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

• Main Authors: Arie Adrainus Polim (Author), Nining Handayani (Author), Dian Kesumapramudya Nurputra (Author), Anggia Melanie Lubis (Author), Batara Sirait (Author), Dennis Jakobus (Author), Arief Boediono (Author), Ivan Sini (Author)
• Format: Book
• Published: Shahid Sadoughi University of Medical Sciences, 2022-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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-vitrofertilization program was developed to provide a reliable genetic diagnostic method for SMA. Cas...