Mohamed Sarar, Elsheikh Wafa, Al-Aqeel Aida I, Alhashem Amal M, Alodaib Ali, Alahaideb Lujane, Almashary Maher, Alharbi Fahad, AlMalawi Horia, Ammari Amer, Almohaimeed Sulaiman
Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia. E-mail.
Saudi Med J. 2020 Jul;41(7):703-708. doi: 10.15537/smj.2020.7.25147.
To determine the incidence of newborn screening (NBS) disorders and to study the key performance indicators of the program.
This retrospective single-center study enrolled all infants who underwent NBS from January 2012 to December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 NBS disorders. Blood samples were collected 24 hours after birth. If the initial result was positive, a second sample was collected. True positive cases were immediately referred for medical management. Data were extracted from laboratory computerized and non-computerized records using case report forms.
During the study period, 56632 infants underwent NBS with a coverage rate of 100%. Thirty-eight cases were confirmed. The incidence of congenital hypothyroidism was 1:3775. The positive predictive value for the detection of congenital hypothyroidism was 11.8%. Propionic aciduria was the most common metabolic disorder, with an incidence of 1:14158. Very long-chain acyl CoA dehydrogenase deficiency and glutaric aciduria type 1 had an incidence of 1:18877 each. Phenylketonuria, biotinidase deficiency, maple syrup urine disease, and citrullinemia had an incidence of 1:28316 each. However, galactosemia and 3-methyl crotonyl carboxylase deficiency had the lowest incidence of 1:56632.
The NBS coverage rate at our facility was 100%. Congenital hypothyroidism was the most frequently detected disorder with an incidence that matches worldwide figures. The incidence of other inherited disorders was consistent with regional figures.
确定新生儿筛查（NBS）疾病的发病率，并研究该项目的关键绩效指标。
这项回顾性单中心研究纳入了2012年1月至2017年12月在沙特阿拉伯利雅得苏丹王子军事医疗城接受新生儿筛查的所有婴儿。我们筛查了17种新生儿筛查疾病。出生后24小时采集血样。如果初始结果为阳性，则采集第二份样本。真正的阳性病例立即转诊接受医疗处理。使用病例报告表从实验室计算机化和非计算机化记录中提取数据。
在研究期间，56632名婴儿接受了新生儿筛查，覆盖率为100%。确诊38例。先天性甲状腺功能减退症的发病率为1:3775。先天性甲状腺功能减退症检测的阳性预测值为11.8%。丙酸尿症是最常见的代谢紊乱疾病，发病率为1:14158。极长链酰基辅酶A脱氢酶缺乏症和1型戊二酸尿症的发病率均为1:18877。苯丙酮尿症、生物素酶缺乏症、枫糖尿症和瓜氨酸血症的发病率均为1:28316。然而，半乳糖血症和3-甲基巴豆酰羧化酶缺乏症的发病率最低，为1:56632。
我们机构的新生儿筛查覆盖率为100%。先天性甲状腺功能减退症是最常检测到的疾病，其发病率与全球数据相符。其他遗传性疾病的发病率与区域数据一致。
