PREIMPLANTATION GENETIC TESTING (PGT): TECHNIQUES & ETHICS

 “𝕀𝕥’𝕤 𝕝𝕚𝕜𝕖 𝕀𝕍𝔽 𝕨𝕚𝕥𝕙 𝕚𝕟𝕥𝕖𝕝𝕝𝕚𝕘𝕖𝕟𝕔𝕖; 𝕪𝕠𝕦’𝕣𝕖 𝕒𝕕𝕕𝕚𝕟𝕘 𝕚𝕟𝕗𝕠𝕣𝕞𝕒𝕥𝕚𝕠𝕟 𝕥𝕠 𝕚𝕞𝕡𝕣𝕠𝕧𝕖 𝕠𝕦𝕥𝕔𝕠𝕞𝕖𝕤 𝕒𝕟𝕕 𝕣𝕖𝕕𝕦𝕔𝕖 𝕣𝕚𝕤𝕜.” — Dr. Mark Hughes

🧬 Preimplantation Genetic Testing (PGT) marks a critical advancement in reproductive medicine, allowing genetic evaluation of embryos before implantation during IVF. As our understanding of hereditary disorders deepens, PGT presents not only technical opportunities but also pressing ethical challenges.

          🔹 PGT includes three primary techniques:-

1. PGT-A (Aneuploidy):

Identifies embryos with abnormal chromosome numbers, common in older maternal age. Using techniques like Next-Generation Sequencing (NGS) or Comparative Genomic Hybridization (CGH), it helps select chromosomally normal (euploid) embryos; improving implantation rates and reducing miscarriage risk.

2. PGT-M (Monogenic Disorders):

Screens for single-gene mutations (e.g., cystic fibrosis, Tay-Sachs, sickle cell disease). Ideal for couples at risk of passing on hereditary diseases. DNA is extracted from a biopsied embryonic cell and analyzed via PCR or single-cell sequencing to ensure implantation of unaffected embryos.

3. PGT-SR (Structural Rearrangements):

Detects chromosomal translocations or inversions, typically in couples with recurrent miscarriage or infertility. Like PGT-A, it employs genome-mapping tools to ensure chromosomal integrity.

          🔹With PGT's capabilities come complex questions, concerns arise over selecting embryos for traits beyond health; like intelligence or appearance, risking socio-genetic inequality. The high cost of PGT may privilege wealthy populations, deepening healthcare disparities. Selecting embryos based on genetics raises debates on embryo commodification, eugenics, & the definition of life; issues steeped in cultural and personal belief. 

          🔹Couples face difficult decisions, especially when results reveal non-lethal or uncertain variants. The emotional weight of discarding or choosing embryos cannot be understated. False positives or negatives remain a risk. Misinterpretation or overconfidence in the test results can lead to distress or inappropriate clinical decisions.

⚠️ In an Oystershell, PGT is a powerful tool that enhances reproductive decision-making and IVF outcomes. Yet, its promise must be balanced with ethical vigilance. As genetic technologies advance, so must our collective dialogue, ensuring responsible application, transparent counseling, equitable access, and respect for diverse moral frameworks.

Abubakar Abubakar ✍🏻

• Fernando Zegers-Hochschild et al. Human Reproduction, Volume 32, Issue 9, September 2017, Pages 1786–1801.

• Dahdouh, Elias M. et al.

Fertility and Sterility, Volume 104, Issue 6, 1503 - 1512.

#Genetics #ReproductiveMedicine #PGT #IVF #Bioethics #PrecisionMedicine #HealthEquity #FutureOfFertility #Genomics #ART