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

Background: Spinal muscular atrophy (SMA) is characterized by the homozygous deletion of the survival motor neuron-۱ 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-۱ exon ۷-۸ and survival motor neuron-۲ exon ۷-۸. The frozen embryo was subsequently transferred and a healthy unaffected female baby was born with undetected deletion of the survival motor neuron-۱ 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.  

کلیدواژه ها:

In-vitro fertilization ، Spinal muscular atrophy ، Preimplantation diagnosis. ، لقاح آزمایشگاهی ، آتروفی عضلانی نخاعی ، تشخیص قبل از لانه­ گزینی.