MedGenome, the market leader in genomics-based diagnostics and research, along with Apollo CM Fertility, an In Vitro Fertilization (IVF) chain, organized a Continuing Medical Education (CME) programme.  It highlighted the scope for NIPT (non-invasive prenatal test) and benefits of pre-implantation genetic screening/diagnosis (PGS/D) in IVF which was attended by medical consultants related to the field.
 
The CME brought to the fore the need to offer NIPT to all pregnant women; especially considering the risk of microdeletion syndromes, which occur irrespective of maternal age.
 
DiGeorge syndrome is caused by a loss of a specific small part of chromosome 22 and is the second most common chromosomal abnormality after down syndrome. It leads to developmental delay, intellectual abnormalities, structural defects and malformations like congenital heart disease. The frequency of this syndrome is estimated to be about 1 in every 3000 live births and the risk can go up to 1 in 1,000 prenatally.
 
Speaking on the management of these disorders Dr Priya Kadam, Programme Director, NIPT, MedGenome, said that there is no cure for such disorders. However commonly occurring, clinically relevant chromosomal abnormalities such as aneuploidies and microdeletions can be screened during pregnancy with non-invasive prenatal screening.
 
The increasing burden of infertility with about 10% of the nation’s population affected by the condition which has led to a demand for IVF. However a drawback in IVF is a lower success rate, which can results in a patient requiring multiple cycles for a successful pregnancy, said Dr Sam Balu, manager scientific affairs, MedGenome .
 
The aim of using PGS is to improve the overall success rate of IVF pregnancy. Similarly IVF embryos can be tested for disease causing mutations inherited for their parents such as thalassemia and sickle cell anemia. This would allow the clinician to selectively implant embryos without these mutations, thereby allowing such couples to have a child unaffected by the disorder, he added.