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Pre Implantation Genetic Diagnosis For Sickle Cell Disease Prevention

Sickle cell disease is a group of blood disorders that affects hemoglobin. It is an inherited blood disorder. When the healthy red blood cells with oxygen don’t flow through the body, the body becomes anemic and the risk of infections, organ damage also increases. Sickle cell disease is a disorder in hemoglobin that affects the newborn globally. Diagnosis of Sickle cell disease at the prenatal stage is important to look if the couple’s baby is going to have the disease too. The solution at this stage is Termination of Pregnancy. 

However, some people don’t like to opt for prenatal diagnosis or termination of pregnancy due to various reasons personal or religious. The options left for these couples who want a healthy baby is either to use a donor gamate or with the help of PGD they could find a bone marrow donor to have a child who could provide matching stem cells . Preimplantation Genetic Diagnosis is an alternative method of testing in those couples who don’t want to undergo Prenatal diagnosis and termination of pregnancy due to personal and religious reasons if the baby is found to have sickle cell disease. 

Preimplantation Genetic diagnosis took around 10 years to get established and to date five UK centers are licensed for this. For safe and effective treatment a team approach is necessary. The team includes various specialists such as genetic counselors, in vitro fertilization specialists. 

Does Preimplantation Genetic Diagnosis Help Diagnose Sickle Cell Disease?

Preimplantation Genetic Diagnosis is useful in diagnosing Sickle cell disease for those couples who don’t want to abort their fetus and for the couple who have Sickle cell disease but want a healthy child. 

Before the start of Preimplantation Genetic Diagnosis,  the only way to identify and prevent the fetus from transmitting an inherited genetic disease was Prenatal diagnosis. And the transmission of pregnancy is a solution if the fetus was found affected with Sickle cell disease too. 

Preimplantation Genetic diagnosis cost is in the budget for some but quite high for others since with time additional genetic tests are required in a few couples. Thus the cost varies from one person to another. 

Preimplantation Genetic Diagnosis cost 

The Preimplantation Genetic Diagnosis cost is a bit higher. Though most of the high-risk couples are undergoing this test to prevent termination of pregnancy to date PGD is not covered in health insurance plans. 

The cost of Preimplantation genetic diagnosis includes various other factors like the cost of in vitro fertilization, the cost of IVF medicines, and Genetic analysis cost. 

The total cost of IVF with Preimplantation genetic diagnosis and medicines along with frozen embryo transfer costs range from $ 16000 – $ 25000 in U. S.

The IVF cost with Preimplantation Genetic diagnosis in Delhi is Rs 150,000 – Rs  250,000, however, it could vary based on other co-related factors.  

What is IVF Preimplantation Genetic Diagnosis?

IVF and PGD are related in such a way that Preimplantation Genetic Diagnosis is a screening method performed on the embryo that is created from In vitro fertilization to check if the embryo is genetically normal. 

Preimplantation genetic diagnosis involves doing the test on the embryo from in vitro fertilization before transferring it to the uterus. The test is done to check for genetic abnormality and to be sure if the embryo is chromosomally normal. This screening is a laboratory procedure done to prevent the risk of inherited disorders like Sickle Cell Disease.

If there is a family history of Sickle cell disease and the couple wants to prevent the risk of passing the disease to their child PGD is the solution for them. However, this test takes a few months to complete before beginning the In Vitro Fertilization. 

PGD For Sickle Cell Disease PreventionHow Does Pre Implantation Genetic Diagnosis Work?

The PGD process is a long process that includes multiple steps along with a team of experts and the best laboratories.

A blood sample of the couple is obtained planning to have PGD and IVF. The DNA test development usually takes around 12 weeks or more. 

Karyomapping  ( a newer technique ) takes only a maximum of 2 weeks for test development. 

Karyomapping finds a fingerprint that is unique to the chromosome that carries the defective gene. The Embryo is tested for this fingerprint. When the fingerprint is seen in an embryo it means it has inherited the chromosome with a defective gene. 

Indications of Preimplantation Genetic Diagnosis 

Indications for PGD are – 

  1. Advanced age 
  2. IVF failures
  3. Genetic causes 
  4. Infertility 

Risks associated with Pre Implantation Genetic Diagnosis?

The risks associated with PGD are similar to the risks associated with IVF. The risks include infection, loss of blood, trauma. There is also a possibility that the test might not be 100 percent reliable as very small tissue is obtained for testing. 

Is Prenatal Testing Still Required After PGD

In PGD very minute amount of tissue is removed thus the chances of 100 percent accuracy are not possible. Thus it is advised Prenatal testing should be done to confirm that the fetus is unaffected by any chromosomal abnormality. 

Best Hospitals and IVF Centres  for Pre Implantation Genetic Diagnosis 

Various hospitals and IVF Centres where PGD is conducted are listed below –

  1. World Infertility and IVF Centre, New Delhi 
  2. Indraprastha Apollo Hospital, New Delhi 
  3. World Fertility and IVF Centre, New Delhi  

Final Note – PGD is highly recommended specifically to couples where parents have known genetic abnormality. It could be one or both of the parents. It is now a widely used technique to prevent heritable genetic diseases like Sickle cell Anemia. 

 

 

 

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