ISSN: 1859 - 2872
Efficiency of combination between PGT-M and PGT-A for embryos of spinal muscular atrophy disease
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Abstract
Objective: To evaluate the efficacy of combination between PGT-M and PGT-A in spinal muscular atrophy disease (SMA). Subject and method: Eleven couples had had at least one child acquired SMA due to homozygous deletion of exon 7 of SMNt gene, they attended invitro fertilization (IVF). Methods: Controlled ovarian stimulation, embryos were cultured until blastocyst stage. Trophoblast cells were biopsied as genetic material, which used for diagnosis by PCR-RFLP and minisequencing. WGA of blastocysts without SMA was used for PGT-A by NGS. Blastocysts diagnosed as unaffected and euploidy, which were selected for transfer in next cycles. Result: 49 blastocysts reached the standard to be biopsied for PGT-M and PGT-A, among those, 17 blastocysts with SMA (34.7%) and 32 blastocysts without SMA (65.3%). 32 unaffected blastocysts continue to be tested by PGT-A, as result 20 euploidy blastocysts (62.5%). Ten families had one unaffected blastocyst for transfer in the next frozen-thawed embryos transfer cycle. Six transfers were successful, resulting in a clinical pregnancy rate of 60% (6/10) and an implantation rate of 60% (6/10). Finally, 6 healthy babies were born. Conclusion: The combination between PGT-M and PGT-A choose healthy embryos, improve the pregnant rate and create healthy babies.
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References
2. Brzustowicz LM, Lehner T, Castilla LH et al (1990) Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature 334(6266): 540-541.
3. Lefebvre S, Burglen L, Reboullet S et al (1995) Identification and characterization of a spinal muscular atrophy determining gene. Cell 80(1): 155-165.
4. Anhuf D, Eggermann T, Rudnik-Schoneborn S, Zerres K (2003) Determination of SMN 1 and SMN 2 copy number using Tag Man technology. Hum Mut 22: 74-78.
5. Ata B, Kaplan B, Danzer H et al (2012) Array CGH analysis shows that aneuploidy is not related to the number of embryos generated. Reprod BioMed Online 24: 614-620.
6. Alpha Scientists in Reproductive Medicine and ESHRE Special Interest Group of Embryo (2011) The Istabul consensus workshop on embryo assessment proceedings of an expert meeting. Human Reproduction 26(6): 1270-1283.
7. Kuwayama M, Vajta G, Ieda S, Kato O (2005) Comparison of open and closed methods for vitrification of human embryos and the elimination of potential contamination. Reprod Biomed Online 11: 608-614.
8. Wirth B (2000) An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mut 15: 228-237.
9. Cobben JM, Van der Steege G, Grootscholten P, de Visser M, Scheffer H, Buys CH (1995) Deletions of survival motor neuron gen in unaffected siblings of patients with spinal muscular atrophy. Am J Hum Genet 57(4): 805-808.
10. Rodrigues NR, Owen N, Talbot K, Patel S, Muntoni F, Ignatius J, Dubowitz V, Davies KE (1996) Gen deletion in spinal muscular atrophy. J Med Genet 33(2): 93-96.
11. Hodes-Wertz B, Grifo J, Ghadir S et al (2012) Idiopathic recurrent miscarriage is caused mostly by aneuploid embryos. Fertil Steril 98: 675-680.
12. Delhanty Joy DA (2013) The origins of genetic variation between individual human
oocytes and embryos: Implications for fertility. Hum Fertil 16: 241-245.
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