July 2017 was a special month for two families in which the high risk of genetic disease for their descendants was previously confirmed: very desired, and most importantly - healthy kids were born in these families. For the first time, children were born in Latvia and in the Baltic States with the help of preimplantation genetic diagnosis (PGD), which in both cases eliminated the inheritance of the genetic disease. Diagnosis was carried out in the iVF Riga Clinic Centre for Reproductive Genetics of the clinic.
After birth of the babies, iVF Riga laboratory carried out additional genetic testing of umbilical cord blood samples for both families. Analyzes results confirmed that the newborns did not inherit the mutations causing the certain disease. Consequently, the transmission of mutations from generation to generation in these families is stopped, and there is also no danger of inheriting the alleles of genes that cause family disorders for the future offspring of born babies.
Diseases, whose genes were analyzed in cases of these families, are less common than in 0.004% of the population, but in general, all genetic pathologies caused by the mutation of a certain gene (monogenic diseases) affect a significant part of the population.
PGD, or the analysis of monogenic diseases, allows to help families, in which children with genetic abnormalities have already been born, as well as in situations where parents are afraid to plan pregnancy, since they are informed that there is a high probability for their children to inherit a disease.
PGD method makes it possible to confirm or exclude the presence of already known monogenic disease in embryos of the 5th day of development before their transfer into the uterus. In parallel, chromosome analysis of embryos is also carried out to achieve a higher probability of the beginning and further development of pregnancy and the birth of a healthy child.
The method of preimplantation genetic diagnosis in iVF Riga clinic has been developed for various genetic disorders - both for transmitted from generation to generation (Huntington's chorea, achondroplasia) and for recessive ones, when there is a risk of having a sick child in healthy parents (Batten's disease, congenital Autosomal recessive ichthyosis), as well as for X-linked (connected with the X chromosome) transmitted disorders, when the risk of disease transmission is particularly high for boys (hemophilia, Duchenne muscular dystrophy). Gradually, the spectrum of pathologies analyzed in the iVF Riga Genetic center expands, and an individual diagnostic scheme is developed for each family.
Medical director and the leading reproductive specialist of the iVF Riga clinic, Dr. V. Fodina: “The birth of healthy babies is a holiday not only for their parents, but also for the whole team of our clinic. This was really very welcome event, and we feel joy for happy parents whose dreams have come true, and also satisfaction from the fact that our work has brought positive results. This fact shows how important and necessary is the opportunity to prevent the risks of many diseases for the birth of a healthy baby. The purpose of creation of the Centre for Reproductive Genetics iVF Riga is to make preimplantation genetic diagnostics available for the residents of our region now, and not in the distant future.”