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Pre-implantation genetic diagnosis

Pre-implantation genetic diagnosis


If you have a history of genetic defects in your family or have had (spontaneous) repeated pregnancy losses, you should try to make a preventative genetic diagnosis before implantation (PGD). PGD ​​tests can help you determine the health of your embryos before being implanted during fertility treatment. These can help you increase your chances of completing a healthy pregnancy.
Definition
Pre-implantation genetic diagnosis (PGD) is a testing procedure, used to detect unhealthy (sick) embryos before being transferred to your uterus during IVF treatment. Developed in the 1980s, the PGD test is used to detect specific problems of genes or chromosomes of the embryo.

During the early stages of development, the cells of your embryo are analyzed for the detection of genetic abnormalities. By detecting genetic problems before implantation, unhealthy or defective embryos can be eliminated, allowing only healthy embryos to be implanted during fertilization.
indications
Pre-implantation genetic diagnosis is, however, a fairly new technique in fertility treatment. It is only available in major fertility clinics and is recommended for couples with a history of genetic or other life-threatening diseases. Many couples are reluctant to give birth to children for fear of transmitting a dangerous genetic defect. Genetic diseases can often have a major impact on a person's life, causing physical and emotional problems, development or even death. PGD ​​is intended to help couples prevent the transmission of these genetic diseases to their children.
in particular, couples doing PGD tests fall into one of the following 3 categories:

  • persons with only one defective gene, which often has a family history of genetic diseases
  • persons with chromosomal defects
  • persons with chromosomal rearrangements who have had multiple pregnancy losses.
    What diseases can GDP detect?
    Researchers can now highlight specific chromosomes for certain diseases, including:
  • X chromosome: Duchenne muscular dystrophy, Fragile X chromosome syndrome, Turner syndrome
  • Y chromosome: acute myelolukemia
  • chromosome 13: Wilson's disease, breast cancer, ovarian cancer
  • chromosome15: Tay-Sach disease, Marfan syndrome
  • chromosome 16: alpha thalassemia, polycystic kidney disease
  • Chromosome 17: Charcot-Marie-Tooth Disease
  • chromosome 18: pancreatic cancer, Niemann-Pick Disease
  • chromosome 21: Dawn syndrome
  • chromosome 22: chronic myeloid leukemia.
    Benefits
    There are a number of benefits to using PGD. If you already have a child with a genetic disorder, PGD tests can prevent the transmission of the genetic defect to other children. PGD ​​tests can help limit the number of implant failures or spontaneous abortions because they prevent the use of diseased embryos. Pre-implantation genetic diagnosis (PGD) can also help limit the chances of having twins or multiple pregnancies.
    disadvantages
    There are some disadvantages of using PGD tests to conceive a child. PGD ​​tests can only be used in vitro fertilization, which is not associated with the highest chance of success for all couples. PGD ​​tests are in conflict with the religious or moral views of certain individuals. Because some embryos will be destroyed, you may feel uncomfortable with the idea of ​​using PGD tests to conceive a child.
    How to do it
    The technique of pre-implantation genetic diagnosis (PGD) is a rather complex procedure, which requires a highly qualified endocrinologist specialized in reproduction. PGD ​​tests can only be performed when the couple chooses to use IVF. PGD ​​tests can usually be performed relatively quickly to ensure the healthy embryo is implanted in time.
    The PGD test procedure involves a number of steps:
  • you will be treated with fertilization drugs, such as Clomid, to induce ovulation
  • Once you have ovulated, some of your eggs will be extracted for fertilization
  • In the clinic lab, your eggs will be fertilized with your partner's sperm
  • after about 3 days, or once your embryos have grown to the 6-12 cell stage, PGD testing can begin
  • a small hole is made in the outer membrane of your embryo and a cell will be extracted; this will not affect the development of your embryo
  • DNA is extracted from the cell nucleus; it will then be analyzed using a procedure called polymerization chain reaction (PCR) to detect any genetic abnormalities
  • any unhealthy embryo will be eliminated, while the remaining healthy embryos will be implanted in your uterus.
    Costs
    Unfortunately, because it is so complicated and unavailable, pre-implantation genetic diagnosis (PGD) is a very expensive procedure. You will need to do in vitro fertilization which generally costs over $ 12,000. PGD ​​testing can be combined with in vitro fertilization for an amount between $ 2,500 - $ 4,000. These procedures are not generally covered by medical insurance