Role of Preimplantation Genetic testing in the IVF Journey and family planning

You have finally made the significant decision of your life! You are going to opt for In-Vitro fertilization to build your family! While you have figured it all out – from medication to multiple injections, have you ever considered genetic testing as a part of the treatment?

If you or your family member has a serious genetic condition, you might be worried whether your children can inherit the condition. In such a scenario, you should get your embryo tested or screened regarding the IVF journey and family planning. In this way, you can be assured that you are carrying healthy embryos in your womb, enhancing your chances of delivering a healthy little one.

Are you concerned about conceiving a healthy child or struggling with challenges for family planning? Then, it might be the ideal time to opt for preimplantation genetic testing. How would it help in having a healthy baby? Let’s dive deep into the world of genetics to discover more!

What is Preimplantation Genetic Testing?

Humans typically have 23 pairs of chromosomes, which is 46 in total. An individual's excess or absence of certain chromosomes might cause genetic disorders like Down syndrome. Here’s how preimplantation genetic testing for the IVF journey comes into the picture.

Preimplantation genetic testing is the diagnostic procedure of removing a sample of cells from an embryo, which is created using IVF or ICSI. The procedure (PGD) tests for specific genetic conditions, including Duchenne Muscular dystrophy and cystic fibrosis, before transferring the embryo to the woman's uterus.

Simply put, it is a screening process that helps healthcare experts test the number of chromosome copies in an embryo. Generally, preimplantation genetic testing is performed before the embryo transformation during the IVF treatment.

What are the Different Variations of Preimplantation Genetic Testing?

Three primary variations of preimplantation genetic testing are available for IVF journey and family planning.

PGT for aneuploidy (PFT-A) – This diagnostic examination involves the screening of missing or the presence of extra chromosomes.
PGD for monogenic disorders (PGT-M) – PGT–M is performed to predict the specific gene mutations that induce the inheritance of certain genetic disorders in embryos.
PGT for structural arrangements (PGT-SR) – This screening is performed when you or your partner is diagnosed with the rearranged presence of their chromosome. For instance, it could be inversion or translocation, leading to developing embryos with chromosomal abnormality.

How is Preimplantation genetic testing performed?

Preimplantation genetic testing is a beacon of hope among couples struggling with genetic disorders. It is a meticulous process involving the examination of embryos at the cellular level. It involves.

Embryo biopsy – Embryos developed with IVF treatment are cultured and processed to develop for a few days. A skilled embryologist will delicately separate a few cells from the embryos as a sample for further analysis.
Genetic analysis – The separated tiny cellshave the blueprint of life, DNA. The cutting-edge technology will scrutinize the DNA at the micro-level to detect any genital abnormalities and mutations that might result in inherited diseases in children.
Selection of healthy embryos – Once the analysis is complete, the experts will choose the healthiest embryos, free of any genetic disorders, to transform into a woman's uterus.

Causes/ Reasons to Choose Preimplantation Genetic Testing

Preimplantation genetic testing is often preferred by people who have witnessed severe inherited diseases in their family chain and want to avoid passing the condition to their children. Here’s why people opt for preimplantation genetic testing before the IVF journey:

To evaluate the embryos before transferring them to the uterus. The process is targeted to single gene orders.
To detect any structural abnormalities in the chromosome, including translations and confirmation of rearrangement results.
To screen the embryos for whole chromosomal abnormalities.

Risk Factors/ Challenges of Preimplantation Genetic Testing

Before opting for preimplantation genetics testing, it is important to know that while the screening benefits some parents, it might pose certain risks for some couples. Let’s explore the challenges of preimplantation genetic testing.

Not possible to detect specific conditions – Suppose couples have genetic diseases, and they prefer to use their sperm and eggs to develop an embryo. In such circumstances, incorporating preimplantation genetic testing will not be efficient in determining the specific genetic conditions present in the chromosomes of an embryo.
Invasiveness of the procedure – During preimplantation genetic testing, there are little to zero chances of damaging the embryo during biopsy and freezing. Nonetheless, the damage to embryos during genetic testing has been significantly reduced due to the advancements in medical technology.

When to see a doctor/ Indications for Preimplantation Genetic Testing

Preimplantation genetic testing is a valuable resource in IVF and fertility, helping the patient to improve the success rate of pregnancy and reduce the risk of genetically inherited disorders. As with any medical decision, it is essential to consult your healthcare professional to determine if genetic testing is the right choice for your pregnancy.

Here’s when you should visit your doctor to decide on PGT:

If you or your partner has a familial history of genetic disorders within your family, then it is important to visit a doctor before you conceive a child.

If you or your partner is diagnosed with a genetic mutation, it can be passed on to the next generation.
If you have had over three documented history of failed IVF cycles
If you are over 35 years and older
If you have a medical history, recurrent miscarriages, or pregnancy losses.
If you have had a previous pregnancy journey with a chromosomal abnormality.

Wrapping Up!

Getting pregnant, especially as an older adult, doesn’t tag alone without risks. However, fertility treatments have come a long way, and IVF and genetic testing will make your pregnancy safer and healthier.

Navigating such important genetic testing might be overwhelming. In such cases, you can consult with your healthcare professional to determine what you need and the most appropriate test. Whatever you decide, at Apollo Diagnostic Center, we carry out essential diagnostic procedures to provide actionable information, ultimately simplifying your journey to a healthy pregnancy.

Frequently Asked Questions (FAQs)

Q1. Does pre-implantation genetic testing improve the success rate of IVF treatment?

Yes, advanced preimplantation genetic testing plays a vital role in improving the success rate of IVF treatment. The process helps IVF experts to choose embryos with healthy chromosome numbers, reducing the risk of miscarriages or other complications.

Q2. What are the risks involved in preimplantation genetic testing during IVF?

The risk factors of preimplantation genetic testing in IVF are relatively less due to the advancements in reproductive technology. However, during the biopsy procedure for sample collection, there is a minor chance of causing damage to the embryo.

Q3. What is the role of preimplantation genetic testing in IVF or family planning?

Preimplantation genetic testing is not a mandatory step for IVF treatment. However, it is recommended by experts to gain intricate information about the health of the embryos involving the chromosomal analysis for healthy pregnancy.