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Preimplantation Genetic Diagnosis (PGD): Benefits and Procedure

  • 4.8 (6 Votes)
  • 40096 views

Preimplantation Genetic Diagnosis is a technology used along with IVF cycle for increasing the potential of a successful pregnancy. It is a test that includes removing the cells from embryos, through which the best embryos are selected to achieve a healthy pregnancy while avoiding the risk of passing any genetic disease to the baby.

PGD or Preimplantation Genetic Screening is suitable for all kinds of IVF cycles. It is beneficial for those couples who have increased risks for chromosome abnormalities or other genetic disorders. In a research, it is found that women above 38 years of age and men with sperm abnormalities may produce embryos with high level of chromosome abnormalities. Through this test one can identify which embryos have a normal amount of chromosomal material. 

PGD is designed for the identification of embryos which are affected or a carrier of any disease. Further, only good embryos are transferred to the uterus to attempt pregnancy. Hence, the chances of a baby born with any genetic defect are minimized. This article explains you about the usability of the PGD test, its contribution in enhancing the pregnancy rate in IVF cycles, how it is carried out and certain concerns that need attention. 

Preimplantation Genetic Diagnosis (PGD) Procedure

Preimplantation genetic diagnosis is done after 3 days of embryo formation during IVF process. When the embryos are 3 days old, they compose of 6-8 cells, which can be analyzed to evaluate the genetic material of the embryo. Hence, the total time duration starting right from the egg retrieval process to getting the PGD test result may extend upto several weeks. Once formed, the embryos are then tested using this technique to identify the presence of any type of genetic defect that may develop into a congenital abnormality in the resulting fetus. PGD is performed in the following step-by-step manner:

Selection of embryos

Embryos that qualify both normal test as well as appearance norms are selected to be transferred in a frozen embryo transfer cycle. Embryo morphology is most helpful in the selection of best embryos for transfer. It is observed that many embryos that show significant chromosomal abnormalities have normal morphology. So, PGD test results help in finding the best quality embryos to be transferred for achieving a successful and healthy pregnancy.

selection of embryos

Final decisions related to the transfer of embryos are taken after a detailed discussion between the well-versed doctor and the couple. After egg retrieval and fertilization, within the next two to five days, the embryo starts to divide into multiple cells. The process from egg retrieval to final results of PGD could take several weeks. This process includes collection, fertilization then two or five days of development, two weeks of testing and then scheduling an appointment for the discussion of results.

Now Let us study it in a step-by-step format:

  • Firstly, a number of cells are microsurgically extracted from the prepared embryos and the embryos are stored in a frozen state. 
  • In the second step, DNA extracted from the cells is evaluated to detect the presence of a faulty gene from parents that might have passed on to the embryo. This particular process takes around a week’s time. 
  • The embryos that are found to be healthy, which means that do not carry any genetic defect are then transferred to the uterus, which is then followed by the usual 2 weeks wait after which the pregnancy test is done. 
  • The rest of the additional embryos that have no genetic defect are stored in a frozen state for the future use. While rest of the embryos that are found to have genetic defects are straightaway discarded. The entire testing process can last for weeks together. 

Benefits of PGD

The PDG test is available for more than a hundred of different conditions. It gives the couple the privilege of evaluating the genetic characteristic of the embryo before being transferred to the uterus. It is a good option for the couples who have genetic issues, face recurrent miscarriages or have repetitive IVF failures. PGD ensures that only healthy embryos are transferred to the uterus.

benefits of pgd

PGD also helps in identifying the gender of the baby. It is used in many countries around the world to identify the gender of the baby before transferring into the uterus but PGD for gender selection is strictly prohibited in India.

PGD in India can be utilized to identify genetic issues only.

Who should opt for PGD?

This test is a breakthrough for those couples who have a genetic disorder running in their family history and thus, pose a risk of passing the same to their progeny.
A number of individuals who can get benefited from Preimplantation genetic diagnosis are the ones who have:

  • Single gene disorders
  • Chromosomal disorders
  • Sex-linked genetic disorders

Or

  • Women aged 35 and above
  • Women having recurrent pregnancy loss
  • Women with a history of more than one failed fertility treatment

Another use of PGD has been into gender selection.  It has been seen that embryos have been discarded just on the basis of gender, which is an ethical concern in various parts of the world. 

