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Preimplantation genetic screening (PGS) for aneuploidy is a powerful genetic test that may be performed on embryos during IVF treatment to screen for numerical chromosomal abnormalities. PGS is performed on a small embryo biopsy prior to transfer and identifies which embryos are chromosomally normal. Chromosomally normal embryos are the most likely to develop to term and to be born as a healthy baby. PGS testing helps IVF physicians and patients decide which embryos to transfer.
PGS offers comprehensive analysis of all 24 chromosome types: the two sex chromosomes (X and Y) and the 22 other non-sex chromosomes (autosomes). Normally there are 23 pairs of chromosomes in each human cell. A numerical change in the number of chromosomes is called aneuploidy. Aneuploidy is responsible for the vast majority of spontaneous miscarriages and can result in birth defects and intellectual disability in live born babies. Most types of aneuploidy are not compatible with life. The most common syndromes caused by non-sex chromosome aneuploidies are Down syndrome, Edwards syndrome, and Patau syndrome. Aneuploidy is usually not inherited and can involve any chromosome; however, the likelihood of embryos being aneuploid increases with the age of the mother.
Igenomix uses Next Generation Sequencing (NGS) as an effective technique for the analysis of copy number variation in single cells. This technology is specially developed for analysis of only a few cells or even a single cell as is required for preimplantation genetic testing. Validation studies with cell lines of known karyotype have been performed in our laboratory to optimize library preparation, timing and diagnosis accuracy. PGS testing with NGS is 99% accurate.
Preimplantation genetic diagnosis (PGD) for single gene disorders is a powerful genetic test that may be performed during IVF treatment to screen embryos that are at risk to develop a serious genetic disease. PGD is performed on a small embryo biopsy and identifies which embryos are not at increased risk of developing the disease. The goal of PGD testing is to help couples build a healthy family. PGD is done before the pregnancy is established and helps avoid difficult decisions and situations.
Our DNA is organized into small segments called genes. There are about 25,000 genes in humans, all of which influence our growth and development. Just like chromosomes come in pairs, most genes also come in pairs, one copy inherited from the egg and the other from the sperm. When the function of a gene is altered by a change (called a mutation) in the DNA sequence, a genetic disease results. These mutations can be transmitted in families from generation to generation, or can be a new change in an individual (de novo).
Common examples of conditions caused by mutations in single genes (monogenic diseases) include beta thalassaemia, sickle cell anaemia, duchenne muscular dystrophy, spinal muscular atrophy (SMA), cystic fibrosis, and Fragile X disease. During the IVF process, PGD can be used to screen embryos for these conditions. Embryos that are not at increased risk for developing the single gene disorder are identified and preferentially transferred for the pregnancy. The goal of PGD testing is to help couples build healthy families.
To perform PGD testing, a pre PGD work-up is required. A unique probe is customized for each couple and used to perform PGD testing on embryos. To build the probe, blood samples from the couple and often from other family members are required. Igenomix’ team is made up of the world’s finest experts in the PGD field who are able to design probes for even the most rare and complicated mutations. Our pre-PGD workup is the first in the country to offer such services.
Igenomix uses state of the art technology for PGD. Whenever possible, Igenomix uses a multiple detection approach to ensure the most highly reliable results. Using direct detection, PCR is used to detect the specific disease causing mutation. Linkage analysis uses PCR to detect informative STR markers that are linked to the disease-causing gene. Our multiple detection strategy minimizes the chances of no results or misdiagnosis due to allele drop out (ADO). With our technology, our PGD testing is 98-99% accurate.