Detail Birth of Spinal Muscular Atrophy Unaffected Baby from Genetically At-risk Parents Following a Pre-implantation Genetic Screening: A Case Report (Article of International Journal of Reproductive BioMedicine (IJRM) Vol. 20, Iss. 9 October 2022 p. 779–786) Bibliografi Author: Polim, Arie Adrianus ; Handayani, Nining ; Nurputra, Dian Kesumapramudya ; Lubis, Anggia Melanie ; Sirait, Batara ; Jakobus, Dennis ; Boediono, Arief ; Sini, Ivan Topik: in-vitro fertilization; Spinal muscular atrophy; Preimplantation diagnosis. Bahasa: (EN )     Penerbit: Knowledge E Publishing     Tahun Terbit: 2022     Jenis: Article - diterbitkan di jurnal ilmiah internasional Fulltext: B7. Publikasi dr. AriePolim.pdf (1.15MB; 1 download) 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. Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Lihat Sejarah Pengadaan  Konversi Metadata   Kembali

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