Skip to main content

Advertisement

SpringerLink
Log in

Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) – Part I: Screening and Confirmation of Diagnosis

  • Review Article
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

Abstract

The Indian Society for Pediatric and Adolescent Endocrinology has formulated locally relevant Clinical Practice Guidelines for newborn screening, diagnosis and management of primary congenital hypothyroidism (CH). Recommendations: Screening should be done for every newborn using cord blood, or postnatal blood, ideally at 48 to 72 h of age. On this screen sample, neonates with TSH > 20 mIU/L serum units (or >34 mIU/L for samples taken between 24 to 48 h of age) should be recalled for confirmation. For screen TSH > 40 mIU/L, immediate confirmatory venous T4/FT4 and TSH, and for milder elevation of screen TSH, a second screening TSH at 7 to 10 d of age, should be taken. Preterm and low birth weight infants should undergo screening at 48–72 h postnatal age. Sick babies should be screened at least by 7 d of age. Venous confirmatory TSH >20 mIU/L before age 2 wk and >10 mIU/L after age 2 wk, with low T4 (<10 μg/dL) or FT4 (<1.17 ng/dL) indicate primary CH and treatment initiation. Imaging is recommended by radionuclide scintigraphy and ultrasonography after CH is biochemically confirmed but treatment should not be delayed till scans are performed. Levothyroxine is commenced at 10 to 15 μg/kg in the neonatal period. Serum T4/FT4 is measured at 2 wk and TSH and T4/FT4 at 1 mo, then 2 monthly till 6 mo, 3 monthly from 6 mo-3 y and every 3–6 mo thereafter. Babies with the possibility of transient congenital hypothyroidism should be re-evaluated at age 3 y, to assess the need for lifelong therapy.

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

Fig. 1

Similar content being viewed by others

Abbreviations

TSH :

Thyroid stimulating hormone

T4 :

Thyroxine

FT4 :

Free thyroxine

CH :

Congenital hypothyroidism

NBS :

Newborn screening

DBS :

Dried blood spot

LBW :

Low birth weight

VLBW :

Very low birth weight

IUGR :

Intrauterine growth retardation

TBG :

Thyroxine binding globulin

References

  1. Gopalakrishnan V, Joshi K, Phadke SR, et al. Newborn screening for congenital hypothyroidism, galactosemia and biotinidase deficiency in Uttar Pradesh, India. Indian Pediatr. 2014;51:701–5.

    Article  PubMed  Google Scholar 

  2. LaFranchi SH. Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis. 2010;33:S225–33.

    Article  PubMed  Google Scholar 

  3. Swiglo BA, Murad MH, Schunemann HJ, et al. A case for clarity, consistency and helpfulness: state-of-the-art clinical practice guidelines in endocrinology using the grading of recommendations, assessment, development, and evaluation system. J Clin Endocrinol Metab. 2008;93:666–73.

    Article  CAS  PubMed  Google Scholar 

  4. Guthrie R. Screening for inborn errors of metabolism in the newborn infant- a multiple test program. Birth Defects Original Article, Series IV 1962. p. 92–8.

  5. Dussault JH, Coulombe P, Laberge C, Letarte J, Guyda H, Khoury K. Preliminary report on a mass screening program for neonatal hypothyroidism. J Pediatr. 1975;86:670–4.

    Article  CAS  PubMed  Google Scholar 

  6. Fisher DA, Dussault JH, Foley TP Jr, et al. Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr. 1979;94:700–5.

    Article  CAS  PubMed  Google Scholar 

  7. Colaco MP, Desai MP, Ajgaonkar AR, et al. Neonatal screening for hypothyroidism. Indian Pediatr. 1984;21:695–700.

    CAS  PubMed  Google Scholar 

  8. Desai MP, Upadhye P, Colaco MP, et al. Neonatal screening for congenital hypothyroidism using the filter paper thyroxine technique. Indian J Med Res. 1994;100:36–42.

    CAS  PubMed  Google Scholar 

  9. Kaur G, Srivastav J, Jain S, et al. Preliminary report on neonatal screening for congenital hypothyroidism, congenital adrenal hyperplasia and glucose-6-phosphate dehydrogenase deficiency: a Chandigarh experience. Indian J Pediatr. 2010;77:969–73.

