Doctors discuss about the Scope for NIPT and benefits of PGS/PGD in IVF

Bangalore, February 7th, 2018: MedGenome, the market leader in genomics-based diagnostics and research, along with Apollo CM fertility, a leading In Vitro Fertilization (IVF) chain, organized a Continuing Medical Education (CME) session yesterday to discuss the scope for NIPT (non-invasive prenatal test) and benefits of Pre-implantation Genetic Screening/Diagnosis (PGS/D) in IVF. The CME hosted talks by Dr Priya Kadam, Programme Director, NIPT, MedGenome and Dr Sam Balu, Manager Scientific Affairs, MedGenome. The CME was attended by city’s leading consultants and specialists from the field of obstetrics/gynecology and assisted reproduction.

Dr Priya Kadam,Programme Director, NIPT, MedGenome spoke about the need to offer non-invasivescreening/testing (NIPT) solutions to all pregnant women; especiallyconsidering the risk of Microdeletion Syndromes, which occur irrespective ofmaternal age. DiGeorge syndrome is caused by a loss of a specific small part ofchromosome 22 and is the second most common chromosomal abnormality after Downsyndrome. It leads to developmental delay, intellectual abnormalities,structural defects (such as cleft lip and palate) and/or organ malformationslike congenital heart disease. The frequency of this syndrome is estimated tobe about 1 in every 3000 live births (the risk can go up to 1 in 1000prenatally). Speaking on the management of these disorders she said, “There isno cure for such disorders. However commonly occurring, clinically relevantchromosomal abnormalities such as aneuploidies and microdeletions can bescreened during pregnancy with non-invasive prenatal screening. Blood collectedfrom the mother’s arm contains the cell-free DNA from the growing baby. ThisDNA is isolated and screened for the chromosomal abnormalities associated withthese disorders. The results can tell scientists and clinicians about thebaby’s risk of being affected by these conditions. This information can empowerthe parents to make informed choices, enable them to be fully aware of theseconditions and seek medical help.” She also touched upon the capability ofMedGenome’s NIPT test to screen twins, egg donor and surrogate pregnancies forsuch chromosomal abnormalities.


Dr Sam Balu, ManagerScientific Affairs, MedGenome discussed the increasing burden of infertilitywith about 10% of the nation’s population affected by the condition which hasled to an increasing demand for IVF. However a drawback in IVF is a lowersuccess rate, which can results in a patient requiring multiple cycles for asuccessful pregnancy.  Dr. Balu highlighted that even with IVF the chancesof getting pregnant being around 40% on average, but by including PGS in theprocess the, chances may be increased up to 70%.The aim of using PGS is toimprove the overall success rate of IVF pregnancy and reduce the number of IVFcycles required to achieve a successful pregnancy. Similarly using PGD, IVFEmbryos can be tested for disease causing mutation(s) inherited for theirparents (such as Thalassemia and Sickle Cell Anemia). This would allow theclinician to selectively implant embryos without these mutations, therebyallowing such couples to have a child unaffected by the disorder. Talking onthe benefits of PGS and PGD he said, “Technology advances in medicine hashelped couples to embrace parenthood which otherwise was a distant dream.PGS/PGD is a latest genomic technology which will significantly improve thechances of having a healthy baby.” 

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