OVERVIEW

WHAT IS AMFIRA?

Amfira is a preimplantation genetic test (PGT) that can help you increase your chances of becoming pregnant.
Amfira PGT can be used during in Vitro Fertilization (IVF) cycles to test embryos and detect which ones are chromosomally normal (euploid). Chromosomal assessment of embryos, in addition to morphological grading, can result in improved assessment of embryo status, higher implantation potential and the best chance to result in a successful pregnancy and delivery. Additionally, implantation of euploid embryos can potentially reduce the number of IVF cycles and time needed to achieve pregnancy.

Contrary to previous technologies, the recent introduction of Next Generation Sequencing (NGS) for PGT has shown improved efficiency and precision.

WHY GET TESTED?

Amfira PGT can identify euploid embryos, which can:
Increase the chances of successful implantation
Increase the chances of livebirth
Lower miscarriage rate
Lead to safer pregnancies, with fewer maternal and perinatal complications by promoting single embryo transfers (SETs)
Achieve a pregnancy earlier compared to cycles without PGT

WHO COULD BENEFIT FROM AMFIRA?

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Any individual or
couple going through IVF

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Any individual or
couple with a history of
unsuccessful fertility treatments

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Women who have
experienced at least
one miscarriage

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Individuals with structural
chromosomal rearrangements
(translocations)

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Women who have
experienced a previous pregnancy
with a chromosomal aneuploidy

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Women over 35 years old
going through IVF

WHAT DOES AMFIRA TEST FOR?

Amfira offers 2 PGT panels:

PGT for Aneuploidies (PGT-A)
For all individuals or couples going through IVF
PGT-A examines the chromosomes of embryos to detect the ones that are euploid and have the best prospect to achieve pregnancy. PGT-A tests for whole, partial and mosaic changes in all 23 chromosomal pairs, and can detect selected male polyploidies and segmental changes over 10Mb.

PGT for Structural Rearrangements (PGT-SR)
For diagnosed carriers of balanced rearrangements (translocations), where a person has the correct number of chromosomes but not in the correct location.
A person with a balanced translocation may have:
Difficulty conceiving
Recurrent pregnancy loss
A child without the translocation, or with a balanced form of the translocation (phenotypically healthy)
A child with an unbalanced form of the translocation that will have extra or missing chromosomal material, which may cause physical or intellectual impairements.
PGT-SR can help identify embryos that are euploid or balanced for the translocation, optimizing your chances for a successful pregnancy and livebirth. Amfira PST-SR includes PGT-A analysis, testing for whole, partial and mosaic changes on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

HOW CAN PGT IMPROVE PREGNANCY RATES?

Chromosomal aneuploidies (changes) in embryos negatively impact implantation, and subsequently pregnancy and livebirth rates. They are the primary cause of miscarriage in women, accounting for up to 70% of pregnancy losses*. Whole chromosome aneuploidies occur more frequently with increasing maternal age. Women over 35 years old generally have more difficulty conceiving, a higher risk of miscarriage and of having a baby with a chromosomal aneuploidy. However, other types of aneuploidies, like segmental changes and mosaicism (mix of normal and abnormal cells) can occur in women of all ages.

PGT cannot correct embryos with chromosomal aneuploidy. However, knowing which embryos are chromosomally normal enables the healthcare providers to implant those embryos over chromosomally abnormal embryos, optimizing your chances of pregnancy and livebirth.

*Silver R.M. and Branch D. (2007)

IS PGT THE BEST CHOICE FOR YOU?

In the last two decades, PGT has become a routine part of IVF cycles. PGT requires embryo biopsy to be performed during IVF; which is a procedure many experienced embryologists are trained to perform. During the procedure, a few cells from the developing embryo are removed and sent to our laboratory for testing, while the embryos remain at the fertility clinic.

Overall, treatment success, both in terms of higher live birth rates and lower miscarriage rates, is improved when PGT is used as part of the IVF cycle. Obstetric, neonatal and early childhood outcome data in children conceived through IVF and PGT are reassuring. With the continuing advancements of technology, the latest techniques both in embryo biopsy and preimplantation genetic testing, provide highest levels of safety, efficiency and accuracy than even before.

POSSIBLE OUTCOMES OF THE TEST

The Amfira report will let you know whether your embryos are:

Euploid
An embryo which is chromosomally normal, having in total 46 chromosomes. Euploid embryos have the best chance for implantation, pregnancy and livebirth.

Aneuploid
An embryo with additional or fewer chromosomes than 46.
Whole chromosome aneuploidy: An entire chromosome is either missing
(monosomy – 1 copy) or is extra (trisomy – 3 copies)
Segmental aneuploidy: Part of a chromosome is missing (deletion)
or is extra (duplication)
The development of the embryo, its survival, implantation potential, miscarriage risk and the health of the baby depend on whether the aneuploidy is whole or segmental, and on the affected chromosome.

Mosaic
An embryo which has 46 chromosomes in some of its cells, and more or fewer chromosomes in other cells. Mosaicism is a biological phenomenon. Mosaic embryos may still result in viable pregnancies. The development of the embryo and the health of the baby depend on the chromosome affected by mosaicism, and on the biopsied cells.

HOW CAN I TAKE THE AMFIRA PGT TEST?
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Ask your fertility team about Amfira

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Your embryology team will perform embryo biopsy during your IVF

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The biopsied samples will be sent to our laboratory

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The samples will be analyzed in our laboratory

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Results will be sent to your fertility team within 5-7 working days from sample receipt

ACCEPTED MATERIAL

Frozen sample biopsied from blastomere or blastocyst embryos. To be stored and shipped according to instructions provided in the Amfira PGT kit.

TURNAROUND TIME

5-7 working days from sample receipt in our laboratory

TECHNOLOGY

Samples are analyzed using an innovative target capture methodology followed by next generation sequencing. The test is intended for screening genome-wide aneuploidies, copy number changes, triploidy status (male polyploidy) and mosaic events at chromosomal level (>50% mosaicism) of biopsied samples.

• Segmental changes and structural aneuploidies over 10Mb resolution are reported
• Detection of selected male polyploidies (69XXY, 69XYY, 92XXXY)

Test Methodology
SEQUENCING

Next generation sequencing (Illumina)

ENRICHMENT

Proprietary Target Capture Enrichment Technology (Click here to see our Publications)

REFERENCE GENOME

hg19, NCBI GRCh37

SENSITIVITY

Whole chromosome aneuploidy: 100% (95% CI: 95-100%)
Segmental aneuploidy: 100% (95% CI: 63-100%)
Whole chromosome mosaicism >50% : 91.7% (95% CI: 62-99.8%)
Selected male polyploidies: 100% (95% CI: 50-100%)

SPECIFICITY

100% (95% CI: 96-100%)

OUR TESTS

Genes: Amfira PGT-A panel tests for whole, partial or mosaic chromosomal aneuploidies on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

Genes: Amfira PST-SR includes PGT-A analysis, testing for whole, partial and mosaic changes on all 23 chromosomal pairs. Selected male polyploidies are reported, along with segmental or structural aneuploidies over 10Mb.

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