Advantages of Preimplantation Genetic Diagnosis (PGD)

Advantages of PGD are listed as below:

  • There are more than 100 genetic conditions that can be detected with the help of PGD.
  • It is done before the process of implantation therefore, the couple has the right opportunity to decide about the continuation of the pregnancy.
  • It allows the couple to have biological children who would have avoided trying to get pregnant in other conditions.

advantages of pgd

Limitations of PGD

Just like any other technology, preimplantation genetic diagnosis too has certain limitations. Following is the list of limitations of PGD testing that should be thoroughly considered:

  • The embryos that get discarded in the PGD process is considered unethical by many as it is believed that destroying an embryo is equal to destroying a complete life.
  • PGD alone cannot eliminate all the possibilities of an embryo having a genetic defect. Sometimes, it is important that the fetus is tested further at the starting of pregnancy to rule out the presence of a genetic disorder.
  • In other cases, there are certain disorders that surface only as the carrier reaches a certain age, for example during middle age. In such cases, the probability of developing the disorder has to be thoughtfully discussed with the doctor.
  • No matter how accurate the testing might be, preimplantation genetic diagnosis can never be an alternative for prenatal testing.

Preimplantation genetic diagnosis is a new-age technique that has opened new avenues for those who have feared away because of passing an unwanted inheritance to their next generation.  It is important that you know every aspect about the testing process that may take several weeks before getting the final result. The entire process can be summarized as sperm and eggs collection, fertilization and 5 days of developing embryos followed by one to two weeks of testing. The end stage is of discussing the results with the specialist.

If you feel that PGD is your option, then begin with an in-depth discussion with your doctor, genetic counselor about its viability in your case. Apart from this make up your mind and know what to expect during the process.

Dr. Deepika Tiwari

About The Author

Obstetrician Dr. Deepika Tiwari
Gurgaon

Dr. Deepika Tiwari is an infertility specialist and obstetrician who specializes in Normal vaginal delivery, Cervical cerclage, Infertility treatments, Urinary Incontinence Treatment and Gynecology problems. Dr. Deepika completed MBBS and MS in Obstetrics and Gynecology in the year 2003 and 2008 respectively. Dr. Deepika is a member of Federation of Obstetrics and Gynecological Societies of India (FOGSI). Presently, Dr. Deepika Tiwari is practicing her expertise at HCL Healthcare Clinic, Sector 54, Gurgaon and Cloudnine Clinic, Sector 56, Gurgaon. For more information about Dr. Deepika Tiwari, visit elawoman.com

SOURCES AND REFERENCES:

  1. Sperm facts - sperm count, how long sperm can live and much more sperm, Elawoman - 2017
  2. Procedure, benefits and setbacks of sequential embryo transfer (set) embryos, Elawoman - 2018
  3. Embryo development stages embryo formation, Elawoman - 2017
  4. What is in-vitro fertilization (ivf) and its needs IVF process, Elawoman - 2017
  5. How long does ivf take from start to finish? egg retrieval process, Elawoman - 2018
  6. Benefits of embryo freezing and egg freezing frozen embryo, Elawoman - 2018
  7. Must know risk factors of pregnancy after 30 healthy pregnancy, Elawoman - 2017
  8. Repeated ivf failures, common causes and tips to prevent it IVF failures, Elawoman - 2017
  9. The step by step guide to trying to conceive trying to get pregnant, Elawoman - 2017

6 Comments

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Abhisekh Kripalani

PGD is the best option for the couples who cannot conceive and have miscarriages but this method shouldn't be used as gender selection process.

Oct. 11, 2018, 1:13 a.m. 4.5

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Sujata Baxi

I never knew these options are available for the couples. It was knowledgeable, thanks for sharing.

Oct. 7, 2018, 6:08 p.m. 5.0

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Pulkita Rathore

What if I don't produce healthy embryos, does the treatment will fail or we have some other options too?

Oct. 5, 2018, 4:10 p.m. 4.5

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Jigyasa Rawat

My three pregnancies resulted in a miscarriage. Now, I am considering PGD IVF to have my child.

Oct. 4, 2018, 9:51 a.m. 5.0

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Karishma Negi

My husband has a genetic disorder in my eyes. I think we should also opt for PGD to complete our family.

Oct. 4, 2018, 4:32 a.m. 5.0

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Vrajakishore Giridhara

Oct. 3, 2018, 11:57 a.m. 4.5

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