatment of the affected child in the family.
Goussetis E, Konialis CP, Peristeri I, Kitra V, Dimopoulou M, Petropoulou T, Vessalas G, Papassavas A, Tzanoudaki M, Kokkali G, Petrakou E, Spiropoulos A, Pangalos CG, Pantos K, Graphakos S.
Successful hematopoietic stem cell transplantation in 2 children with X-linkedchronic granulomatous disease from their unaffected HLA-identical siblingsselected using preimplantation genetic diagnosis combined with HLA typing.
Biol Blood Marrow Transplant. 2010 Mar;16(3):344-9. doi: 10.1016/j.bbmt.2009.10.010.
Pangalos CG, Hagnefelt B, Kokkali G, Pantos K, Konialis CP.
Birth of a healthy histocompatible sibling following preimplantation genetic diagnosis for chronic granulomatous disease at the blastocyst stage coupled to HLA typing.
Fetal Diagn Ther. 2008;24(4):334-9. doi: 10.1159/000160665.
Konialis C, Hagnefelt B, Kokkali G, Pantos C, Pangalos C.
Pregnancy following preimplantation genetic diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
Prenat Diagn. 2007 Nov;27(11):1079-83.
