Preimplantation Genetic Testing (PGT) is a new addition in the armamentarium of IVF Experts. In a time when IVF is becoming more prevalent, PGT is a groundbreaking advance in protecting generational health. Presented in 1990 as a preventive measure over prenatal testing, PGT allows embryonic screening for chromosomal and genetic defects prior to implantation. To families with hereditary disease or recurrent pregnancy loss histories, PGT is far from luxury; for many, it is a vital lifeline.
Genetic shielding
The most important use of PGT is in preventing the passing on of severe monogenic disorders — single-gene conditions — to children. Referred to as PGT-M, this technique tests embryos for certain inherited diseases like Marfan syndrome, neurofibromatosis type 1, cystic fibrosis, or sickle cell anemia. In X-linked diseases such as Fragile X syndrome, in which the woman unknowingly carries a gene mutation that can have a severe impact on male offspring, PGT-M prevents couples from playing a genetic lottery. This type of screening is not only improving reproductive agency; it eliminates intergenerational trauma. For families living with chronic illness, the psychic, emotional, and economic cost is unquantifiable. PGT-M offers an ethically acceptable way to decrease disease burden without subjecting oneself to the pain of termination after conception — a decision many couples once had to live with. Transferring genetic diagnosis to preimplantation, PGT honors life without diminishing its quality.
Embryo viability
Dr Sheetal Jindal, Senior consultant and medical director, director Medical Genetics program, at Jindal Ivf Chandigarh shares, “Although conventional IVF is largely based on visual grading of embryos, appearances may be misleading. Embryos can appear healthy under the microscope but contain chromosomal defects that go unseen by the naked eye. This is where PGT-A (aneuploidy screening) comes into play. Aneuploid embryos — extra or missing chromosomes — are a major reason for failed implantation, miscarriage, or conditions such as Down syndrome. PGT-A maximizes embryo choice by detecting those with best chromosomal health, raising the possibility of a successful pregnancy and healthy delivery. Especially in recurrent miscarriage, unexplained IVF failure, or advanced age, PGT-A brings certainty in uncertainty.”
Though not a certainty, it considerably improves the chances. Likewise, PGT-SR aids couples with one partner having structural rearrangements in chromosomes, for instance, translocations or inversions, eliminating the risk of passing on embryos with duplications or deletions leading to miscarriage or major congenital abnormalities.
Ethical empowerment
The future of family planning is knowledge, not assumption. PGT equips couples data-driven advice that enables reproductive decisions consistent with medical reality rather than social imperatives. Moving beyond reductive narratives of gender preference, the real strength of PGT is its versatility. It provides HLA matching for families who require a genetic match for a sick sibling, minimizes recurrent emotional and physical burden of IVF failure, and provides reassurance where previously only uncertainty prevailed. To achieve its full potential, however, systemic reform is required:
- – Greater accessibility of PGT for high-risk groups through insurance coverage and policy changes.
- – Improved genetic counseling to guarantee patients comprehend implications, benefits, and
- limitations.
- – Strong ethical regulation to guard against abuse without impeding patient autonomy.
- – Ongoing research and development to increase more accuracy and affordability.
- – Public education to dispel myths and foster informed discourse beyond sensationalism.
