Khaniani Mahmoud Shekari, Derakhshan Sima Mansoori, Abasalizadeh Shamsei
Department of Medical Sciences, Tabriz University, Tabriz, Iran.
J Prenat Med. 2013 Jul;7(3):32-4.
prenatal diagnosis in families at risk for spinal muscular atrophy (SMA) mainly of type 1 is often applied due to the high incidence, most severe and newborn outcome of the disease.
we present our clinical experience for 36 families with history of having at least one child with homozygous deletions of the SMN1 gene between. Seventeen families requested for prenatal prediction and of these cases, 8 fetuses were diagnosed to be at risk of developing the disease and the parents decided to terminate the pregnancy. Nine fetuses were detected with no homozygous deletion of the SMN1 and reached to full term delivery. Follow-up of live born children and abortion products never led to false or negative result.
therefore, application of SMN1 deletion detection by simple PCR assay in families with homozygous deletion of the SMN1 gene could be suggested for prenatal prediction in such families.
由于1型脊髓性肌萎缩症（SMA）发病率高、病情最严重且新生儿预后差，高危家庭的产前诊断经常被应用。
我们展示了36个家庭的临床经验，这些家庭中至少有一个孩子存在SMN1基因纯合缺失。17个家庭要求进行产前预测，在这些病例中，8例胎儿被诊断有患该病的风险，父母决定终止妊娠。9例胎儿检测未发现SMN1基因纯合缺失，足月分娩。对活产儿和流产产物的随访从未出现假阳性或阴性结果。
因此，对于存在SMN1基因纯合缺失的家庭，建议应用简单PCR检测SMN1缺失进行产前预测。
