Anil Gudi: Whole-Chromosome vs. Segmental Aneuploidy
Anil Gudi, Medical Consultant at Fertility Plus, shared on LinedIn:
”Whole-Chromosome vs Segmental Aneuploidy: A Simple Guide to Counselling Patients on PGT-A Results.
Not every ‘abnormal’ PGT-A result means the same thing, and how we explain it to patients matters enormously.
For a long time, embryos with an unexpected genetic result were often grouped together and set aside. The evidence now tells a more nuanced story, so we’ve put together an internal guide to help our team counsel with clarity and confidence.
Written by Mr Anil Gudi and Mr Amit Shah for internal distribution within Fertility Plus, it simplifies two key 2026 papers in Fertility and Sterility, alongside supporting peer-reviewed studies, ESHRE guidance and HFEA information.
Here is the heart of it, in plain English.
A whole-chromosome result means an entire chromosome is missing or doubled in the embryo’s cells. In the largest multicentre study to date, these embryos did not result in a live birth, including in blinded transfers where the result was unknown at the time. That is why we counsel against transferring them.
A segmental result means only part of a chromosome is affected, and often only in some of the cells. These embryos behave very differently. Around 1 in 6 transfers led to a baby in the main study, with other studies reporting similar or slightly higher rates, and the babies tested were chromosomally normal.
A second study looking inside segmental embryos found that most are a patchwork of normal and abnormal cells, which helps explain why some can go on to develop healthily while others cannot.
So a segmental-only embryo can be a reasonable option when no other embryo is available, after proper genetic counselling and with prenatal testing offered. As with all evidence in this area, the numbers are still modest, and we’re clear with patients about that.
Our aim is simple: help every patient understand exactly what their result means, without fear and without false promises.
Fertility Plus is a private IVF clinic at 92 Harley Street, London.”
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