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:   (1086 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
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