Pre-implantation genetic testing: a retrospective observational study of 13 cases of various genetic diseases successfully detected and managed at an IVF centre
DOI:
https://doi.org/10.18203/2320-1770.ijrcog20222482Keywords:
Pre-implantation genetic testing for monogenic disorder/structural rearrangement, In vitro fertilization, Genetic, ChromosomalAbstract
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.
References
Monk M, Handyside AH. Sexing of preimplantation mouse embryos by measurement of X-linked gene dosage in a single blastomere. J Reprod Fertil. 1988;82(1):365-8.
Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-70.
Patel N, Jadeja Y, Chudasama P. Pre-implantation Genetic Screening and Diagnosis. In: Patel N, Esteves S, eds. Advances in Assisted Reproductive Technology. India: Jaypee Books; 2019.
Patel NH, Bhadarka HK, Patel KB. Embryo genome profiling by single-cell sequencing for successful Pre-implantation genetic diagnosis in a family harboring COL4A1 c.1537G>A; p.G513S mutation. J Hum Reprod Sci. 2016;9(3):200-6.
Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990;344(6268):768-70.
Harper JC, Wilton L, Traeger-Synodinos J, Goossens V, Moutou C, SenGupta SB, et al. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update. 2012;18(3):234-47.
Strom CM, Levin R, Strom S, Masciangelo C, Kuliev A, Verlinsky Y. Neonatal outcome of preimplantation genetic diagnosis by polar body removal: the first 109 infants. Pediatrics. 2000;106(4):650-3.
Weatherall DJ. The new genetics and clinical practice. Oxford: Oxford University Press; 1991: 1-3.
Morin SJ, Eccles J, Iturriaga A, Zimmerman RS. Translocations, inversions and other chromosome rearrangements. Fertil Steril. 2017;107(1):19-26.
Allsopp M, Rice C, Karapurkar T, Doernberg N, Boyle C, Murphy C. Prevalence of autism in a US metropolitan area. JAMA. 2003;289(1):49-55.
ESHRE PGT Consortium Steering Committee, Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, et al. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open. 2020;2020(3):hoaa021.
