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Case Study:PGS

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 “Pre-Implantation Genetic Screening (PGS) helps Couple achieve their dream of being parents”

A couple, Malathi and Ram (Names change upon request) were unable to start a family despite trying for over 8 years. This couple had tried various methods for conception but none had worked. Natural conception failed, so they were recommended Intra-Uterine Insemination (IUI); which was able to establish pregnancy but unfortunately these did not come to term and resulted in missed abortions. This couple was undergoing fertility treatment in one of the renowned fertility centers in Bangalore.

Their doctor recommended that they undergo In Vitro Fertilization, wherein the oocyte (egg) from the mother and the sperm from the father are collected. After this, using a technique known as Intra Coronal Sperm Injection (ICSI) fertilization is done in the lab. However even this method failed to yield results. After two unsuccessful IVF cycles, the couple had begun to lose hope of being able to have a child. They were experiencing social, economic as well as emotional stress due to these repeated failures.

Their fertility specialist then recommended to them that they could undergo one more cycle of IVF but this time using Pre-Implantation Genetic Screening (PGS or PGT-A) at Eurofins clinical genetics. PGS is pre-conception genetic tests were one or a few cells are taken from an IVF embryo on day 3 or day 5 stages after fertilization. The removal of these cell/ cells has little to no impact on the developing embryo, especially on Day 5. The cells are removed by an embryologist using Laser Assisted Biopsy. In a Day 5 Biopsy 4-8 Trophectoderm cells (which would form the placenta later) would be biopsied and then sent for analysis. These cells would be analyzed using Next Generation Sequencing (NGS) to determine whether the correct number of Chromosome (46 in numbers); which is known as Euploid or whether there were abnormal chromosome numbers; known as an Aneuploid condition (such as in Down’s Syndrome, where there are three copies of Chromosome 21).

All this information about the test, possible outcomes and limitations along with response to Malathi and Ram’s queries were given by Genetic Counsellors from Eurofins Clinical Genetic India (ECGI) during the Pre-Test Counselling Session. They agreed to go ahead with another cycle of IVF with PGS. Four IVF embryos developed till day 5 and were biopsied. Upon analysis two out the four were found to be Euploid. One of these Euploid Embryos was transferred and implantation was successful. The pregnancy progressed as expected without any abnormalities in the Ultrasound scans and other tests that are routinely conducted. Malathi and Ram had a healthy baby born in August of this year.

Eurofins Clinical Genetics is proud to help couples who are undergoing IVF therapy by offering Pre Implant genetic testing, which will improve success rate use in IVF pregnancy. PreImplantSure allow them achieve a successful pregnancy via IVF in fewer cycles and reduce the risk of miscarriage. Early detection of chromosomal abnormalities gives piece of mind to entire family.

Case Study by Dr Sam Balu, Director Eurofins Clinical Genetics

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