Adrainus Polim Arie, Handayani Nining, Kesumapramudya Nurputra Dian, Melanie Lubis Anggia, Sirait Batara, Jakobus Dennis, Boediono Arief, Sini Ivan
Morula IVF Jakarta Clinic, Jakarta, Indonesia.
IRSI Research and Training Centre, Jakarta, Indonesia.
Int J Reprod Biomed. 2022 Oct 10;20(9):779-786. doi: 10.18502/ijrm.v20i9.12068. eCollection 2022 Sep.
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.
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.
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.
脊髓性肌萎缩症（SMA）的特征是生存运动神经元1基因纯合缺失。通过体外受精程序进行单基因疾病的植入前基因检测，旨在为SMA提供一种可靠的基因诊断方法。
一对被确认为SMA携带者的夫妇前往印度尼西亚雅加达的桑葚胚体外受精诊所，寻求有关SMA植入前基因检测的体外受精专家意见。利用聚合酶链反应-限制性片段长度多态性技术，我们成功筛选出未受影响的胚胎，其特征为生存运动神经元1外显子7-8和生存运动神经元2外显子7-8正常存在。随后移植了冷冻胚胎，一名健康未受影响的女婴出生，其生存运动神经元1基因未检测到缺失。
这一成功的胚胎植入前筛查病例可能满足有遗传风险夫妇的需求，这些夫妇担心怀上可能遗传SMA等单基因疾病的孩子。
