Preimplantation Genetic Testing
The blastocyst can be genetically analysed using the technique of PGT A (preimplantation genetictesting for aneuploidy). In this the embryo is biopsied. The 3-4 cells of biopsy are sent for genetic analysis. We have our own in-house genetic testing using the S5 Ian Torrent Next Generation Sequencing. The blastocysts are frozen after biopsy on single individual straws, which are numbered. The report of NGS comes in 1 -2 months. After two months we can transfer a single euploid (genetically normal) blastocyst and obtain very high pregnancy rate, with singleton pregnancy and low miscarriage rate. PGT is helpful in couples with multiple implantation failures in selecting genetically normal embryos and thereby decreasing the time taken to pregnancy PGT-A formerly called PGS ( Preimplantation genetic screening) is also offered to women > 35 years of age who desire for single embryo transfer as the risk of abnormal baby increase with age . It can also be offered to patients who have history of recurrent first trimester miscarriages.
Patients who require pre-implantation genetic diagnosis for genetic disorders like thalassemia, sickle cell anaemia, balanced translocation, spinal muscular dystrophy and fragile x syndrome will also need to undergo trophectoderm biopsy, freezing of Blastocyst, testing the cells using NGS and transferring normal embryo in subsequent embryo Transfer cycles. we already have helped few patients of thalassemia and sickle cell anaemia to have normal babies following PGT M