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目的 总结近10 年来广州市新生儿筛查先天性甲状腺功能低下( CH) 、苯丙酮尿症( PKU) 及葡萄糖6磷酸脱氢酶( G6PD) 缺陷的结果。 方法 标本采用出生72 小时后新生儿足跟血滤纸片。CH 筛查测定促甲状腺激素( TSH) ,PKU 筛查测定血苯丙氨酸,G6PD 缺陷筛查采用荧光斑点法定性测定G6PD 活性。 结果 近10 年来共筛查203 215 例新生儿。以1998 年统计,全市新生儿筛查覆盖率为46 .5 % ,检出CH 43 例,发病率为1/4 726 ;PKU 7 例,发病率为1/29 030 ;G6PD 缺陷总检出率为3 .7 % ( 男5 .0 % ;女2 .3 % ) 。 结论 新生儿筛查是儿童保健工作的重要组成部分,仍需进一步提高筛查覆盖率、检出率、召回率及治疗率
Objective To summarize the results of screening neonatal screening of congenital hypothyroidism (CH), phenylketonuria (PKU) and glucose6phosphate dehydrogenase (G6PD) in Guangzhou in recent 10 years. Methods Specimens were taken from newborn heel hematology filter paper 72 hours after birth. CH screening determination of thyroid stimulating hormone (TSH), PKU screening for determination of blood phenylalanine, G 6 PD screening using fluorescent spot quantitative determination of G 6 PD activity. Results A total of 203,215 newborns were screened over the past 10 years. In 1998 statistics, the city’s newborn screening coverage was 46.5%, CH 43 cases were detected, the incidence was 1/7226; 7 cases of PKU, the incidence was 1/29 030; G-6-PD deficiency The overall detection rate was 3.7% (male 5 .0%; female 2.3%). Conclusion Neonatal screening is an important part of child health care, and the screening coverage, detection rate, recall rate and treatment rate need to be further improved