A next-generation embryo testing solution designed to enhance confidence in embryo selection and improve IVF outcomes.
Patients undergoing Assisted Reproductive Technology (ART) often present with a reproductive history characterized by repeated unsuccessful outcomes. These may include failure to achieve pregnancy, commonly associated with recurrent implantation failure after embryo transfer, as well as pregnancies that begin but end in miscarriage or, in some cases, are terminated following the prenatal diagnosis of a fetal chromosomal abnormality.
In a significant proportion of these cases, the reduced likelihood of achieving or carrying a pregnancy to term is associated with the presence of numerical chromosomal abnormalities in the embryos, known as aneuploidies.
Within this context, Preimplantation Genetic Testing for Aneuploidy (PGT-A) represents an advanced diagnostic approach aimed at identifying chromosomal abnormalities in embryos prior to uterine transfer, with the goal of improving the success rates of assisted reproduction treatments, particularly in patients with reduced reproductive prognosis.
With PGT-A, embryo selection is not based solely on morphological assessment, but also incorporates evaluation of chromosomal status, a key parameter closely linked to the embryo’s potential to result in an ongoing pregnancy. By identifying euploid embryos, namely those without detectable aneuploidies, PGT-A enables more accurate embryo selection and contributes to improved outcomes in assisted reproduction.
PGTAdvance-A is GENOMICA’s advanced PGT-A platform, developed to deliver highly accurate and clinically reliable embryo chromosomal assessment.
By integrating next-generation sequencing (NGS) with single nucleotide polymorphism (SNP)-based analysis, PGTAdvance-A provides a powerful dual-assessment strategy that goes well beyond conventional copy-number analysis alone, resulting in a more robust, informative, and clinically meaningful approach to embryo testing.
Designed for IVF specialists, embryologists, and reproductive medicine teams, PGTAdvance-A supports more confident transfer decisions by enabling the identification of embryos with the highest reproductive potential.
High-resolution sequencing of the embryonic genome using NGS technology, which enables DNA quantification across millions of genomic positions on each chromosome, allowing highly accurate determination of chromosomal copy number.
Analysis of thousands of single nucleotide polymorphisms (SNPs) through evaluation of B-Allele Frequency (BAF), aimed at providing orthogonal confirmation of the copy-number results and enhancing the interpretive power of the test.
In addition to quantifying DNA copy number across the genome, PGTADVANCE-A examines thousands of genomic loci at which the DNA sequence may vary between individuals — variations known as single nucleotide polymorphisms (SNPs). These variations provide an additional, independent layer of information that strengthens result interpretation.
Supported by advanced bioinformatic tools and machine-learning algorithms, this dual strategy delivers embryo chromosomal assessment with superior accuracy and reliability compared with conventional approaches based solely on quantitative copynumber analysis, increasing confidence in result interpretation and supporting more precise embryo selection.
Next-generation sequencing quantifies DNA across millions of genomic positions on each chromosome, enabling highly accurate estimation of chromosome copy number.
Chromosome copy number
Chromosome copy number
Chromosome copy number
Thousands of SNP loci are analyzed in parallel to identify characteristic allele patterns that distinguish euploid, monosomic, trisomic, haploid, and triploid states, each displaying distinct SNP signatures.
At each genomic locus, the sequence may be represented by one of two possible allelic variants, conventionally indicated as A or B. The distribution of these alleles follows characteristic configurations in different chromosomal states, enabling a more accurate and reliable distinction between euploid, trisomic and monosomic embryos.
GENOMICA’s advanced in-house PGT-A solution for highly accurate embryo chromosomal screening.
Plus
GENOMICA’s most comprehensive PGT-A workflow, expanding beyond standard aneuploidy testing to provide additional diagnostic and quality-control features to address more complex clinical scenarios.
Gain or loss of one or more entire chromosomes.
Gain or loss of a chromosomal segment. PGTAdvance-A supports detection of segmental abnormalities typically >6 Mb.
