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Preimplantation Genetic Testing (PGT) Guide



Preimplantation Genetic Testing (PGT): Screening Embryos for Healthier Outcomes

Advanced reproductive technologies allow us to evaluate the genetic and chromosomal health of an embryo before it implants in the uterine wall. This specialized microscopic analysis is termed Preimplantation Genetic Testing (PGT). According to Prof. (Dr.) Abha Majumdar, utilizing PGT helps eliminate chromosomal abnormalities, lowers early miscarriage frequencies, and prevents the transmission of severe hereditary diseases to the next generation.


The Molecular Distinction: Understanding PGT-A vs. PGT-M

Human embryos can sometimes carry subtle genetic variances despite presenting a perfectly normal appearance under standard laboratory microscopes. Therefore, we utilize Next-Generation Sequencing (NGS) to analyze cell compositions across two distinct clinical testing options:

  • PGT-A (Aneuploidy Screening): This process evaluates the total chromosome count inside the cells. It screens for structural deviations or missing/extra chromosomes, such as Trisomy 21 (Down syndrome). PGT-A is highly recommended for advanced maternal age patients (35+).
  • PGT-M (Monogenic/Single-Gene Testing): This ultra-precise diagnostic option looks for specific inherited genetic mutations. It helps couples who are known carriers of single-gene disorders, such as Thalassemia, Cystic Fibrosis, or Duchenne Muscular Dystrophy, avoid passing on these conditions.

Professor’s Medical Insight: Biopsying an embryo requires immense embryological skill. We perform this procedure exclusively at the Day 5 blastocyst stage by safely sampling cells from the trophectoderm layer. This layer forms the future placenta, leaving the inner cell mass that develops into the baby completely untouched.


The Genetic Testing and Selection Timeline

Integrating genetic analysis adds specific, highly structured laboratory phases to a standard IVF treatment cycle:

Timeline Stage Embryology Laboratory Action Clinical Safety Metric
Day 5 Blastocyst Embryos grow safely to the blastocyst stage until they develop distinct outer cell layer definitions. Ensures the embryo is strong enough to withstand a cell biopsy.
Laser Biopsy Using a high-precision medical laser, an embryologist safely removes 3 to 5 cells from the outer layer. Preserves the integrity of the core inner cell mass.
Vitrification & Run The blastocysts are safely frozen instantly via vitrification, while the harvested cell samples undergo advanced genetic sequencing. Identifies euploid (genetically normal) embryos with absolute accuracy.

Clear Clinical Benefits for Couples

By transferring only certified euploid embryos during a subsequent frozen cycle, we bypass age-related biological challenges. Consequently, this precise selection drastically compresses your total time-to-pregnancy timeline. It lowers early pregnancy failure risks and avoids the heavy emotional burden of recurrent miscarriages.

Ultimately, preimplantation diagnostics offer deep reassurance to couples carrying known genetic risks. Combining world-class molecular sequencing with protective laboratory environments ensures a safe, reliable, and deeply comforting path toward building a healthy family.


Scientific Framework & References

  • Rubio C, Bellver J, Rodrigo L, et al. In vitro fertilization outcomes in women generalized for preimplantation genetic testing for aneuploidies. Fertility and Sterility 2017;107(5):1122-1129.
  • Sermon K, Capalbo A, Cohen J, et al. The future of preimplantation genetic testing: a committee opinion. Human Reproduction Update 2020;26(5):713-727.

Medically Reviewed & Approved By: Prof. (Dr.) Abha Majumdar, Director & Head of the Centre of IVF, Sir Ganga Ram Hospital, New Delhi. Leading Pioneer in Next-Generation Sequencing Application, Advanced Blastocyst Biopsy Protocols, and Hereditary Genetic Disease Prevention.

 

 

 



Sir Ganga Ram Hospital

Rajendra Nagar
New Delhi, India-110060.

Email: ivfsgrh@gmail.com

Genesis Clinic

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Landmark: Shankar Road Main Market, New Delhi -110060
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