Unidad de Reproducción, Hospital Universitario Virgen de las Nieves, Granada, Spain.
Eur J Obstet Gynecol Reprod Biol. 2013 Sep;170(1):183-7. doi: 10.1016/j.ejogrb.2013.06.022. Epub 2013 Jul 15.
To evaluate the clinical utility of genetic testing for cystic fibrosis (CF) and spinal muscular atrophy (SMA) in sperm donors.
We studied the results of the genetic tests for CF and SMA applied to 372 sperm donor candidates. The CF carrier screening test analysed 32 mutations on the CFTR gene. Regarding SMA, the carrier test studied possible deletions of SMN1/2 by Multiplex Ligation-dependent Probe Amplification (MLPA) methodology.
The carrier frequency obtained was greater for SMA than for CF. After adjusting the results obtained for the sensitivity of the tests, and taking into account the prevalence of female carriers in our population, the probability of transmission of the disease to the child from a donor with a negative genetic test was about five times lower in the case of SMA than in CF, although this difference was not statistically significant. The number of donors needed to screen (NNS) to avoid the occurrence of a child being affected by CF and SMA in our population was similar in both cases (1591 vs. 1536).
This study demonstrates the need to include SMA among the diseases for which genetic screening is performed in the process of sperm donor selection. We believe that testing donors for SMA is as important and as useful as doing so for CF.
评估囊性纤维化 (CF) 和脊髓性肌萎缩症 (SMA) 基因检测在精子供体中的临床应用价值。
我们研究了应用于 372 名精子供体候选者的 CF 和 SMA 基因检测结果。CF 携带者筛查试验分析了 CFTR 基因上的 32 个突变。关于 SMA，携带者试验通过多重连接依赖性探针扩增 (MLPA) 方法研究了 SMN1/2 可能的缺失。
SMA 的携带频率大于 CF。在调整测试灵敏度的结果，并考虑到我们人群中女性携带者的患病率后，在阴性基因检测的供体中，疾病向孩子传播的概率在 SMA 中比 CF 低约五倍，但这一差异无统计学意义。为了避免在我们的人群中出现患有 CF 和 SMA 的孩子，在两种情况下所需的筛查供体数量（NNS）是相似的（1591 对 1536）。
本研究表明，有必要将 SMA 纳入精子供体选择过程中进行基因筛查的疾病之列。我们认为，对 SMA 供体进行检测与对 CF 供体进行检测一样重要和有用。
