NGS technology has grown leaps and bounds in reproductive genetics field. Infertility is on the rise and with the mushrooming of so many IVF clinics in our country and increasing number of IVF cases there is a great demand of add on technologies which will improve IVF outcome. Aneuploidies in the Preimplantation embryos have been already proved and chromosomal abnormalities impacts the IVF outcome by causing repeated IVF failures/ repeated miscarriages. Earlier FISH technology was only available to analyse limited number of chromosomes and many RCT’S did not publish favourable outcome. Comprehensive chromosome screening (CCS) with greater precision and accuracy is now possible on NGS which seems to improve IVF outcome. However, there are many controversies still on whom to apply PGT and whom not to. Personal experience is what counts and availability of such a par technology should not be made devoid from patients. Clinical benefits of offering PGT are many and should be carefully assessed. Chromosomal abnormalities follow a straight forward diagnosis either on embryo level or postnatal. Postnatally – couple carriers of any balanced translocation can be candidates of repeated abortions due to the unbalanced form of chromosomal translocation. In such cases PGT SR can be offered to overcome the reproductive issues. Additionally traditional FISH based method studies only the translocation chromosome leaving behind the other chromosomes non tested. However PGT SR provides CCS which improves pregnancy outcomes.
Single gene diseases were also traditionally carried out by PCR and then sangers sequencing for PGT M. With the availability of genome wide linkage analysis and the development of NGS PANELS for diseases, it has now become possible to perform PGT M for known genetic defects thereby reducing technical challenges and improving accuracy.
NGS based reproductive genetic tests provides a complete solution from Preimplantation level, prenatal level to postnatal genec diagnosis.