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Pre-Implantation Genetic Diagnosis (PGD)

What is PGD?

Pre-implantation Genetic Diagnosis (PGD) is a technique used in assisted reproduction whereby genetic defects can be identified in embryos before implanting them back to the uterus. To become parents of a healthy and normal baby is a dream of every couple. However, when both or either of the partner has any known genetic abnormality, they fear of it for passing on to their offspring. Basically, PGD embryo testing is a method used to recognize inheritable hereditary illness in the embryos. During PGD, embryos are tested to determine whether they carry any genetic abnormality so, the healthiest embryo can be implanted to the uterus to have a normal and healthy baby delivered.

PGD Cycle process | Australian Concept

PGD Cycle

Embarking on an Pre-implantation Genetic Diagnosis (PGD) cycle at Australian Concept Infertility Medical Center is a structured process designed to optimize the chances of achieving a successful pregnancy. Here’s a detailed breakdown of each stage within an PGD Cycle:

pgd genetic analysis

PGD Process and Stages

Embarking on the journey of Preimplantation Genetic Diagnosis (PGD) at Australian Concept Infertility Center involves a series of intricately planned stages aimed at ensuring the health and well-being of embryos before they are transferred during assisted reproductive treatments. Here is a detailed breakdown of the PGD process:

pgd diagnosis image for genes

1. Genetic Counseling:

In-Depth Assessment: Initiate the PGD process with a comprehensive consultation where our fertility specialists assess your medical history, familial genetic concerns, and reproductive goals.
Genetic Counseling: Receive expert genetic counseling to understand the implications of potential genetic disorders and the role of PGD in ensuring a healthy pregnancy.

2. Ovarian Stimulation:

If PGD is combined with IVF, the female partner may undergo ovarian stimulation to produce multiple eggs.
Subsequent egg retrieval is performed through a minor surgical procedure, ensuring a pool of embryos for genetic testing.

3. Embryo Development:

Traditional IVF techniques are employed to fertilize the retrieved eggs with the male partner’s sperm.
Monitored Embryo Development: The fertilized eggs develop into embryos in a controlled laboratory environment, closely monitored for their growth and progression.

4. Biopsy of Embryos:

On Day 3 or Day 5 of development, a small cell biopsy is conducted on each embryo. The biopsy involves extracting a few cells to analyze their genetic makeup while ensuring the integrity and health of the remaining embryo

5. Genetic Analysis:

Comprehensive Genetic Testing: The extracted cells undergo thorough genetic analysis, focusing on identifying specific genetic abnormalities or chromosomal disorders.
Screening for Specific Conditions: PGD allows screening for various conditions, such as single gene disorders, chromosomal abnormalities, or sex-linked disorders.

6. Selection of Healthy Embryos:

Based on the results of genetic testing, embryos free from identified genetic abnormalities are selected for potential transfer. The goal is to increase the likelihood of a healthy pregnancy while minimizing the risk of genetic disorders.

7. Embryo Transfer:

Selected embryos are gently transferred into the uterus during a minimally invasive procedure, guided by ultrasound for precision.
The number of embryos transferred is determined based on various factors, including the woman’s age and the results of genetic testing.

8. Preserving Extra Embryos:

After embryo implantation, there are extra embryos left that were not used. Couples are asked whether they want to freeze them for future use or dispose them off. As per their will, the embryos can be frozen as freezing them can help in another attempt in future and the couple will not have to go through all the grind of an IVF cycle again. Even if the attempt is successful, frozen embryos can be used to in case the couple decides to expand their family.

9. Confirmation of Pregnancy:

Thorough Pregnancy Testing: Confirm the success of the PGD-assisted pregnancy through comprehensive testing.
Continued Monitoring: Ultrasound monitoring continues throughout the early stages of pregnancy to track fetal development and ensure a positive outcome.

10. Follow-Up:

Emotional and Holistic Support: Throughout the PGD process, experience compassionate care that addresses both the emotional and physical aspects of your fertility journey.
Post-Pregnancy Support: Beyond the successful pregnancy, our team remains committed to providing support and guidance to ensure a positive post-pregnancy experience.

