Amfira preimplantation genetic testing (PGT)

Amfira PGT may be appropriate for:

• Individuals or couples undergoing IVF treatment
• Individuals with previous unsuccessful IVF
• Women with one or more miscarriages
• Carriers of balanced chromosomal rearrangements
• Women with a previous pregnancy affected by aneuploidy
• Women aged 35 years or older undergoing IVF

Clinical suitability should be assessed by the treating fertility specialist.

• Provides chromosomal information to support embryo prioritisation
• Complements morphological assessment with genomic screening data
• Assists management of carriers of structural rearrangements by identifying balanced, euploid or unbalanced embryos
• Supports structured decision-making during IVF cycles.

Euploid

Embryos with the expected chromosome complement.

Aneuploid

Embryos with missing or additional chromosomes or segmental copy-number changes. These typically arise from meiotic or early mitotic errors and are usually not inherited.

Mosaic

• Embryos containing both euploid and aneuploid cell populations. Interpretation depends on the chromosomes affected and the proportion of mosaic cells.
• Balanced or euploid (PGT-SR cases).
• Embryos with the expected chromosome complement, or a balanced form of a parental rearrangement. Balanced carriers generally have no clinical symptoms but may produce unbalanced gametes.

Test limitations

• Structural or segmental abnormalities <10 Mb may not be detected
• Detection of cryptic or complex rearrangements may be limited
• Mosaicism thresholds vary by laboratory validation

• Suitability assessment by the fertility specialist
• Embryo biopsy performed at the IVF clinic
• NGS-based chromosomal analysis performed on biopsied material
• Structured report issued within 5–7 working days
• Results reviewed with the fertility specialist and a genetic counsellor

Genetic counselling is a specialised, patient-centred, impartial, and non-directive communication process that supports patients and their families both before and after genetic testing.

Prior to genetic testing, genetic counsellors obtain a detailed medical and family history and provide education on genetic concepts, the testing process, and available options, along with the potential risks, benefits, limitations, and possible outcomes.

Upon receiving genetic test results, genetic counsellors assist in interpreting the findings and guide individuals through the implications for their own personal health and that of their family members. During post-test counselling, genetic counsellors also provide evidence-based recommendations on next steps, including strategies for prevention, surveillance, and management.

The goal of genetic counselling is to empower patients through knowledge and tailored support, enabling them to make informed and voluntary decisions.

• Embryo biopsy from blastomere or trophectoderm
• DNA preparation using target-capture methodology
• NGS for chromosomal copy number analysis
• Reporting restricted to abnormalities within validated detection ranges

(Sequencing depth, bioinformatic workflow and mosaic thresholds will follow laboratory validation)

• Performance varies by chromosome region and copy-number change
• All reported findings meet internal validation thresholds
• Detailed performance metrics will be available following quality review