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Preimplantion Genetic Diagnosis Essay

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Define PGD
Preimplantion Genetic Diagnosis
PGD is an option for individuals at risk of passing on a dominant trait such as a specific genetic disease. PGD involves screening IVF generated embryos for genetic conditions before embryo transfer takes place, the unaffected embryos are then transferred to the uterus. This provides the opportunity to screen the embryos for genetic conditions before pregnancy is established.

Define IVF
In-Vitro Fertilisation
IVF is a process of fertilisation where the egg and sperm are manually combined outside of the uterus by extracting the egg and retrieving a sperm sample. Once the egg is fertilised, the embryo is then transferred back into the uterus to continue developing and forming a baby.

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The combination of these two procedures has improved the rate of successful pregnancies, as PGD reduces the chances of passing the undesired genetic material such as a genetic disorder on to the embryo.

Individuals who are requesting PGD first have to take an IVF cycle in order to stimulate the woman's ovaries to produce a number of eggs. The eggs are then collected and fertilised by the partners sperm. The embryos then undergo embryo biopsy where a single cell is removed from an embryo usually on Day 5/6 after embryo collection. Around this time, the embryo should be at the blastocyst stage, meaning they will contain an inner cell mass (eventual fetus) and also trophectoderm cells (eventual placenta). Embryos need these cells in order to be suitable for the biopsy. If the embryo has the desirable characteristics then a single cell is taken from the embryo. This is done by placing a small hole made in the outer shell of the embryo on day 3 of development, so therefore by day 5/6, some of the trophectoderm cells would have herniated through the small hole that was made in the outer shell of the embryo, therefore making it easier for these cells to be collected and analysed. To be able to get an accurate and safe test approx. 5 trophectoderm cells are removed in order to be genetically analysed. The DNA taken from this single cell is then analysed in order to determine a range of genetic characteristics (such as down syndrome) . Once determined

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