The next level in preimplantation genetic testing
PGTAdvance Plus is an evolution of PGTAdvance, our latest generation pre-implantation genetic tests (PGT) aimed at identifying genetic diseases and numerical (aneuploidy) or structural (eg. unbalanced translocations, deletions, duplications, etc.) chromosomal abnormalities in embryos, before their transfer to the uterus.
This advanced screening solution goes beyond PGTAdvance test, by incorporating the Next Generation Sequencing (NGS) analysis of numerous variants in the embryonic DNA sequence, known as single nucleotide polymorphisms (SNPs). SNPs are changes in single nucleotides distributed throughout the genome and frequently vary at the same genomic position between individuals.
Combining next-generation sequencing (NGS) with advanced algorithms and machine learning, significantly enhances the accuracy and confidence in selecting the optimal embryo for transfer by incorporating additional features into a standard PGT-A workflow, including:
PGTAdvance Plus enables the detection of both haploidy and triploidy (which affect ~2-3% of pregnancies and is responsible for ~15-18% of miscarriages), chromosomal anomalies not detectable with standard PGT-A techniques. This crucial assessment ensures the selection of embryos with the correct chromosomal content, minimizing the risk of genetic abnormalities.
PGTAdvance Plus also increases the number of viable euploid embryos available for transfer by detecting true 2PN (diploid) embryos from among morphologically identified 0, 1 and 2.1/3PN embryos.
PGTAdvance Plus enables a quality control process, including identification of genetically related embryos, where DNA fingerprinting techniques are employed. This ensures that the tested embryo is genetically related to the others in the patient’s cohort reducing the risk of sample mix-ups due to human error.
PGTAdvance Plus also enables detection of both external cell/DNA and maternal cell contamination, increasing the accuracy and confidence of the testing process significantly reducing the risk of misdiagnosis.
New screening options
Preimplantation genetic testing for chromosomal aneuploidy (PGT-A)
Aneuploidy screening of embryos can help in the selection of chromosomally normal (euploid) embryos for transfer in order to increase the chance of pregnancy, reduce the chance of miscarriage, and reduce the chance of children born with medical conditions. Single nucleotide polymorphisms analysis allows the identification of triploidy (69,XXX and 69,XXY) and haploidy, as well as to carry out a quality control of the results, consisting in the assessment of contamination from cumulus cell DNA and identification of genetically related embryos, helping prevent sample mix-ups.
Preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR)
In patients carrying a balanced structural chromosome anomaly (e.g. chromosomal translocation), a high percentage of the gametes generated may present chromosomal imbalances, and consequently also the embryos generated from these gametes. The test allows detection of structural and numerical chromosomal imbalances, aneuploidies in preimplantation embryos. Chromosomally normal embryos will be selected for transfer, thus improving the reproductive outcome of these couples. Single nucleotide polymorphisms analysis allows the identification of triploidy (69,XXX and 69,XXY) and haploidy, as well as to carry out a quality control of the results, consisting in the assessment of contamination from cumulus cell DNA and identification of genetically related embryos, helping prevent sample mix-ups.
Indication for testing
- Female age over 35
- History of recurrent pregnancy loss
- Previous IVF failure
- Prior child or pregnancy with a chromosome abnormality
- Patients with severe male factor or high rate of diploidy in sperm
- Rescue of high quality embryos derived from abnormally fertilized oocytes (0PN, 1PN, 2.1PN/3PN)
- Reproductive history of triploidy/haploidy
- Previous complete or partial molar pregnancy