Preimplantation Genetic Testing for monogenic diseases (PGT-M) is the diagnosis of genetic and chromosomal alterations in embryos before they are implanted, in order to ensure that children are born free of hereditary diseases. This assisted reproduction technique always requires in-vitro fertilisation treatment (IVF) with sperm microinjection (ICSI).
In 30 years, the IVI Group has helped more than 200,000 dreams come true.
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In 2006, in a world first, IVI achieved the birth of a baby to a couple in which one partner was a carrier of lymphohistiocytosis, thanks to the technique of assisted reproduction with PGT.
PGT allowed the chain to be broken in chromosomal hereditary diseases carried by 72% of the embryos analysed in 2001. As such, thanks to the study of chromosomal abnormalities through the FISH and arrays techniques, around 50% of the embryos transferred resulted in pregnancy. PCR analysis of monogenic diseases led to a 54% pregnancy rate per transfer.
For couples who have been referred due to a monogenic disease, molecular diagnosis can identify whether embryos are genetically normal or whether they will be affected by the disease which has prompted the study. For couples for whom a chromosomal study is recommended, cytogenetic molecular diagnosis allows normal or balanced embryos to be identified in terms of the chromosomes which are included in the study.
The purpose of PGT is to analyse embryos in the laboratory following in vitro fertilisation and before they are transferred to the maternal uterus. A biopsy is performed and the embryos are analysed, allowing us to distinguish between the healthy ones and those which are affected. Allowing us to distinguish between the affected and unaffected embryos in order to improve the chances of having a healthy baby
The technique of assisted reproduction with PGT is the result of combining in vitro fertilisation with a biopsy of embryo cells by means of micromanipulation and cytogenetic molecular diagnosis techniques.
IVI has a dedicated PGT laboratory in which each case is studied on an individualised basis. Our high success rates, personalised treatment and the high qualification levels of the biologists and embryologists who work in our IVI laboratories have caused the group to become a benchmark in Spain for this technique. This is the case to such an extent that other Spanish health centres get IVI to carry out these types of analyses for them.
Every single cell in the human body has in its nucleus 46 chromosomes (23 from the sperm and 23 from the egg).
These chromosomes are formed of a substance called DNA which contains our genetic information. This information is distributed over thousands of tiny fragments known as genes. As such, there are two copies of every gene, one of which has come from the egg and the other from the sperm.
What abnormalities of the chromosomes and genes can cause diseases?