PGD/Pre Implantation Genetic Diagnosis

Pre Implantation Genetic Diagnosis is technique involving testing of the embryos for genetic disorders that enables couples to diagnose the inherited condition in their family before the transfer of the embryo to  the  womb and even before the pregnancy has started and thus avoiding the passing over it to their children . PGD thus prevents the expecting parents to give birth to new life with serious genetic disorders.

PGD

PGD is preferred when either one or both the parents have a already known genetic disorders.

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PGD preferred for Patients having :

Patients who are already  facing the consequences of genetic disorder or are the carriers of the abnormal genetic condition are advised with PGD.  These couples being a carrier of abnormal gentic conditions have one or the other time have faced the loss of enjoying the parenthood due to the child affected with those gentic abnormalities. So the couples advised with PGD treatment primarily include:

  • Couples with Family history of sex linked disorder like couples facing history of sex linked disorders have 25 % risk  of giving delivery to new life with genetic abnormalities during each pregnancy .
  • Partners with Chromosomal disorders
  • Partners as carrier of serious autosomal dominant condition face 50 % probability  of delivering affected child  for each pregnancy .
  • Partner as carrier of serious autosomal recessive condition have 25 % probability of delivering as affected child.

Procedure to be followed for PGD:

PGD treatemnet is completed in 8 steps as follows:


Stimulation of Ovaries

For creation of embryos for genetic testing to bw done in this process,the ovaries need to be artificially stimulated for the production of no of eggs at a single time using hormones.

Huge no of embryos are to be created for the high success rate because enormous amount of embryos are likely to be affected by the genetic abnormalities and thus few will lead to success in pregnancy .


Egg’s Collection from ovaries

At the required time the eggs retrieval is done from ovaries and once removed  those eggs are tested  in laboratories for determination of mature and normal appearing eggs.


Insemination/Injection Of sperm

Eggs retrived under PGd are fertilized by one of the two techniques either by IVF or ICSI

IVF(In Vitro Fertilisation): In  this the eggs and the sperms are placed together in a medium for fertilization to occur and used primarily for chromosomal abnormalities or the sex linked condition.

ICSI(Intracytoplasmic Sperm Injection: In this the egg is injected with the single sperm in its centre and is used in conditions caused by single faulty or abnormal gene.


Fertilisation

Next Day after step 3 is performed ,the examination by embryologist is done carefully for each egg to see if the fertilisatioj has occurred or not.


Embryo Biopsy

Fertilised eggs of step 4 are further kept in laboratory for 2-3 days for growth purpose until the cells divide and the embryo consists of 8 cells.Further 1 or 2 cells are removed by the embryologist from the embryo and this removal process should not be harmful for the embryo.

This highly specialized technique is performed by special embryologist only having license from HFEA(Human Fertilisation and Embryology Authority)

Trophectoderm Biopsy

Rather than the process of cell  removal and its  testing 1-2 cell from 2-3 days old embryo,the hospitals may allow the embryo development for approximately 5-6  days in th clinics only when there are multiple cell in 100-150 range.Because of the possibility of removal of cells is more at this stage  from trophectoderm ,thsis trophectoderm biopsy can lead to much better diagmostic test report .


Embryo Testing

The embryo’s cells are tested to observe if the embryo which the cells were removed are having some abnormality in its genes that are responsible for the genetic disorders in family.


Embryo Transfer

If the diagnostic reports results negative for the genetic conditions for which the Embryos cells were tested then their transplantation is done into the woman’s uterus.


Pregnancy Test

2 weeks after the process of embryo transfer the pregnancy test is conducted  and its positive results assures the potential couple that atleast one embryo has been implanted .
This ensure the potential couple to be  the parents and give a chance to new life to njoy the beauty of earth .



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