Challenging the “Abnormal” Label: The Research That Saved Healthy Embryos

In the world of IVF, technology often moves faster than our understanding of it. By 2015, Preimplantation Genetic Screening (PGS/PGT-A) had become the “Gold Standard.” The promise was simple: biopsy a few cells from an embryo, check the chromosomes, and discard anything that wasn’t perfect.

Thousands of embryos labeled “aneuploid” (abnormal) were discarded daily. Patients were told these embryos had zero chance of life. But Dr. Andrea Vidali and his collaborators suspected that the science was not as black-and-white as the labs claimed.

They asked a dangerous question: “What if we are throwing away healthy babies?”

The 2015 Breakthrough

In a collaboration that shook the reproductive world, Dr. Vidali worked alongside Dr. Norbert Gleicher (Center for Human Reproduction) and the late Dr. Jeffrey Braverman. Together, they decided to do the unthinkable: They obtained informed consent to transfer embryos that genetic testing had labeled as “aneuploid”—embryos that other clinics would have thrown in the trash.

The results, presented in Fertility and Sterility, were groundbreaking.

• The Outcome: Women achieved healthy pregnancies and delivered distinctively normal, healthy babies from “abnormal” embryos.

• The Revelation: The study proved that a single biopsy of 5 cells from the outer shell of an embryo (placenta) did not always represent the baby inside.

Understanding “Mosaicism”

This research shone a spotlight on the concept of Mosaicism. Dr. Vidali helped the world understand that embryos can contain a mix of normal and abnormal cells. An embryo might push the abnormal cells to the outer layer (trophectoderm) while keeping the inner cell mass (the fetus) perfect. Or, the embryo might “self-correct” as it grows.

By treating the test result as a final verdict, the fertility industry had been discarding viable life.

A Legacy of Pushing Frontiers

This paper did not just result in babies; it forced a global reevaluation of embryo testing. It led to the creation of the “Mosaic” category in PGT-A reports, saving countless embryos from the bin in the decade since.

This spirit of scientific courage defines Endometriosis Surgical Specialists International (ESSI) today. We do not just follow the guidelines. When the guidelines hurt our patients, we rewrite them.

The Original Research

Title: Further evidence against use of PGS in poor prognosis patients: report of normal births after transfer of embryos reported as aneuploid Authors: Gleicher N, Vidali A, Braverman J, Kushnir VA, Albertini DF, Barad DH. Journal: Fertility and Sterility, Volume 104, Issue 3, Supplement, e59, September 2015 Link: Read the Abstract on ResearchGate

Summary: This abstract presented the first clinical series of transfers of embryos deemed “aneuploid” by PGS in poor prognosis patients.

• Key Finding: The authors reported multiple ongoing pregnancies and live births from embryos that had been labeled chromosomal abnormalities.

• Conclusion: The study concluded beyond a reasonable doubt that at least some “aneuploid” embryos can lead to healthy euploid births, and that the routine discarding of these embryos significantly reduces pregnancy chances for IVF patients, particularly those with poor prognosis.