Preimplantation Genetic Testing (PGT) Definition
As the field of reproductive medicine is rapidly evolving, the ability to diagnose genetic problems before your baby is born is a game-changer. This is possible because of innovative techniques like preimplantation genetic diagnosis and fetal testing. Preimplantation genetic testing or diagnosis (PGT) even helps you prevent genetic disorders during the IVF process.
But what exactly is preimplantation genetic screening definition? How does it work, and what does it entail? Knowing all this will prove to be very helpful for you. As a prospective parent, you must be confident and positive when opting for fertility treatments. PGT contributes to this.
To help you understand everything about preimplantation genetic diagnosis in India, we have covered all the details, such as the process, benefits, ethical perspective, and a lot more about PGT in the sections below.
What is Preimplantation Genetic Diagnosis or Testing?
Preimplantation Genetic Testing is a specialized testing method used with IVF (in vitro fertilization) to screen embryos for specific genetic disorders before they are implanted into the uterus. The primary goal of PGT is to identify embryos with potential disorders and ensure that only healthy ones are placed in the uterus of the mother (or surrogate). This proves to be a big relief for expectant parents because it significantly reduces the risk of genetic diseases being passed to their babies. Before PGT, Laser Assisted Hatching may also be recommended by your doctor.
How Does Preimplantation Genetic Diagnosis Work?
The process of preimplantation genetic testing (PGT) is done after the in-vitro embryo is formed. For the diagnosis, an embryo biopsy is conducted first. The expert will remove 1 to 2 cells or blastomeres from the preimplantation embryo. This is done on the third day after in vitro fertilization when it has reached the 6-10 cell stage.
In the next step, the biopsy is then sent to the laboratory for analysis, where the genetic testing of the DNA is performed. This helps to determine whether an embryo is safe to be transferred to the uterus and will not develop genetic conditions in the later stage.
Techniques Used for Genetic Assessment in Preimplantation Genetic Testing PGT
IVF preimplantation genetic diagnosis involves the assessment of the embryo using one of the following two techniques:
Polymerase Chain Reaction (PCR)
A process of amplification is carried out in PCR to produce multiple copies of the gene that needs to be assessed. This ensures that even the smallest amount of DNA is analyzed with the intent of diagnosis.
Fluorescent In Situ Hybridization (FISH)
In FISH, an isolated cell is observed to check the number of chromosomes present in it. FISH has been very effective in identifying the risk of genetic disorders such as Down syndrome, chromosome number anomalies, and translocations (chromosome structure abnormalities).
The Different Kinds of PGT
Depending on what the pre-implantation genetic testing aims to determine, it has been classified into three different types or categories. These are:
Preimplantation Genetic Testing for Aneuploidy (PGT-A)
PGT-A is performed to analyze whether or not there is an equal division of sperm or egg cells. When a person’s cell has a missing chromosome or an extra chromosome, it is called aneuploidy. Aneuploidy is further classified into monosomy (missing chromosome) and trisomy (extra chromosome).
Aneuploidy is one of the leading causes of failed implantation. Even if the implantation is successful, there is still a risk of miscarriage or birth defects.
The different disorders that can be diagnosed using PGT-A include the following:
- Turner syndrome or Trisomy 18
- Down syndrome or Trisomy 21
- Patau syndrome or Trisomy 13
Preimplantation Genetic Testing for a Monogenic Disease (PGT-M)
The role of PGT-M is to analyze the gene mutations carried by one or both of the parents. Your doctor will observe your family history carefully before suggesting this technique to you.
The common disorders that PGT-M diagnoses include:
- Fragile-X syndrome
- BRCA1 & BRCA2 mutations
- Sickle cell anemia
- Breast cancer
- Tay-Sachs disease
- Muscular dystrophy
- Huntington’s disease
- Cystic fibrosis
- Ovarian cancer
Preimplantation Genetic Testing for Chromosome Structural Rearrangement (PGT-SR)
As the name suggests, preimplantation genetic testing - SR is done to check for chromosomal structural rearrangement. This can either be inversion or translocation. If the chromosomal material is not present in the optimal amount, the chances of live birth are drastically reduced. Hence, PGT-SR is a very important technique.
It is used for the analysis of -
- Robertsonian translocations
- Reciprocal translocations
- Nonreciprocal translocations
Preimplantation Genetic Screening Pros and Cons
There are numerous benefits of preimplantation genetic diagnosis as well as disadvantages that you should be aware of before you proceed. These include:
Pros:
- Better embryo selection
- Prevention of genetic disorders
- Improved chances of a successful pregnancy
- Full term pregnancy
- Reduced uncertainties
- Determining the right fertility treatment option
Cons:
- Added costs
- Damages to the embryo
Preimplantation Genetic Diagnosis Cost: Primary Factors Affecting the Expenses
If you are wondering how much does preimplantation genetic diagnosis cost, the answer depends on a wide range of factors. These are:
- Number of IVF cycles needed
- Number of eggs to be tested
- Inheritance pattern
- Technology used
For an exact preimplantation genetic screening cost in India, it is recommended that you discuss your case with an experienced healthcare practitioner.
Preimplantation Genetic Diagnosis Ethical Issues
While this technique provides commendable benefits to patients, numerous preimplantation genetic diagnosis ethics come into the picture and need to be followed. In the near future, many parents will attempt to select embryos based on preferred traits with the help of PGT. This may eventually lead us to eugenics.
Addressing issues like selective breeding and many other ethical issues requires careful consideration and the development of guidelines that ensure that people get the best benefits from this technique while staying within the ethical limits.
Bloom IVF: Offering the Most Accurate Preimplantation Genetic Testing Across India
Bloom IVF stands tall as one of the most commendable and advanced centers in the field of reproductive medicine in today’s time, offering everything from Micro TESE to Ovarian Rejuvenation. We have the most talented team of doctors in our team, who are eager to serve the patients in the best manner possible. Our commitment to excellence is what sets us apart as the finest clinics. The best part about choosing Bloom IVF is that you get the most affordable preimplantation genetic diagnosis cost in India at our centers.
In addition to providing IVF preimplantation genetic diagnosis, we also specialize in providing numerous other fertility treatments, technical services, and clinical solutions. These include Sperm Retrieval, Semen Freezing, and GCSF.