Pre-implantation genetic testing: a retrospective observational study of 13 cases of various genetic diseases successfully detected and managed at an IVF centre
| Autor: | Molina N. Patel, Harsha K. Bhadarka, Nayana H. Patel, Niket H. Patel, Piyush N. Chudasama |
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| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | International Journal of Reproduction, Contraception, Obstetrics and Gynecology. 11:2819 |
| ISSN: | 2320-1789 2320-1770 |
| DOI: | 10.18203/2320-1770.ijrcog20222482 |
| Popis: | Pre-implantation genetic testing (PGT) is an advanced form of prenatal genetic testing that is done as a part of ART cycles. The purpose of PGT is to identify genetically normal embryos in a given cohort, in order to select the most desirable embryos for implantation. With the gaining popularity of day 5 trophectoderms biopsy over day 3 blastomere biopsy, the role of PGT has become more clinically significant. To report the data of 13 couples, with diagnosed genetic condition and having risk of transmitting this condition to their offspring’s, who underwent Pre-implantation genetic diagnostics (PGT M/SR). PGT was performed in 13 couples with various rare chromosomal conditions like Hereditary Inclusion body myopathy, Col4a1 gene mutation etc at our Infertility Centre from January 2016 to January 2020. The clinical data of all these patients was reviewed and is reported in our study. A total of 193 oocytes were retrieved and 158 oocytes were fertilized by ICSI. 62 blastocysts were obtained and 55 blastocysts were biopsied for analysis. Among the 35 normal embryos, 17 embryos were transferred. 11 clinical pregnancies were established resulting in 8, disease free, live births. PGT (M/SR) is an effective molecular diagnostic test, that is a ray of hope for many genetically affected couples, as its prevents the transmission of their unwanted genetic condition to their offspring’s. |
| Databáze: | OpenAIRE |
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