Presence of both chromosomally normal and abnormal cell lines within the same embryo biopsy sample.
Mosaicism is associated with reduced implantation potential and an increased risk of miscarriage; however, cases of healthy live births following transfer of mosaic embryos have been reported in the literature.
To further enhance the clinical performance of PGT-A, GENOMICA has developed and validated a parallel SNP-based NGS strategy that complements conventional chromosome copy-number analysis and enables the identification of abnormalities not detected by standard workflows alone.
Single nucleotide polymorphisms (SNPs), single-base sequence variations distributed throughout the genome, provide characteristic inheritance patterns that can be leveraged to detect ploidy abnormalities, contamination, and genetic relatedness between samples.
This integrated dual assessment strategy substantially expands the diagnostic reach of embryo testing and forms the foundation of PGTAdvance-A Plus, designed for clinics requiring the most comprehensive embryo genetic assessment available within a PGT-A workflow.
| Feature | PGTAdvance-A | PGTAdvance-A Plus |
|---|---|---|
| Core technology | NGS + SNP-based analysis | NGS + SNP-based analysis |
| Whole-chromosome aneuploidy | ✓ | ✓ |
| Mosaicism | ✓ | ✓ |
| Segmental imbalance detection | >6 Mb | >1 Mb |
| Microdeletion/microduplication syndromes | — | ✓ |
| Ploidy assessment (haploidy/triploidy) | — | ✓ |
| Uniparental disomy (UPD) | — | ✓ |
| Genetic PN Check | — | ✓ |
| Origin of aneuploidy | — | ✓* |
| Cohort Check (genetic correlation QC) | — | ✓ |
| DNA fingerprinting | Optional* | Optional* |
| Accuracy | ~99% | ~99% |
* Requires parental samples
Plus
NGS and SNP integration delivers highly reliable assessment of embryo chromosomal status.
Orthogonal copy-number and SNP-based data for more robust interpretation.
Advanced analytics minimize over-calling and unnecessary exclusion of viable embryos.
Supports prioritization of embryos with the highest reproductive potential.
Facilitates SET, reducing the risk of multiple pregnancy and associated complications.
Prevents transfer of embryos with chromosomal abnormalities associated with pregnancy loss.
Improved embryo prioritization reduces the number of transfers and IVF cycles required to achieve a successful pregnancy.
PGTAdvance-A Plus adds ploidy analysis, contamination screening, PN check, cohort QC, microdeletion / microduplication syndromes detection, UPD assessment, origin of aneuploidy and DNA fingerprinting.
An advanced test for high-quality chromosomal screening of the embryo.
Proprietary platform designed to overcome key limitations of off-the-shelf PGT-A solutions.
Two independent genomic assessments for greater confidence and accuracy.
Proprietary algorithms minimize analytical subjectivity and support objective, high-quality interpretation.
Clinically relevant detection of segmental gains / losses and mosaic chromosomal patterns.
Identification of UPD, haploidy and triploidy, including forms not captured by NGS-only workflows.
Molecular fertilization assessment that may expand the pool of embryos eligible for transfer.
Confirms expected genetic relatedness within an embryo cohort.
Identifies external and maternal contamination to reduce the risk of misdiagnosis.
Optional parental matching to confirm embryo identity and gamete origin.
Rigorous analytical and clinical validation for evidence-based embryo testing.
Embryo biopsy samples are received by GENOMICA under validated conditions.
Embryonic DNA is analyzed using the PGTAdvance-A assay to identify chromosomal abnormalities.
A formal PGT-A report is issued to the IVF team within the expected turnaround time.
Embryo transfer is scheduled according to the clinical treatment plan.
Download the information brochure dedicated to PGTAdvance-A to explore features, clinical indications, Dual-Seq technology and the Plus option.
Fill out the form for a free consultation. One of our geneticists will contact you, with no obligation, to provide all the information you need about the PGTAdvance-A test.