Padilla Carmencita David
Department of Pediatrics, UP College of Medicine, University of the Philippines Manila.
Southeast Asian J Trop Med Public Health. 2003;34 Suppl 3:87-8.
The Newborn Screening Study Group first introduced newborn screening in the Philippines in 1996. This group of pediatricians and obstetricians from 24 hospitals in the metropolitan Manila area developed a newborn screening program: (1) to establish the incidence of six metabolic conditions--congenital hypothyroidism, congenital adrenal hyperplasia, galactosemia, phenylketonuria, homocystinuria and glucose-6-phosphate dehydrogenase deficiency, and (2) to make recommendations for the adoption of newborn screening nationwide. Newborn screening developed in three phases: (1) routine screening for 5 disorders excluding G6PD deficiency in the 24 member hospitals in Metro Manila, (2) addition of screening for G6PD deficiency to the 5-disorder screening panel, and (3) program evaluation with subsequent reduction in the time of sample collection to 24 hrs of age or older (from the initial requirement of 48 hrs. or older) and discontinuation of screening for homocystinuria as a cost cutting measure (due to non-detection of cases). Data from 201 participating hospitals reported in September 2001 confirmed 48 cases of congenital hypothyroidism, 21 cases of congenital adrenal hyperplasia, 2 cases of galactosemia, 4 cases of hyperphenylalanemia and 1,495 cases of glucose-6-phosphate dehydrogenase deficiency. The Department of Health has recognized the significance of the initial data and efforts are now being undertaken to ensure the nationwide implementation of newborn screening.
新生儿筛查研究小组于1996年首次在菲律宾引入新生儿筛查。这个由来自马尼拉大都会地区24家医院的儿科医生和产科医生组成的小组制定了一项新生儿筛查计划:(1)确定六种代谢疾病——先天性甲状腺功能减退症、先天性肾上腺皮质增生症、半乳糖血症、苯丙酮尿症、高胱氨酸尿症和葡萄糖-6-磷酸脱氢酶缺乏症的发病率,以及(2)就全国采用新生儿筛查提出建议。新生儿筛查分三个阶段开展:(1)在马尼拉大都会区的24家成员医院对5种疾病进行常规筛查,不包括葡萄糖-6-磷酸脱氢酶缺乏症;(2)在5种疾病的筛查项目中增加葡萄糖-6-磷酸脱氢酶缺乏症的筛查;(3)进行项目评估,随后将样本采集时间缩短至出生24小时及以上(从最初要求的48小时及以上),并作为一项削减成本的措施停止高胱氨酸尿症的筛查(由于未检测到病例)。2001年9月报告的来自201家参与医院的数据证实了48例先天性甲状腺功能减退症、21例先天性肾上腺皮质增生症、2例半乳糖血症、4例高苯丙氨酸血症和1495例葡萄糖-6-磷酸脱氢酶缺乏症。卫生部已经认识到初始数据的重要性,目前正在努力确保新生儿筛查在全国范围内实施。