What genetic diseases can be prevented using PGD?
Any genetic disease or the long-term chronic ailments that could be passed on from one parent or from the both to their newborn offspring with a known mutation that can be prevented using IVF and PGD. Some of the major genetic diseases that can be prevented using IVF and PGD technique include: Cystic Fibrosis, Tay-Sachs Disease, Sickle Cell Anemia, Spinal Muscular Atrophy, and Thalassemia.
What are the steps and duration of an IVF journey with PGD?
Before completing PGD technique, the inherited or genetic disease that one or both parents carry must be identified through genetic screening or PGD. Once the genetic abnormalities or disease has been identified, completing PGD with an IVF-ICSI cycle does not change the duration of the IVF treatment. Following with the Egg Retrieval, if the eggs are fertilized successfully, a biopsy is taken from each embryo and tested through PGD technique. The healthy embryos are then transferred to the uterus. The following steps take place over 15 to 20 days.
Is it possible to complete Gender Selection with PGD?
Yes, Gender selection may be completed at the same time as PGD technique and if you would like to further screen embryos for chromosomal abnormalities, Be sure and don’t forget to discuss Chromosomal Screening option with your physician
What are the advantages of Pre-Implantation Genetic Diagnosis (PGD)?
In PGD technique the embryos are chosen and selected before pregnancy occurs, family balancing in PGD reduces the chance of termination of pregnancy, miscarriage or abortion if desired sex is not achieved in the treatment. The embryos in IVF treatment are diagnosed to detect the genetic abnormalities or disorder, which simply means that only the healthy embryos get the chance and are selected to get into the womb. In the process of PGD, there are some left-over embryos after the IVF treatment, which can be stored in a frozen condition or embryo freezing can be done in the lab and can be used in case of miscarriage or at the time of next pregnancy.
What is genetic testing?
It is possible to analyze an individual’s DNA to determine whether there are disease-causing mutations present. This analysis is called genetic testing. Depending on the type of mutation that is to be detected, the testing technique may vary. Sequencing is one of the most common techniques – it involves reading the DNA sequence letter by letter. This can reveal mutations like an insertion, deletion or a replacement of a total DNA segment.
Do I need genetic testing?
You should discuss this with your physician, especially if you fall into one or more of these categories:
- Those who have symptoms of a genetic disease and want to get it diagnosed
- Those who have a family history of a specific genetic disease and want to predict their susceptibility even if they have no symptoms at the moment
- Those who belong to an ethnic group that is prone to a specific genetic disease
- Those who carry a mutation but are not affected themselves, although there is a risk of their children being affected
What are mutations?
Sometimes the DNA can carry a “mistake” in it, resulting in a change of the sequence of the gene. Such sequence changes are also named as “variants”.
Some examples of these changes include:
- Replacement of one part of the sequence with another (like a spelling error)
- An insertion/deletion of a small or large part of the sequence.
Some of these changes are harmless (benign) while others can cause disease and are called mutations.
What types of diseases can be diagnosed with genetic tests?
Genetic testing is most reliable for so called monogenic disorders. These are diseases that are caused primarily by a mutation(s) in a single gene. We know of about 5,600 single gene diseases today and CENTOGENE tests for all of them. Genetic testing can also be used to detect somatic mutations.
Genetic testing for other common diseases, caused by a combination of genetic and environmental factors.
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