Onco-genomics

Reproductive Genetics Clinician Guide

Clinical guidance for PGT-A, PGT-M, PGT-SR, carrier risk and prenatal follow-up.
Category: Reproductive Genetics Resources · Document ID: OGI-PHY-006 · Version 1.0 · Reviewed August 2026

Prenatal follow-up

PGT does not replace prenatal screening or diagnostic options. Patients should receive counselling about residual risk and confirmatory testing where appropriate.

Preimplantation genetic testing

PGT-A

PGT-A assesses chromosome copy number in embryo biopsy material. Routine benefit for every IVF patient has not been established; use should be individualized.

PGT-M

PGT-M is designed for a known familial monogenic condition and usually requires case-specific test development, molecular confirmation and genetic counselling before the IVF cycle.

PGT-SR

PGT-SR is used when a parent carries a structural chromosome rearrangement associated with risk of unbalanced embryos.

Mosaic results

Mosaic embryo results require careful interpretation because a trophectoderm biopsy samples a small portion of the embryo and laboratory thresholds vary.

Clinical use note: This resource supports professional decision making but does not replace current specialty guidelines, multidisciplinary review, the validated scope of the exact laboratory assay, or patient-specific clinical judgement.

Planning PGT for a patient?

Our reproductive genetics team can support test selection, PGT-M work-up and counselling.

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