Objective To analyze the results of four items for newborn disease screening in 56 425 cases of newborns in Ningde City,Fujian Province.Methods The clinical data of newborns delivered in Ningde City,Fujian Province from 2020 to 2021 were collected.After 72 hours of birth,heel blood samples from all newborns were collected on special filter paper and the levels of thyroid stimulating hormone(TSH),phenylalanine(PHe),glucose-6-phosphate dehydrogenase(G6PD)and 17-α-hydroxy progesterone(17-OHP)were detected using fluorescence analysis.Congenital hypothyroidism(CH),phenylketonuria(PKU),G6PD deficiency and congenital adrenal hyperplasia(CAH)were screened,and suspected positive cases were diagnosed.The results of four items for newborn disease screening in Ningde City were compared.Results The total number of live births from 2020 to 2021 was 56 771,with a total of 56 425 newborns screened.The overall screening rate in urban and rural areas in 2020 was lower than that in 2021,with a statistically significant difference[99.26%(30 381/30 606)vs.99.54%(26 044/26 165),P＜0.05],and the screening rates in rural areas were higher than those in urban areas in both 2020 and 2021,with statistically significant differences.Among 56 425 cases of newborns,4 046 cases were weakly positive for TSH,the weakly positive rate was 7.171%;114 cases were positive,the positive rate was 0.202%;and 89 cases were diagnosed,the incidence rate was 0.158%.The 44 cases were weakly positive for PHe,the weakly positive rate was 0.078%;2 cases were positive,the positive rate was 0.004%;and 15 cases were diagnosed,the incidence rate was 0.027%.The 946 cases of G6PD deficiency were weakly positive,the weakly positive rate was 1.677%;902 cases were positive,the positive rate was 1.599%;and 898 cases were diagnosed,the incidence rate was 1.591%.The 374 cases were weakly positive for 17-OHP,the weakly positive rate was 0.663%;4 cases were positive,the positive rate was 0.007%;1 case was diagnosed,and the incidence rate was 0.002%.The results of four items for newborn disease screening showed a total of 1 003 confirmed cases,including 89 cases of CH,15 cases of PKU,898 cases of G6PD deficiency and 1 case of CAH.Conclusion Newborn disease screening is an effective measure for early diagnosis of CH,PKU,G6PD deficiency and CAH,which is of great significance in reducing birth defects and improving the quality of birth population.
关键词
新生儿筛查四项/促甲状腺激素/苯丙氨酸/葡萄糖-6-磷酸脱氢酶/17-羟孕酮
Key words
Four items for newborn disease screening/Thyroid stimulating hormone/Phenylalanine/Glucose-6-phosphate dehydrogenase/17-α-hydroxy progesterone
万方数据