Preimplantation genetic diagnosis is generally attributed as a test conducted for the preimplantation stage embryos or oocytes to assess for any kind of genetic defects. The type of genetic diagnosis is basically for the couples whose potential offspring is at the risk of having severe Mendelian disorders, mitochondrial disorders, or any structural chromosome abnormalities. As it’s a clearly stated fact, only unaffected embryos are transferred to the uterus for implantation.
One the Gaucher disease is usually caused by the Ashkenazi jews. It may vary from individual to individual and people can spend their whole lives without even knowing that and some can have very serious life-threatening symptoms. One might not be aware of the same and the only way to get it to check is to go for genetic carrier screening. It’s believed that in vitro fertilization with preimplantation genetic diagnosis is one of the safest options as it decreases the risk associated with the same and increases the chances of conceiving a child that doesn’t have any symptoms of Gaucher disease. Though the procedure involved might be long and painful, it’s one of the safest and best ways. Generally, through the process of IVF, the embryo is created and the ones that made it to 8 cells would generally have one cell extracted.
The extracted cell would be sent for preimplantation genetic diagnosis. Firstly there is a special probe conducted inside the genetic lab to determine and detect the unique mutation. The existence or lack of the probe would evaluate if the cell belonged to had Gaucher (2 copies of the mutation) or Gaucher ( 1 copy of the mutation, 1 normal copy) or is free of both the diseases and a carrier of the gene (no mutations, 2 normal copies).
One should always go for IVF with a preimplantation genetic diagnosis for Gaucher as it’s the safest and most appropriate way to determine the same. One of the couples that underwent IVF with PGD is one of the nicest examples to share. They went for IVF with PGD twice. In the first case, two embryos were implanted, one being a carrier of the Gaucher and the other being free from any sort of disease. In the second case, it resulted in beautiful twins. Again in this case one was a carrier of the disease and the other was normal. Sadly after some time one of the babies passed away due to an unrelated medical condition. But even after such cases, when the couple was asked to go for the same again, they were pretty much comfortable about the same and were completely ready to undergo the same. Invitro fertilization with PGD is one of the safest options to consider to monitor and evaluate if the conceived baby doesn’t carry any sort of genetic disease. Many people are opting for the technique without any hesitation and significantly reducing the risks associated.

Call Now