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| Analysis on neonatal screening for inherited metabolic diseases in Zhejiang Province from 1999 to 2018 |
| LI Qiang，ZHOU Ying，XU Yan-hua，MAO Hua-qing，XU Yi-hong
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| The Children's Hospital Affiliated to Medical College of Zhejiang University，Hangzhou， Zhejiang 310052，China |
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Abstract Objective To evaluate the quality of neonatal screening work for inherited metabolic diseases，to learn the incidence of inherited metabolic diseases in newborns in Zhejiang Province from 1999 to 2018，and to provide scientific basis for formulating policies for control of birth defects. Methods The neonatal screening data for inherited metabolic diseases in Zhejiang Province from 1999 to 2018 were collected from the neonatal disease screening database of Zhejiang Neonatal Disease Screening Center，including congenital hypothyroidism（CH），phenylketonuria/tetrahydrobiopterin deficiency（PKU/BH4D），congenital adrenal hyperplasia（CAH），glucose-6-phosphate dehydrogenase deficiency（G6PD）and other metabolic disorders. The related indicators，such as the screening rate，prevalence rate，recall rate for suspected positive cases，resample rate of unqualified blood slides and rate of delayed blood slides delivery，were calculated to assess the quality of neonatal screening and understand the epidemic situation of inherited metabolic diseases in Zhejiang Province. Results A total of 10 016 839 newborns were screened and the rate rised from 6.46% in 1999 to 100.62% in 2018. The recall rate for suspected positive cases had exceeded 95% since 2007. The rate of unqualified blood tablets was under 1%（0.06% in 2018）；the resample rate of unqualified blood slides had exceeded 99% since 2004；the rate of delayed blood slides delivery dropped to 0.19% in 2018. The proportion of newborns screened by tandem mass spectrometry reached 92.75% in 2018. There were 13 664 cases of inherited metabolic diseases confirmed，with 6 723 cases of CH（6.71/10 000），472 cases of PKU/BH4D（0.47/10 000），125 cases of CAH（0.38/10 000），5 644 cases of G6PD（22.19/10 000）and 700 cases of other metabolic disorders（2.13/10 000）. The highest prevalence rate of CH，PKU/BH4D，G6PD and other metabolic disorders lay in Lishui，Hangzhou，Ningbo and Quzhou，respectively，which was significantly different in cities（P<0.05）. Conclusion The neonatal screening rate for inherited metabolic diseases，recall rate for suspected positive cases and resample rate of unqualified blood slides are high，while the rate of unqualified blood slides and delayed blood slides delivery have been kept low in Zhejiang Province. The prevalence of CH is above and PKU/BH4D is below the national average.
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Published: 01 November 2019
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