Preimplantation Genetic Testing (PGT)

What is PGT?

Preimplantation Genetic Testing (PGT) is a type of genetic screening test in which embryos are examined for genetic defects before implantation during in vitro fertilization. In a country like Pakistan, where one in every 300 live births is diagnosed with Down syndrome, this test is a true boon. An additional copy of chromosome 21 is the genetic cause of Down syndrome. Developmental delays, mental retardation, and unique physical characteristics result from it. It presents difficulties for parents.
Not only Down Syndrome but early identification of so many other detectable hereditary diseases is possible now with PGT, which lessens the challenges for parents. With the development of PGT, it is now achievable to perform carrier screening for individual genes and gender detection in addition to chromosome testing. By detecting chromosomal abnormalities, PGT aids in the selection of healthy embryos during intracytoplasmic sperm insemination (ICSI) and in vitro fertilization (IVF), thereby enhancing the rate of fertility treatment results and successful pregnancies and reducing the rate of miscarriages and implantation failures. Here are some types of PGT testing.

PGT-A with 5-Chromosomes Screening

PGT-A with Five chromosomes examines embryos for the following chromosomes: 13, 18, 21, and the X and Y sex chromosomes. This test minimizes the likelihood of transplanting an embryo with chromosomal abnormalities related to the duplication or addition of any of the above chromosomes. It also permits the identification of each embryo’s gender.

PGT-A with 24-Chromosomes Screening:

All 23 pairs of human chromosomes, including the sex chromosomes, are screened by this type of genetic testing. Before the embryo transfer, it diagnoses chromosomal abnormalities, allowing for better decision-making for parents and a higher chance of having a healthy baby.

PGT-M (Preimplantation Genetic Testing for Monogenic Disorders):

PGT of this type focuses on single-gene illnesses. It highlights specific genetic alterations linked to monogenic diseases. PGT-M enables the selection of embryos unaffected by specific genetic disorders. Families with a history of certain genetic illnesses, such as sickle cell anemia, thalassemia, and cystic fibrosis, benefit from PGTM. PGT-M helps prevent the transmission of monogenic (single-gene) disorders from parents to their children. PGT-M helps parents prevent from passing on monogenic (single-gene) diseases to their children.

Preimplantation Testing for Polygenic Disease (PGT-P):

PGT-P is a type of genetic testing during IVF that evaluates genetic susceptibility for diseases with many factors. Suppose testing embryos for a wide range of genetic variations linked to complicated disorders like diabetes mellitus, breast tumors, and heart diseases rather than carrier screening for a single gene. The goal of PGT-P is to lower the likelihood that children may have any of the polygenic disorders.

Who Should Consider PGT?

  1. Repeated Implantation/IVF failures:

    Even with high-quality embryo transfers, many patients have recurrent implantation failures, resulting in the loss of precious time and financial resources. PGT increases the success percentage of IVF treatments by identifying embryos having chromosomal and genetic defects.
  2. Advanced Maternal Age:

    Because of modifications caused by age, women over 35 are more likely to give birth to embryos that have chromosomal abnormalities. PGT helps identify viable human embryos, increasing the likelihood of a healthy pregnancy.
  3. History of Hereditary Diseases:

    PGT should be taken into consideration by couples who are known to be at risk of passing on specific genetic illnesses. A specialist does prior genetic screening of the couple and prepares a parental genetic abnormality profile. PGT-M guarantees to pass on safe and healthy embryos by directly targeting those genetic abnormalities screened in the parental profile.
  4. Repeated Miscarriages:

    PGT may be helpful for couples who have a history of multiple miscarriages. It lowers the possibility of transferring embryos with chromosomal problems by enabling testing for genetic variations, thus increasing the success rates of antenatal growth and delivery of the baby.
  5. Family Balancing:

    PGT is an effective technique for gender selection or family balancing, enabling potential parents to reach well-informed decisions during ICSI and IVF. PGT has a built-in advantage that determines each embryo’s gender based on the chromosomal data found through screening.

Stepwise Process of PGT:

  • A standard IVF cycle is the first step in the PGT genetic testing process. An IVF specialist doctor administers regular stimulation injections to the females and extracts the eggs as they mature.
  • After that, embryologists inject healthy sperm into the eggs and then place the resultant embryo in an incubator to grow.
  • A tiny portion of cells are removed from an embryo when it reaches Day five or six of development, often known as the blastocyst stage.
  • After that, an IVF center transfers the extracted cell to a genetic embryology lab for analysis.
  • Depending on the sort of test ordered, the facility doing the embryo testing will subsequently examine the embryos for any chromosomal abnormalities or certain genetic diseases
  • The IVF center receives the results and plans the transfer of embryos according to the results.

