A Note on PGT-A Genetic Screening: When Does It Help, When Is It Marketed?
Key Takeaways
PGT-A is not a magic filter for every couple. In young patients with good ovarian reserve, routine PGT-A does not increase live birth rates and may result in discarding viable embryos.
Key evidence: STAR Trial — Munné et al. Fert Steril 2019 (PMID 31551155) Cochrane Systematic Review — PGT-A for IVF (2020) ASRM Practice Committee Opinion on PGT-A (2024)
In over 30 years of clinical practice in reproductive medicine, I have witnessed multiple technological innovations presented as “universal filters.” While advanced technologies offer remarkable possibilities, marketing narratives often confuse a diagnostic tool with a guaranteed outcome.
First the Patient — Then the Glossy Brochures
Recently, a couple sat in my consultation room holding a glossy brochure from another clinic. They asked with genuine hope: “Doctor, should we perform genetic testing on all our embryos? The brochure says it guarantees selecting the healthiest baby and eliminates risk.”
The woman was 32 years old, with excellent ovarian reserve and normal sperm parameters. It was their first IVF attempt. The brochure promised absolute certainty. Yet in biology and good medical practice, absolute certainty does not exist.
I explained to them: “In your specific case, routine PGT-A will not increase your cumulative live birth rate. In fact, it carries the risk of discarding viable embryos labeled as ‘suspicious’ or ‘mosaic’.”
This article is a summary of the medical philosophy I share with my patients during those crucial clinical moments.
The Desire for Perfection vs. Clinical Evidence
Modern society naturally seeks control, efficiency, and perfection. In reproductive medicine, this manifests as a desire to use technology as an absolute screening tool to guarantee a flawless outcome.
However, three decades in fertility care have taught me a fundamental lesson: Hypothesis is one thing; clinical evidence is another.
What Does the Scientific Evidence Show?
- STAR Trial (Munné et al., 2019): In a large multicenter randomized clinical trial involving young, good-prognosis IVF patients, routine PGT-A showed no significant difference in ongoing pregnancy rates compared to standard morphological embryo selection (41.8% vs. 43.5%).
- Cochrane Systematic Review (Cornelisse et al., 2020): Synthesizing data from 13 randomized trials and nearly 2,800 women, Cochrane concluded that evidence is insufficient to show that PGT-A improves cumulative live birth rates.
- ASRM Practice Committee Opinion (ASRM, 2024): The American Society for Reproductive Medicine explicitly does not recommend universal routine PGT-A for all IVF patients.
Trophectoderm Biopsies and the Mosaic Embryo Reality
PGT-A analyzes a few cells taken from the outer trophectoderm layer of a blastocyst (which forms the placenta), not the inner cell mass (which forms the baby).
The embryo is a dynamic, self-correcting organism.
- Mosaic Embryos: Even if some cells in the outer layer show chromosomal variation, the inner cells can be entirely normal.
- Greco et al. (NEJM, 2015): Clinical transfers of embryos reported as “mosaic” or abnormal have resulted in completely healthy, normal live births.
If routine PGT-A had been applied indiscriminately to every single patient, many healthy children alive today would never have been born.
When Is PGT-A Truly Beneficial?
I am not opposed to PGT-A; I am opposed to marketing it as a routine add-on for everyone. PGT-A is an invaluable diagnostic tool for specific clinical indications:
- Advanced Maternal Age (38–40+ years): Where aneuploidy rates are significantly elevated.
- Recurrent Pregnancy Loss: To identify chromosomal causes of repeated miscarriages.
- Known Parental Translocations (PGT-SR / PGT-M): Targeted screening for known genetic conditions.
For a 32-year-old woman in her first IVF cycle, routine PGT-A narrows the embryo pool, adds significant financial cost, and introduces unnecessary anxiety.
Conclusion
Medicine should provide honest clarity, not commercial illusions. PGT-A is a vital diagnostic tool for the right patient; for the wrong patient, it is an expensive source of distress.
In my practice, I evaluate every case based on individual biology, medical history, and clinical evidence — not marketing brochures.
Sources
- Munné S, Kaplan B, Frattarelli JL, et al. Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial (STAR). Fertility and Sterility. 2019;112(6):1071-1079.
- Cornelisse S, Zagers M, Kostova E, et al. Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database of Systematic Reviews. 2020;9(9):CD005291.
- ASRM Practice Committee. The use of preimplantation genetic testing for aneuploidy: a committee opinion. Fertility and Sterility. 2024.
- Greco E, Minasi MG, Fiorentino F. Healthy babies after intrauterine transfer of mosaic aneuploid blastocysts. New England Journal of Medicine. 2015;373(21):2089-2090.
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The content has been created by Dr. Senai Aksoy and medically approved.