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The Power of IVF with Preimplantation Genetic Testing

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Let me take you back, two years ago a young couple with a very rare genetic disorder approached us. They had a 3-year-old young male child conceived naturally who was bedridden. The child was normal until he was 6 months, but his parents realized that he was unable to keep his neck stable & faced difficulties to stand on his own. After consulting a pediatrician the child was diagnosed to have an inherited a rare genetic disorder called Sandhoff’s disease. This is caused by an abnormal gene that interferes with certain enzymes causing degeneration of nerves. Unfortunately, there is no specific cure for this disease.
The affected individual ends up in a vegetative state & has a life expectancy of not more than 3-4 years. In this case, the father was the carrier for this defective gene. Carrier is a person who carries the defective gene but does not have any ill effects (symptoms) related to it. However, he can transfer the defective gene to his offspring & they can be affected or carriers of the same disorder. After an extensive session with the couple and multiple rounds of counseling involving the reproductive medicine specialist, reproductive geneticist & clinical embryologist this couple was recommended to undergo Preimplantation Genetic Testing (PGT).

Preimplantation Genetic Testing involves the couple to go through the regular IVF Genetic Testing cycle to create embryos in the lab. One or few cells of each embryo are then removed (Embryo biopsy) and analyzed for their genetic content. Out of 4 embryos that were obtained from this couple only one embryo was normal (without the defective gene) & was transferred back to the uterus. They now are parents to a healthy child.

PGT: Preimplantation Genetics testing involves either:

1. PGD (Preimplantation genetic diagnosis): Embryos are screened to identify only a specific defective gene(s) which either of the parents or one of them would have inherited for eg: thalassemia, sickle cell anemia, Duchenne muscular dystrophy etc

2. PGS (Preimplantation Genetic Screening): In this method, the embryos are screened not to identify a specific defect but to identify an abnormal number of chromosomes inherited. This is done in couples with no genetic disorder. Following patients can benefit from PGS:

  • Female partners age > 35 yrs,
  • History of repeated abortions (either naturally or with IVF/IUI)
  • Failure to get pregnant with repeated IVF attempts
  • Infertility due to severe male factor (very poor semen sample ).

This is an advanced procedure requiring micromanipulation of the embryos with special types of equipment training & skill. Since the birth of the first child through PGD in 1989 in London, this technique has undergone a lot of refinement. We at Manipal Fertility are proud to let you know that we have successfully handled 104 cases with a success rate of 60 %. Many couples have experienced success through this method. If you have any questions about genetic screening prior to pregnancy, please feel free to get in touch with me at info@manipal.fertility

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