Journal of Inherited Metabolic Disease

, Volume 34, Issue 3, pp 827–833 | Cite as

Newborn screening for congenital hypothyroidism in very-low-birth-weight babies: the need for a second test

  • Sunita Bijarnia
  • Bridget Wilcken
  • Veronica C. Wiley
Original Article



Very-low-birth-weight babies (VLBW) with hypothyroidism may show a delayed postnatal rise in thyroid stimulating hormone (TSH), mainly due to immaturity of the hypothalamic-pituitary-thyroid axis. Transient hypothyroidism is prevalent in VLBW babies and some affected babies are considered to need treatment. There is disagreement about whether a second screening test is needed in VLBW babies to detect all cases that need treatment.


We included in the study all babies with a birth weight ≤ 1,500 g born in New South Wales and the Australian Capital Territory between January 2006 and December 2008. Newborn screening samples for TSH measurement were taken in the first days of life and again at 1 month. During week 1, a blood-spot TSH level of ≥20 mIU/L was considered positive, and at 1 month a positive level was ≥7 mIU/L, and triggered full investigation.


In the cohort of 301,000 babies, 2,313 VLBW babies survived for testing, and 2,117 repeat screening samples were received. Forty-three babies had transient hypothyroidism, with thyroid function normalising before 2 months of age, usually without treatment. Eighteen babies required treatment beyond 2 months of age (1:128 of surviving babies), 16 having had normal TSH results on initial testing, and 12 having levels below 6 mIU/L.


Significant hypothyroidism, transient or permanent, but persisting beyond 2 months of age is common in VLBW babies. There is a delayed rise in TSH in some, and secondary screening at 1 month of age detects babies deemed by local paediatric endocrinologists as needing treatment.


Hypothyroidism Down Syndrome Thyroid Stimulate Hormone Newborn Screening Congenital Hypothyroidism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We are very grateful to the paediatric endocrinologists who kindly supplied us with follow-up data, and to the staff of the NSW Newborn Screening Programme who of course did most of the work.


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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  • Sunita Bijarnia
    • 1
    • 2
    • 4
  • Bridget Wilcken
    • 3
    • 2
  • Veronica C. Wiley
    • 3
    • 2
  1. 1.The Children’s Hospital at WestmeadWestmeadAustralia
  2. 2.The University of SydneySydneyAustralia
  3. 3.New South Wales Newborn Screening ProgrammeThe Children’s Hospital at WestmeadWestmeadAustralia
  4. 4.Sir Ganga Ram HospitalNew DelhiIndia

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