Skip to main content
SpringerLink
Log in

Neonatal screening for congenital hypothyroidism and phenylketonuria in China

  • Original Article
  • Published:
World Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Background

Neonatal screening is helpful to prevent serious disabitily and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China.

Methods

We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of neonatal screening centers collected by the National Center for Clinical Laboratory.

Results

Of 18.8 million newborns screened from 1985 to 2007, 9198 were identified with CH, giving a prevalence of 1/2047. In 19.0 million newborns screened in the same period, 1638 had PKU, with a prevalence of 1/11 572. An increasing number of neonates have been subjected to neonatal screening in China annually during this period. Data from Zhejiang Neonatal Screening Center showed that the recall rate of neonates suspected with CH and PKU was 95.52% in 2007. Confirmatory tests were performed and treatments were initiated in most of the neonates with CH and PKU within a month after birth.

Conclusions

More governmental support at different levels is needed to make neonatal screening more efficient. The screening should be improved with a satisfactory control system including shorter time of report and a higher recall rate.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Geelhoed EA, Lewis B, Hounsome D, O’leary P. Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. J Paediatr Child Health 2005;41:575–579.

    Article  PubMed  CAS  Google Scholar 

  2. Gu XF, Wang JJ, Ye J, Cheng XM. A cost-benefit evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism. Zhonghua Yu Fang Yi Xue Za Zhi 2000;34:147–149.

    PubMed  CAS  Google Scholar 

  3. Therrell BL, Johnson A, Williams D. Status of newborn screening programs in the United States. Pediatrics 2006;117:S212–S252.

    Article  PubMed  Google Scholar 

  4. Xu YH, Qin YF, Zhao ZY. Retrospective study on neonatal screening for congenital hypothyroidism and phenylketomuria in China in the past 22 years. Zhonghua Er Ke Za Zhi 2009;47:18–22.

    PubMed  Google Scholar 

  5. Mao HQ, Xu YH, Cao LP, Yang RL, Zhou XL. The relationship between the value of blood thyroid stimulating hormone on filter paper and the detection rate for congenital thyroidism. Zhejiang Yu Fang Yi Xue 2006;18:48.

    Google Scholar 

  6. Gu XF, Wang ZG. Screening for phenylketonuria and congenital hypothyroidism in 5.8 million neonates in China. Zhonghua Yu Fang Yi Xue Za Zhi 2004;38:99–102.

    PubMed  Google Scholar 

  7. Tian GL. Neonatal screening in several regions of Shanghai in the past 18 years. Chin Prev Med 2004;5:484–485.

    Google Scholar 

  8. Wang J, Wang BZ, Zhang Z, Hu YL, Zhao DH, Su L, et al. Screening and group distribute regularity of congenital hypothyroidism of neonatal in Henan province. Zhonghua Liu Xing Bing Xue Za Zhi 2006;27:825–826.

    PubMed  Google Scholar 

  9. Chen XX, Yang RL, Shi YH, Cao LP, Zhou XL, Mao HQ, et al. Screening for congenital hypothyroidism in neonates of Zhejiang Province during 1999–2004. Zhejiang Da Xue Xue Bao Yi Xue Ban 2005;34:304–307.

    PubMed  Google Scholar 

  10. Zhang YM. Neonatal screening in Beijing in the past 10 years. Chin Primary Health Care 2001;15:39–40.

    CAS  Google Scholar 

  11. Huo JP, Cai ZY, Hu DB, Cao XY, Chen HW. Neonatal screening in Zhanjiang area in the past 8 years. Chin J Child Health Care 2006;14:526–527.

    Google Scholar 

  12. Toublanc JE. Guidelines for neonatal screening programs for congenital hypothyroidism. Working Group for Neonatal Screening in Paediatric Endocrinology of the European Society for Paediatric Endocrinology. Acta Paediatr Suppl 1999;88:13–14.

    Article  PubMed  CAS  Google Scholar 

  13. Korada M, Kibirige M, Turner S, Day J, Johnstone H, Cheetham T. The implementation of revised guidelines and the performance of a screening programme for congenital hypothyroidism. J Med Screen 2008;15:5–8.

    Article  PubMed  CAS  Google Scholar 

  14. Gu XF, Zhou JD, Ye J. Neonatal screening for congenital adrenal hyperplasia in Shanghai areas. Zhonghua Yu Fang Yi Xue Za Zhi 2002;36:16–18.

    PubMed  Google Scholar 

  15. Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clin Chem 1998;44:2401–2402.

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pediatric Health Care, Children’s Hospital, Zhejiang University School of Medicine and Zhejiang Key Laboratory for Diagnosis and Therapy of Neonatal Diseases, Hangzhou, 310003, China

    Jian-Ying Zhan, Yu-Feng Qin & Zheng-Yan Zhao

Authors
  1. Jian-Ying Zhan
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Yu-Feng Qin
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Zheng-Yan Zhao
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Zheng-Yan Zhao.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Zhan, JY., Qin, YF. & Zhao, ZY. Neonatal screening for congenital hypothyroidism and phenylketonuria in China. World J Pediatr 5, 136–139 (2009). https://doi.org/10.1007/s12519-009-0027-0

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12519-009-0027-0

Key words

Search

Navigation