PGD help in Gender Selection

Besides detecting the transmission of any genetic disorder, PGD also helps in family balancing as it allows the couples to select the gender of the child. Couples, who already have a child of certain gender, are often interested to have their subsequent child of the opposite gender. At Australian Concept Infertility Medical Center, we use a combination of Intracytoplasmic Sperm Injection (ICSI) and Pre-implantation Genetic Diagnosis (PGD) which allows us to identify the gender. The combination of PGD with ICSI is the most accurate approach for determining the gender with about 99% accuracy.

PGD for Family Balancing

Every couple desires a balanced family, PGD embryo testing is a great choice for such couples to fulfill their wishes. FISH (fluorescent in-situ hybridization) technology is well accredited and established in infertility clinic all over the world which allows scientists to configure the embryos based on X and Y chromosome prior to implantation. This technique is also used during PGD to determine the gender of an embryo. During FISH technique, two DNA probes are used, each of which identifies X and Y chromosomes. The molecules attached to these probes light in different colors which helps the embryologist determine the gender of an embryo.

How accurate is PGD testing?

Data reveals that PGD is 99% accurate in determining gender at embryonic level of day 3. However, it is to be kept in mind that there is a 1% chance of failure. In addition to this, there is a rare chance that all embryos may be of same gender hence, no scope for selection. As far as genetic abnormalities are concerned, PGD is shows up to 98% accuracy.

Identification of any Genetic Abnormality

PGD proven to be quite helpful in determining any genetic abnormality in embryos. It is basically a technique used to identify any such abnormalities that may be transmitted to the embryo due to assisted reproduction. It is quite helpful when both or either of the partners have any known genetic abnormality which may be passed on to their children. When any or both of the parents have any known genetic abnormality, biopsy is carried out on the embryo to determine whether or not it carries the same. Diseases Diagnosed through PGD

 

  • Sickle cell anemia
  • Spinal muscular atrophy
  • Tay-Sachs disease
  • Fragile X syndrome
  • Myotonic dystrophy
  • Hemophilia A
  • Duchenne muscular dystrophy
  • Huntington’s disease
  • BRAC 1 & BRAC 2 genetic mutations

Is PGD testing always Successful?

Couples desiring to undergo or those undergoing PGD with ICSI/IVF should always keep in mind that it is not always successful. At Australian Concept IVF Clinics, each couple is counselled about the success rates. Besides, there are a number of factors upon which the success rate is dependent, such as:

  • Maternal age
  • Ovarian reserve
  • Quality of sperm
  • Development of embryo
  • Embryo survival post biopsy
  • Weight

Who Needs PGD

The main goal of PGD is to mitigate the risk of passing down genetic disorders to your offspring. Moreover, it is also useful for couples who desire to have a balanced family as it allows the parents to be to select the gender of their child. While it can be considered by every couple undergoing IVF, it is most beneficial for those who have a potential risk of passing on a known genetic disorder to their offspring. Besides, it can also be considered by:

  • Women who have had recurrent miscarriages
  • Women above the age of 37 years
  • Men with sperm disorders such as, poor motility or morphology, etc
  • Couples having a family history of chromosomal abnormalities and genetic mutations
  • Couples who desire to match stem cells in case of tissue donation to any family member
  • Women with a history of failed infertility treatments i.e., more than one
  • Couples who are carriers of sex-linked genetic disorders
  • Couple or either partner having history of “known” single-gene disorder i.e., Tay Sachs disease, Cystic fibrosis, etc.
  • Women who have experienced a pregnancy with chromosomal abnormality or genetic disorder
  • Couple or either partner with chromosomal translocation (chromosome is found at a place other than its normal location)

PGD Risk Factor

Benefits of PGD

PGD has numerous benefits. Through PGD you can:

  • Identify embryos that carry genetic disorders hence, not using them for implantation
  • Allow couples with known genetic disorders to implant an embryo which has significantly low risk of passing on the concerned disorder to their child
  • Significantly improve the chances of a successful and healthy pregnancy
  • Identify and select the gender of your child
Difference between PGD & PGS

PGD

PGS

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