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PGD/PGS/PGT-A

PGD/PGS/PGT-A: A boon for couples with genetic issues

Many patients face the issue of genetic conditions while undergoing IVF. For this, we utilize pre-implantation genetic testing (PGT).


Generally, PGT is comprised of two procedures:

The procedures are separate and different and are used interchangeably.

What is PGD/PGS/PGT-A?

Preimplantation genetic testing is a procedure for identifying a congenital defect or condition in an embryo much before it is implanted in the womb during embryo transfer. This helps in separating the defective embryos from the normal ones. It also helps to detect genetic problems or an abnormal number of chromosomes in an embryo. Getting back a PGT selected healthy embryo enhances the chances of having a healthy baby. PGD is appreciable when dealing with couples who have a family history of severe or deadly disease, and stop the defect from passing on to their offsprings. It is generally seen in cases of single-gene disorders.

The primary task of PGS is to check whether the cells in an embryo have the normal number of chromosomes or not. Strictly speaking, PGS allows for an embryo with a normal chromosome to be transferred into the uterus. The risk of aneuploid embryos increases with the increase in the age of the woman, and an abnormal embryo is very likely to result in a failed pregnancy. PGS also helps to alleviate severe male factor infertility and allows couples with a previous history of recurrent miscarriages.

Another important fact is that PGT cannot be used for sex selection.

PGD comes as a boon for couples that are faced with the risk of genetic diseases in their offspring. A critical analysis of the case is needed before going ahead with PGS. If you feel like you are the right candidate for PGD/PGS/PGT-A, meet an expert to figure out and understand the procedure before going ahead with it.

Uses of PGD/PGS/PGT-A

PGT comes up as a handy tool when the case of infertility is found in any of the partners. The mission of PGT is to monitor and select the chromosomally normal embryos in the laboratories, so that they can be implanted into the uterus of the female partner, eventually increasing the chance of pregnancy. Many factors play a significant role in the pregnancy of a woman. The quality of the eggs is a significant consideration in the same, alongside age, and other factors. Even in case of a failed pregnancy, there is a 60-70% chance if you make use of PGT.

Other Uses of PGD/PGS/PGT-A

We can safely conclude that PGT is one of the essential diagnostic tools that can be used to prevent the transmission of known genetic disorders. It can also help in populations that are at a comparatively higher risk of having babies with specific congenital abnormalities.

PGT also helps to reduce the trauma of early miscarriages, multiple failed IVF cycles and helps in cases of pregnancy during advanced maternal age. PGT-M helps protects the unborn child from various inherited monogenic disorders. Using the concept of savior sibling, PGT-M can even help to cure some hematological disorders in the affected child.
In short, PGT technology can and should be integrated into ART to offer the best possible results for the patients. This technology should be used judiciously and ethically, and its limitations should be understood.

The Benefits of PGT-A (formerly PGS)

 PGT-A benefits include:

  1. Increased conception rates: PGT-A aids in the identification of embryos with the appropriate number of chromosomes, which are more likely to implant in the uterus.
  2. Reduced miscarriage rates: PGT-A can detect embryos that are more prone to miscarry.
  3. Reduced risk of multiple pregnancy: PGT-A can help minimize the risk of twin pregnancy.
  4. Reduced risk of genetic conditions: PGT-A can assist in identifying embryos that may result in an infant with genetic issues.

Time and expense saving: PGT-A can help achieve a successful pregnancy in a single round, saving time and money over multiple IVF cycles.

PGT-A and PGT-M: What is the Difference?

Preimplantation genetic testing for aneuploidy (PGT-A) determines the embryo’s chromosomes, whereas PGT-M detects the presence of a disease-causing gene.

PGT-A screens embryos for the existence and correct number of each chromosome. Human chromosomes are numbered according to size, with chromosome 1 being the largest, and embryonic cells should contain a total of 46 chromosomes: two of each chromosome from 1 to 22, plus two X chromosomes for females or one X and one Y chromosome for men. Any variation of this, whether an additional chromosome(s) or a missing chromosome(s), is an anomaly that can impair the embryo’s capacity to live, grow, and/or implant after transfer. 

In rare situations, the presence or lack of an additional chromosome might be compatible with pregnancy and birth while resulting in an impaired child. Down Syndrome is caused by the presence of an extra chromosome 21, while Turner’s Syndrome is caused by the lack of one of the X chromosomes in females.

Preimplantation Genetic Testing Procеss

Steps for PGT 

  1. Consultation: A fertility expert explains the procedure to the patient.
  2. Ovarian Stimulation: The patient produces numerous eggs via ovarian stimulation.
  3. Fertilization: The eggs are fertilized with sperm in order to generate embryos.
  4. Embryo culture: Embryos are cultivated in a lab until they reach the blastocyst stage.
  5. Biopsy: Only a handful of cells are taken from the embryo.
  6. Genetic analysis: The cells are examined for genetic abnormalities.
  7. Embryo selection: Embryos that are normal or free of genetic defects are chosen for transfer into the uterus.

Fast Facts:

Advantages of PGD-PGS-PGT-A are

To reduce genetic
disorder risk

To check for monogenic hereditary diseases

With personalized test
design & preparation

FAQs on Preimplantation Genetic Testing

What is PGT testing, and what does it detect in IVF embryos?

PGT, which refers to Preimplantation Genetic Testing. It is a procedure utilized in IVF in which a small number of cells are separated from an embryo to examine its genetic makeup, enabling doctors to identify potential chromosomal abnormalities or particular genetic disorders before transferring the embryo to the uterus, thereby improving the chances of a successful pregnancy with a healthy baby.

How much does PGT testing typically cost?

In India, PGT (Preimplantation Genetic Testing) costs between ₹25,000 and ₹50,000 each test, with prices varying depending on the type of test, center, and location of the clinic.

Who are Good Candidates For PGT?

Preimplantation genetic testing (PGT) may be advised for individuals with a history of genetic abnormalities, miscarriages, or infertility. A  PGT-A is especially helpful for patients over 35, as the risk of aneuploidy rises with maternal age. 

How long does it take to get results from PGT testing?

Preimplantation genetic testing (PGT) findings are often available within 1-2 weeks. However, the time it takes to receive results varies based on the type of test and the individual’s health.

What genetic conditions does PGT test for in embryos?

Preimplantation genetic testing (PGT) can detect a wide range of genetic disorders in embryos, including chromosome abnormalities, single-gene disorders, and hereditary cancer syndromes. 

Preimplantation Genetic Testing (PGT) is advised during IVF treatment as it lets doctors to evaluate the genetic makeup of your embryos before the transfer, identifying and choosing those with the correct number of chromosomes, thus significantly lowering the risk of miscarriage, implantation failure, and genetic disorders in the baby. 

I have polycystic kidney disease. Is PGT testing available for me?

Preimplantation genetic testing (PGT) is available to some individuals with autosomal dominant polycystic kidney disease (ADPKD). PGT can help minimize the chance of transmitting ADPKD along to the children. 

How should I prepare for my PGT appointment with a genetic counselor?

While preparing for your PGT appointment, collect your family’s health history, as well as your medical records and, if feasible, the medical records of any family members who have a hereditary illness to show to your doctor. Gather the findings of any genetic tests you or your family members have undergone as well and create a list of your questions and concerns prior to the meeting.

What happens to my embryos after PGT testing?

After PGT testing, embryos that are considered genetically normal based on the test results are often frozen and kept for future use, but embryos with faulty genetic traits are usually discarded; however, you may discuss with your clinic the possibility of donating them for research.

Doctor Speaks

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