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

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

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...

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Bibliographic Details
Main Authors: Arie Adrainus Polim, Nining Handayani, Dian Kesumapramudya Nurputra, Anggia Melanie Lubis, Batara Sirait, Dennis Jakobus, Arief Boediono, Ivan Sini
Format: Article
Language:English
Published: Shahid Sadoughi University of Medical Sciences 2022-09-01
Series:International Journal of Reproductive BioMedicine
Subjects:
in-vitro fertilization, spinal muscular atrophy, preimplantation diagnosis.
Online Access:https://doi.org/10.18502/ijrm.v20i9.12068

Internet

https://doi.org/10.18502/ijrm.v20i9.12068

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