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

• Published in: International journal of reproductive biomedicine 2022, Vol.20 (9), p.779-786
• Main Authors: Adrainus Polim, Arie, Handayani, Nining, Kesumapramudya Nurputra, Dian, Melanie Lubis, Anggia, Sirait, Batara, Jakobus, Dennis, Boediono, Arief, Sini, Ivan
• Format: Report
• Language: English
• ISSN: 2476-4108
• DOI: 10.18502/ijrm.v20i9.12068

BackgroundSpinal 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. Case presentationThe 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. ConclusionThis 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.