Quality monitoring and evaluation of neonatal diseasescreening in Zhejiang Province / 预防医学

Abstract@#Neonatal disease screening is a major tool for prevention of birth defects, and monitoring and evaluation of neonatal disease screening facilitates the improvements in screening quality and efficiency. A strict quality control of screening, diagnosis, treatment and follow-up of neonatal diseases is performed in Zhejiang Provincial Center for Quality Control of Neonatal Disease Screening. In this study, the data pertaining to screening of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were collected in Zhejiang Province from 2018 to 2020, and the screening rate, recall rate of suspected screening-positive neonates, and detection rate of diseases were calculated to assess the quality of neonatal disease screening. The screening rate and recall rate of neonatal inherited metabolic diseases, hearing loss and congenital heart diseases were high in Zhejiang Province, and the detection of screened diseases was stable, indicating a high overall quality of neonatal disease screening. Increasing the impact of neonatal disease screening and consolidating the screening achievements should be given a high priority during the future quality control of neonatal disease screening in Zhejiang Province.

Screening results of neonatal diseases and exploration of management mode in Yichang in 2017-2019 / 公共卫生与预防医学

Objective To retrospectively analyze the results of neonatal diseases screening in Yichang from 2017 to 2019, understand the incidence and recall of the diseases, and explore the management mode of neonatal disease screening suitable for this region. Methods The subjects were newborns who were delivered in Yichang midwifery institutions from 2017 to 2019 and were screened for neonatal diseases. Heel blood of the newborns was collected for the screening of neonatal diseases, including congenital hypothyroidism (CH), phenylketonuria (PKU), G6PD deficiency, congenital adrenal hyperplasia (CAH) and thalassemia. Those newborns with positive initial screening were recalled for reexamination and confirmation. The recall rates of different diseases were compared by Chi-square test. Results There were 85 891 live births in Yichang area from 2017 to 2019, and 84 063 cases were screened for neonatal diseases, with a screening rate of 97.87%. A total of 6 043 cases were positive in the initial screening, of which 5,047 cases were recalled, with a recall rate of 83.52%. The recall rates of the traditional two diseases (CH and PKU) and the new three diseases (CAH, G6PD deficiency and thalassemia) were significantly different ( χ2= 197.93, P＜0.01). A total of 501 cases were diagnosed. The incidence rate of CH was 1/1,911, the incidence rate of PKU was 1/12 009, the incidence rate of CAH was 1/28 021, the incidence rate of G6PD deficiency was 1/1 121, and the incidence rate of thalassemia was 1/226. Conclusions The neonatal disease screening rate increased year by year in Yichang, but the recall rate of suspicious positive initial screenings decreased. It is necessary to explore a more suitable management mode for the five neonatal disease screenings in this region, improve the recall rate of children with positive screening, reduce the incidence of disabled children, and improve the quality of the birth population.

Newborn Screening for Congenital Hypothyroidism, Galactosemia and Biotinidase Deficiency in Uttar Pradesh, India.

Objective: To assess feasibility and recall rates for newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in a predominantly rural and inner city population in and around the city of Lucknow in Uttar Pradesh, India. Design: Prospective observational study. Setting: Two tertiary-care and 5 district hospitals in and around Lucknow. Participants: All babies born in above hospitals during the study period. Methods: Heel prick samples were collected after 24 hours of life. Dried blood spot TSH, total galactose and biotinidase were assayed by immunofluorometry. Age related cut-offs were applied for recall for TSH. For galactosemia and biotinidase deficiency, manufacturer-suggested recall cut-offs used initially were modified after analysis of initial data. Main outcome measure: Recall rate for hypothyroidism, galactosemia and biotinidase deficiency. Results: Screening was carried out for 13426 newborns, 73% of all deliveries. Eighty-five percent of those recalled for confirmatory sampling responded. Using fixed TSH cut off of 20 mIU/L yielded high recall rate of 1.39%, which decreased to 0.84% with use of age-related cut-offs. Mean TSH was higher in males, and in low birth weight and vaginally delivered babies. Eleven babies had congenital hypothyroidism. Recall rates with modified cut-offs for galactosemia and biotinidase deficiency were 0.32% and 0.16%, respectively. Conclusion: An outreach program for newborn screening can be successfully carried out in similar socio-cultural settings in India. For hypothyroidism, the high recall rate due to early discharge was addressed by age-related cut-offs.

Establishment of Cutoff Value in the Neonatal Screening Tests / 대한소아내분비학회지

PURPOSE: This study was undertaken to determine the adequate cutoff value of the neonatal screening test to decrease recall and false-positive rates. METHODS: During the period of January 1999 through December in Asan Medical Center, newborn screening tests for phenylketonuria, congenital hypothyroidism, congenital adrenal hyperplasia, and galactosemia were performed in 3,775, 3,707, 3,783, and 3,806 newborns respectively using commercial ELISA kits. We reviewed and analyzed the recall rate at currently used cutoff values. RESULTS: 1)In neonatal screening test for congenital hypothyroidism, using a current cutoff value, 17 microIU/mL, the recall rate was 0.9% and using a 99.7% cutoff value, 21.3 microIU/mL, the predictive recall rate was 0.4%. There were no significant differences in the other reports that suggest adequate recall rate. 2)In neonatal screening test for phenylketonuria, using a current cutoff value, 3.6 mg/dL, the recall rate was 1.5% which was no significant difference compared with expected presumptive positive rate, 1.44%. 3)In neonatal screening test for congenital adrenal hyperplasia and galactosemia, the recall rate was high when using current cutoff value. But all results were within normal limits in reevaluation. CONCLUSION: The cutoff values of screening test which are currently recommended by manufacturers of commercial kits for congenital hypothyroidism, congenital adrenal hyperplasia and galactosemia, are needed to be reset to decrease the recall rate by false-positive results on the basis of data from an individual newborn screening laboratory.