Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report

• Main Authors: Polim, Arie Adrainus, Handayani, Nining, Nurputra, Dian Kesumapramudya, Lubis, Anggia Melanie, Sirait, Batara, Jakobus, Dennis, Boediono, Arief, Sini, Ivan
• Format: Article PeerReviewed
• Language: English
• Published: Production and Hosting by Knowledge E 2022
• Subjects: Clinical Sciences
• Online Access: https://repository.ugm.ac.id/284143/1/Nurputra-2_KKMK.pdf; https://repository.ugm.ac.id/284143/; https://ijrm.ir/article-1-2194-en.html; https://doi.org/10.18502/ijrm.v20i9.12068
• Institution: Universitas Gadjah Mada

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.