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 presen...