Benefits and Considerations:

  1. Reducing the Risk of Genetic Disorders:

    PGT locates the precise genes that cause more than 500 identified genetic disorders. It lowers the possibility that a couple will have a kid with one of these disorders by evaluating embryos. PGT also identifies chromosomal abnormalities that may cause miscarriage, conception failure, and the birth of a baby having a syndrome such as Down syndrome.
  2. Carrier Screening of Single-Gene Disorder:

    PGT-M can be beneficial for couples who run the risk of passing on an existing familial hereditary disease to their children. Typical disorders are Huntington’s disease, muscular dystrophy, and fragile X syndrome. PGT-M minimizes the chance of transmitting genetic disease while giving them the ability to have healthy kids.

    To identify the precise gene sites that cause the disease or designate parents as carriers, genetic carrier screening requires a series of blood tests of parents. Using the information from these tests makes it possible to identify the defective genes in the embryo.
  3. Higher IVF Success Ratios:

    PGT’s genetic testing procedure increases the likelihood that each embryo transferred will result in a healthy baby. Limiting the number of repeated implantation failures and only transferring good-quality embryos, PGT raises the success rate of in vitro fertilization.
  4. Consideration of Gender Selection and Family Balancing:

    Family balancing refers to a couple’s informed choice of a gender that is not always required medically. Couples prefer to have an equal number of male and female children to build a balanced family structure. Those having female kids may strive to balance the gender by attempting a son. Even though it could appear harmless, it’s necessary to consider how these activities may affect personal freedom, gender equality, and ethical considerations in larger contexts. One inherent benefit of PGT is that it may identify the gender of each embryo by using the chromosomal information gathered via screening and gives rights to the parents to choose the gender of the baby before embryo transfer.

PGT and Australian Concept Infertility Medical Center

Australian Concept is a renowned institution that offers world-class infertility treatments and assisted reproductive technology (ART). Under the direction of Dr. Syed Sajjad Hussain, the facility has been at the forefront of infertility treatment since 1998. There is also an excellent IVF lab at this IVF facility. It is present in the major cities of Pakistan. It employs several internationally renowned IVF specialists and embryologists with advanced training. There is also an excellent IVF lab at this reproductive facility. It is present in the major cities of Pakistan. Numerous genetic testing and screening tests, such as PGT, PGT-M, PGT-P, PGD (Preimplantation Genetic Diagnosis), and SAT (sperm aneuploidy testing), are available at this esteemed center. ACIMC provides chromosome testing, family balance, and all forms of carrier screening. In addition to its benefits, a top-notch IVF facility such as the Australian Concept Infertility Medical Center is the best place to carry out PGT.

The Cost of PGT

Microscopical examination, delicate procedures, and significant advantages make PGT an expensive test. The PGT costs vary according to location, facility, and the number of embryos tested. It is worth testing since it can dramatically raise the likelihood of transferring a genetically sound embryo and experiencing a healthy pregnancy. The exact cost range of PGT according to the number of embryos undergoing screening is as follows:

Restrictions of PGT Testing:

During a genetic counseling session, the IVF specialist discusses the restrictions and drawbacks of PGT in detail. Before the onset of PGT testing in an IVF cycle, it is necessary to comprehend these details. Risks are present in the freeze and thaw procedure and the PGT biopsy. Based on the PGT results, it is possible that all embryos are affected, and there are no embryos that may be appropriate for transfer. Other than being a costly procedure, PGT does not replace approved screening and testing alternatives during pregnancy, nor does it reveal all hereditary disorders.

In Summary

PGT genetic screening is an excellent method for detecting carriers of specific hereditary illnesses, which can help choose the most appropriate embryo for transfer to increase the chance of achieving a successful pregnancy. Making the best decisions possible during your reproductive journey might be aided by having a basic understanding of genetic testing and your available choices. The Australian Concept Infertility Medical Center provides free in-person or virtual consultations with an ART coordinator doctor who takes your medical history, orders the necessary lab work, and schedules an appointment with the relevant consultant. You can get assistance from the IVF professional throughout the PGT process. All the details you require to contact Australian Concept Infertility Medical Center doctors in different Pakistani cities are the following.

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