19 September 2017

Igenomix: Pioneering a Revolution in Preimplantation Genetic Diagnosis and Screening

The new paradigm for IVF is to aim for the best chance of a healthy baby. But what if even after all the struggle, pain and cost of IVF you have a bab...


The new paradigm for IVF is to aim for the best chance of a healthy baby. But what if even after all the struggle, pain and cost of IVF you have a baby affected with a genetic disorder or chromosomal abnormality? Such an outcome would certainly come as a shock to most couples. The simplest way to reduce repeated IVF failures and avoid the chances of having a child with genetic disorder is to test embryos using Preimplantation Genetic Diagnosis (PGD) and Preimplantation Genetic Screening (PGS).

These tests are targeted towards couples with a family history of genetic disorders, a previous child with genetic disorder, going through IVF failures again and again, miscarriage or termination of an abnormal pregnancy. Furthermore, with PGD + PGS testing, a detailed follow-up of genetic disorders and chromosomal abnormalities in embryos is an extremely powerful way of assessing risk for some patients.

“Even after PGD, about 50% embryos are chromosomally abnormal and will fail to translate into a successful pregnancy. To reduce the risk of miscarriage, chromosomal abnormalities in babies and enable higher pregnancy rates per transfer, Igenomix has now launched a combined product PGD + PGS. This is available in India with immediate effect.” Says Dr. Alan Thornhill, Senior Scientific Advisor & UK Country Head, Igenomix.

“Employing PGD + PGS together can ensure ongoing pregnancy rates of 42.9%**.” Adds Dr. Alan Thornhill

The purpose of PGD is to identify genetic defects in embryos, to determine if the particular embryo should be transferred during an IVF cycle or not. It is a procedure that should be considered carefully and discussed with a fertility specialist when deciding if it is a service you’d like to pursue. PGD is for couples who are at a high risk of passing on genetic disorders to their child, which is discovered following a carrier screening test, family history or the birth of child affected by a specific genetic disorder. These disorders can be autosomal recessive (both parents carry a mutation) or X-linked recessive or dominant (where only one parent needs to carry the mutation to risk having an affected child). PGD is also recommended in cases of couples who have a history of miscarriage resulting from chromosomal abnormalities (for example – translocations). Translocations occur when a part of one chromosome changes place with a piece of another chromosome.

One interesting area of research which can have an impact on clinical decision-making is mosaicism – a phenomenon occurring during development leading to cells having different chromosome complements. Indeed, embryos may have inconsistencies from one cell to the next, so the cell(s) removed during biopsy may not be reflective of the remaining cells which can lead to false positives and false negatives when determining test results. However, additional tests can be performed early in pregnancy to confirm the results of the PGD/PGS procedure. The cost of the procedure varies from one clinic to the next, but usually the assisted reproductive technology procedure adds a few thousand dollars to the cost. However, given the relatively high probability of chromosomal abnormalities present even in PGD embryos unaffected by a specific genetic disorder, patients may weigh up the costs against the benefits of reducing the chance of IVF failure, miscarriage or birth of a child with chromosomal abnormalities. Employing PGS with MitoScore after PGD may further aid in the selection of viable embryos with increased chances of embryo implantation and successful pregnancy.

Igenomix, an international biotechnology company is offering progressive services in reproductive genetics. Its combined experience and advanced research abilities make it one of the world leaders in this field and guarantee the provision of effective solutions personalized to different infertility problems. Now, Igenomix makes it possible to offer couples the chance to increase the likelihood of a healthy child by using PGD and PGS together.

**As published in Fertility and Sterility® Vol. 99, No. 4, March 15, 2013 0015-0282 Copyright ©2013 American Society for Reproductive Medicine, Published by Elsevier Inc. http://dx.doi.org/10.1016/j.fertnstert.2013.02.001

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