Volume 20, Issue 9 (September 2022)                   IJRM 2022, 20(9): 779-786 | Back to browse issues page

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Polim A A, Handayani N, Nurputra D K, Lubis A M, Sirait B, Jacobus D, et al . Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report. IJRM 2022; 20 (9) :779-786
URL: http://ijrm.ir/article-1-2194-en.html
Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report
Arie Adrainus Polim * 1, Nining Handayani2 , Dian Kesumapramudya Nurputra3 , Anggia Melanie Lubis4 , Batara Sirait5 , Dennis Jacobus6 , Arief Boediono7 , Ivan Sini2
1- Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Obstetrics and Gynecology, School of Medicine and Health Sciences, Atmajaya Catholic University of Indonesia, Jakarta, Indonesia. , polim.arie@irsi-bunda.org
2- Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia.
3- Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, D.I.Y Jogjakarta, Indonesia. Graduate Program of Clinical Medicine Science, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, D.I.Y Jogjakarta, Indonesia.
4- Morula IVF Jakarta Clinic, Jakarta, Indonesia.
5- Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Obstetrics and Gynaecology, Faculty of Medicine Universitas Kristen Indonesia, Jakarta, Indonesia.
6- Diagnos Genomics, Jakarta, Indonesia.
7- Morula IVF Jakarta Clinic, Jakarta, Indonesia. IRSI Research and Training Centre, Jakarta, Indonesia. Department of Anatomy, Physiology and Pharmacology, IPB University, Bogor, Indonesia.
Abstract:   (1132 Views)

Background: Spinal muscular atrophy (SMA) is characterized by the homozygous deletion of the survival motor neuron-1 gene. Pre-implantation genetic testing for monogenic diseases through in-vitro fertilization program was developed to provide a reliable genetic diagnostic method for SMA.
Case presentation: The couple who was confirmed as carriers of SMA visited the Morula IVF Clinic, Jakarta, Indenesia seeking for an in-vitro fertilization expert opinion in relation to the pre-implantation genetic testing for SMA. Utilizing polymerase chain reaction-restriction fragment length polymorphism, we have successfully screened for unaffected embryos that were characterized by a normal presence of the survival motor neuron-1 exon 7-8 and survival motor neuron-2 exon 7-8. The frozen embryo was subsequently transferred and a healthy unaffected female baby was born with undetected deletion of the survival motor neuron-1 gene.
Conclusion: This successful embryo pre-implantation screening case could potentially accommodate the demands of genetically at-risk couples who are apprehensive about conceiving a child who might inherit monogenic disorders such as SMA.
 

Keywords: In-vitro fertilization, Spinal muscular atrophy, Preimplantation diagnosis.
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Type of Study: Case Report | Subject: Reproductive Genetics
References
1. Wirth B, Karakaya M, Kye MJ, Mendoza-Ferreira N. Twenty-five years of spinal muscular atrophy research: From phenotype to genotype to therapy, and what comes next. Annu Rev Genomics Hum Genet 2020; 21: 231-261. [DOI:10.1146/annurev-genom-102319-103602] [PMID]
2. Stern HJ. Preimplantation genetic diagnosis: Prenatal testing for embryos finally achieving its potential. J Clin Med 2014; 3: 280-309. [DOI:10.3390/jcm3010280] [PMID] [PMCID]
3. Coonen E, van Montfoort A, Carvalho F, Kokkali G, Moutou C, Rubio C, et al. ESHRE PGT consortium data collection XVI-XVIII: Cycles from 2013 to 2015. Hum Reprod Open 2020; 2020: hoaa043. [DOI:10.1093/hropen/hoaa043] [PMID] [PMCID]
4. Niba ETE, Rochmah MA, Harahap NIF, Awano H, Morioka I, Iijima K, et al. Spinal muscular atrophy: New screening system with real-time mCOP-PCR and PCR-RFLP for SMN1 deletion. Kobe J Med Sci 2019; 65: 44-48.
5. Rashnonejad A, Onay H, Atik T, Atan Sahin O, Gokben S, Tekgul H, et al. Molecular genetic analysis of survival motor neuron gene in 460 Turkish cases with suspicious spinal muscular atrophy disease. Iran J Child Neurol 2016; 10: 30-35.
6. Lee I, Alur-Gupta S, Gallop R, Dokras A. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril 2020; 114: 854-860. [DOI:10.1016/j.fertnstert.2020.05.045] [PMID]
7. Fu Y, Shen X, Wu H, Chen D, Zhou C. Preimplantation genetic testing for monogenic disease of spinal muscular atrophy by multiple displacement amplification: 11 unaffected livebirths. Int J Med Sci 2019; 16: 1313-1319. [DOI:10.7150/ijms.32319] [PMID] [PMCID]
8. Hamzi K, Bellayou H, Itri M, Nadifi S. PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: Limits and advantages. J Mol Neurosci 2013; 50: 270-274. [DOI:10.1007/s12031-012-9944-9] [PMID]
9. Zhao M, Lian M, Cheah FSH, Tan ASC, Agarwal A, Chong SS. Identification of novel microsatellite markers flanking the SMN1 and SMN2 duplicated region and inclusion into a single-tube tridecaplex panel for haplotype-based preimplantation genetic testing of spinal muscular atrophy. Front Genet 2019; 10: 1105. [DOI:10.3389/fgene.2019.01105] [PMID] [PMCID]
10. Liu Zh, Zhang P, He X, Liu Sh, Tang Sh, Zhang R, et al. New multiplex real-time PCR approach to detect gene mutations for spinal muscular atrophy. BMC Neurol 2016; 16: 141. [DOI:10.1186/s12883-016-0651-y] [PMID] [PMCID]
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