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Reproductive Health

Preimplantation Genetic Testing (PGT) and Non-Invasive Prenatal Testing (NIPT) are highly sensitive analytical methods developed for embryo-based genetic evaluation during in vitro fertilization (IVF) and for screening fetal aneuploidy in early pregnancy. We offer NGS-based solutions that are highly clinically accurate, compatible with automation, and have broad coverage.

Non-Invasive Prenatal Testing

NIPT is a highly accurate test that screens for certain genetic disorders by analyzing cell-free fetal DNA (cffDNA) circulating in the mother's blood. It is more sensitive and reliable than traditional screening methods and can be performed as early as the 10th week of pregnancy. Illumina VeriSeqTM NIPT v2* uses whole genome sequencing (WGS) to perform a detailed analysis of fetal DNA. This allows for a comprehensive genetic screening rather than being limited to specific regions.

Trisomy
13, 18, 21

Sex chromosome
aneuploidies

Rare autosomal
aneuploidies

≥7 Mb deletions
and duplications

Chromosome
Aneuploidies

Monogenic
Diseases

Structural
Chromosomal
Abnormalities

Embryo
Selection
Genetic Counseling

Preimplementation Genetic Testing

Preimplantation Genetic Testing (PGT) is used to assess the risk of chromosomal numerical abnormalities, translocations, and hereditary monogenic diseases in embryos obtained during the IVF process. It enables preimplantation genetic selection by providing genomic analysis at the single-cell level.