Applied Genomics - Reproductive Health
Reproductive genetic solution on ion torrent NGS
Abstract

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 straightforward 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.

Speaker


Ritu Hari

Completed MSc human genetics, PhD reproduction genetics from United Kingdom. Board of Genetic Counselling India (BGCI) certified Genetic counsellor. Have previously worked in UK in the field of reproductive genetics. Came back to India and took the biggest challenge to start a full-fledged Medical genetics laboratory in India. Joined CRAFT Hospital in 2013 as Chief Medical Geneticist and established heads the PGD laboratory and takes in charge of all the high-end genetic testing based on NGS. A hospital first In Asia pacific to have the ion torrent S5 XL. Has the credibility of performing first time in INDIA PGD on a tay sach carrier couple and thereby reporting INDIA'S first live birth on a rare mutation for tay sachs. India's first and world's second achondroplasia free baby born after PGD. Successful first-time attempt in India for a delivery of SMN free baby using NGS technology. Have also reported many successful cases of PGD/PGS for chromosomal translocations. Invited as a faculty in many national conferences. Recently felicitated as champion of ISAR year 2020. Has published many chapters and articles in reputed journals and books. Was a part of PGD consensus to frame guidelines for the country as an initiative from ISAR.