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Adrainus Polim, A., Handayani, N., Kesumapramudya Nurputra, D., Melanie Lubis, A., Sirait, B., Jakobus, D., Boediono, A., & Sini, I. (2022). Birth of spinal muscular atrophy unaffected baby from genetically at-risk parents following a pre-implantation genetic screening: A case report. International Journal of Reproductive BioMedicine (IJRM), 20(9), 779–786. https://doi.org/10.18502/ijrm.v20i9.12068

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

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authors

  • Arie Adrainus Polim

    Arie Adrainus Polim

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.
  • Nining Handayani

    Nining Handayani

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.
  • Dian Kesumapramudya Nurputra

    Dian Kesumapramudya Nurputra

    Department of Child Health, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, D.I.Y Jogjakarta, Indonesia
  • Anggia Melanie Lubis

    Anggia Melanie Lubis

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.
  • Batara Sirait

    Batara Sirait

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.
  • Dennis Jakobus

    Dennis Jakobus

    Diagnos Genomics, Jakarta, Indonesia.
  • Arief Boediono

    Arief Boediono

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.
  • Ivan Sini

    Ivan Sini

    Morula IVF Jakarta Clinic, Jakarta, Indonesia.

Published Date

  • Oct 12, 2022

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

International Journal of Reproductive BioMedicine (IJRM) / International Journal of Reproductive BioMedicine (IJRM): Volume 20, Issue No. 9 / Pages 779–786

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-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.


Key words: In-vitro fertilization, Spinal muscular atrophy, Preimplantation diagnosis.

References
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