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preimplantation genetic screening & Preimplantation genetic diagnosis

To minimize the risks of genetic diseases couples are advised to undergo genetic testing

When we talk about alternative birthing or infertility solutions, genetic disorders are the first risk people think about. To minimize the risks of genetic diseases, couples willing to undergo infertility treatment like IVF are advised to undergo genetic testing. This genetic testing is of the embryos after the fertilization process, after which they are implanted in the uterus.

Through Preimplantation Genetic Diagnosis & Preimplantation Genetic Screening, embryos are tested for genetic disorders; if no diseases are found, they are implanted in the uterus. Going for PGS/PGD does not necessarily mean that the couples have some genetic disorders that can be passed down to their baby. In many cases, there might not be any issues.

What is PGD & PGS?

PGD: – It is a type of genetic screening to detect genes having specific diseases. The diseases that can be diagnosed are as follows –

  • Huntington’s Disease
  • Exchange of Chromosomal material that may cause a miscarriage, mental retardation, or birth defects.
  • Marfan Syndrome
  • Cystic Fibrosis
  • Hemophilia
  • Duchenne Muscular Dystrophy
  • Abnormal number of chromosomes

PGS: – This type of screening determines whether the cells in the embryo have the appropriate number of chromosomes (23 pairs) or not.  More or less number of chromosomes is one of the most prominent reasons behind embryos fail to be implanted in the uterus. This possibility of an abnormal number of chromosomes increases as the woman’s age increases. It is not a disease-specific test. It just detects the abnormalities of the chromosomes.

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Why recommended?

PGD & PGS treatment is suggested for those couples who have genetic issues or are vulnerable to genetic disorders. These tests are performed to detect the genetic disease before the embryos get implanted to prevent the disorders from passing to the next generation. These tests are also recommended to avoid multiple pregnancies.

The procedure

  • Ovulation Induction: – The first step is Ovulation Induction; in this step, medications are given to help your body produce mature eggs that can be used for fertilization.
  • Egg Retrieval:– In this step, the mature eggs are taken out of the female body. Medicines are given to help you relax, after which your doctor would use ultrasound to examine the body. Then a thin and hollow tube with a needle on top, attached to a suction device, is inserted into the ovary & follicles to pull out eggs.
  • Insemination: – In this procedure, the eggs and the sperm cells are put together in a container to be fertilized. (embryos)
  • PGS/PGD:– After the embryos reach the blastocyst stage, a few cells are taken out for the test.
  • Embryo Transfer:In this step, the embryos are transferred into the uterus if no genetic diseases are found.

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Benefits

  1. Improved embryo selection: –As the embryos are closely examined, the ones with genetic diseases or other abnormalities are eliminated.  And the healthy ones, or a single embryo, is implanted into the uterus, which ultimately reduces the risk of multiple births.
  2. Prevent genetic transmission of unknown abnormalities: – PGD & PGS testing help with detecting even some unknown genetic diseases.
  3. Quicker time to pregnancy: – These tests improve embryo quality, increasing pregnancy success rate.

Risks & side effects

Additional time & costs: – These tests require time, and as it is not a part of the IVF process, you must pay extra. Other than this, these testing processes don’t do any harm. Instead, it improves your entire IVF process.

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