■脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传疾病,是儿童神经肌肉疾病中最常见的疾病之一。我们的筛查是预防出生缺陷更有意义的计划,为医疗保健专业人员提供重要资源,遗传咨询师,和政策制定者参与设计战略,以预防和管理SMA。
■我们通过定量实时PCR筛选了从2020年到现在的39,647名参与者,包括7,231名怀孕前参与者和32,416名怀孕参与者,检测受试者提供的DNA样本中是否存在SMN1基因EX7和EX8缺失。为了验证我们发现的准确性,我们还利用多重连接依赖性探针扩增(MLPA)来确认通过定量实时PCR获得的筛选结果的可靠性.
■在接受筛查的39,647名参与者中,726名参与者是SMN1的携带者。计算得出的总体载波率为1.83%(95%置信区间:0.86-2.8%)。经过筛查,共有592名妊娠带菌者接受了遗传咨询,只有503名配偶(84.97,95%置信区间:82.09~87.85%)自愿接受了SMA筛查.
■这项研究为女性人群中SMA携带者的患病率和分布提供了重要的见解。对726名无症状携带者的识别强调了全面筛查计划的必要性,以识别有风险的个体,并确保采取适当的干预措施,以最大程度地减少SMA相关疾病的影响。
UNASSIGNED: Spinal muscular atrophy (SMA) is an autosomal recessive disease that is one of the most common in childhood neuromuscular disorders. Our screenings are more meaningful programs in preventing birth defects, providing a significant resource for healthcare professionals, genetic counselors, and policymakers involved in designing strategies to prevent and manage SMA.
UNASSIGNED: We screened 39,647 participants from 2020 to the present by quantitative real-time PCR, including 7,231 pre-pregnancy participants and 32,416 pregnancy participants, to detect the presence of SMN1 gene EX7 and EX8 deletion in the DNA samples provided by the subjects. To validate the accuracy of our findings, we also utilized the Multiplex Ligation-dependent Probe Amplification (MLPA) to confirm the reliability of screening results obtained by quantitative real-time PCR.
UNASSIGNED: Among the 39,647 participants who were screened, 726 participants were the carriers of SMN1. The overall carrier rate was calculated to be 1.83% (95% confidence interval: 0.86-2.8%). After undergoing screening, a total of 592 pregnancy carriers were provided with genetic counseling and only 503 of their spouses (84.97, 95% confidence interval: 82.09-87.85%) voluntarily underwent SMA screening.
UNASSIGNED: This study provides crucial insights into the prevalence and distribution of SMA carriers among the female population. The identification of 726 asymptomatic carriers highlights the necessity of comprehensive screening programs to identify at-risk individuals and ensure appropriate interventions are in place to minimize the impact of SMA-related conditions.