    Article  PubMed  Google Scholar 

  10. Mathai S. Newborn screening for congenital hypothyroidism- experience from India. Abstract presented at 8th Asia Pacific Regional Meeting of the International Society for Neonatal Screening. New Delhi, Sep 2013.

  11. Rama Devi AR. Newborn screening in India, experience from pilot initiative (ICMR Multicenter Project). Abstract presented at 8th Asia Pacific Regional Meeting of the International Society for Neonatal Screening. New Delhi, Sep 2013.

  12. Kishore KR, Ranieri E, Fletcher J. Newborn screening for congenital hypothyroidism in India - is overdue. J Neonatal Biol. 2014;3:129.

    Google Scholar 

  13. Fisher DA, Klein AH. Thyroid development and disorders of thyroid function in the newborn. N Engl J Med. 1981;304:702–12.

    Article  CAS  PubMed  Google Scholar 

  14. Delange F, Camus M, Winkler M, Dodian J, Ermans A. Serum thyrotrophin determination on day 5 of life as screening procedure for congenital hypothyroidism. Arch Dis Child. 1977;52:89–96.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  15. Vela M, Gamboa S, Loera-Luna A, Aguirre BA, Pérez-Palacios G, Velázquez A. Neonatal screening for congenital hypothyroidism in Mexico: experience, obstacles, and strategies. J Med Screen. 1999;6:77–9.

    Article  CAS  PubMed  Google Scholar 

  16. Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res. 1997;48:51–61.

    Article  CAS  PubMed  Google Scholar 

  17. Walfish PG. Evaluation of three thyroid-function screening tests for detecting neonatal hypothyroidism. Lancet. 1976;1:1208–10.

    Article  CAS  PubMed  Google Scholar 

  18. Dussault JH, Morissette J, Letarte J, Guyda H, Laberge C. Modification of a screening program for neonatal hypothyroidism. J Pediatr. 1978;92:274–7.

    Article  CAS  PubMed  Google Scholar 

  19. Willi SM, Moshang T Jr. Diagnostic dilemmas. Results of screening tests for congenital hypothyroidism. Pediatr Clin North Am. 1991;38:555–66.

    Article  CAS  PubMed  Google Scholar 

  20. Fisher DA. Effectiveness of newborn screening programs for congenital hypothyroidism: prevalence of missed cases. Pediatr Clin North Am. 1987;34:881–90.

    Article  CAS  PubMed  Google Scholar 

  21. Kempers MJ, Lanting CI, van Heijst AF, et al. Neonatal screening for congenital hypothyroidism based on thyroxine, thyrotropin, and thyroxine-binding globulin measurement: potentials and pitfalls. J Clin Endocrinol Metab. 2006;91:3370–6.

    Article  CAS  PubMed  Google Scholar 

  22. Léger J, Olivieri A, Donaldson M, et al; ESPE-PES-SLEP-JSPE-APEG-APPES-ISPAE; Congenital Hypothyroidism Consensus Conference Group. European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism. J Clin Endocrinol Metab. 2014;99:363–84.

  23. Ford G, LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab. 2014;28:175–87.

    Article  CAS  PubMed  Google Scholar 

  24. International Atomic Energy Agency (IAEA). Screening of newborns for congenital hypothyroidism-Guidance for developing programmes. Vienna, 2005.

  25. Corbetta C, Weber G, Cortinovis F, et al. A 7-year experience with low blood TSH cutoff levels for neonatal screening reveals an unsuspected frequency of congenital hypothyroidism (CH). Clin Endocrinol. 2009;71:739–45.

    Article  CAS  Google Scholar 

  26. Korada SM, Pearce M, Platt MPW, et al. Difficulties in selecting an appropriate neonatal thyroid stimulating hormone (TSH) screening threshold. Arch Dis Child. 2010;95:169–73.

    Article  PubMed  Google Scholar 

  27. Rose SR, Brown RS, Foley T, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117:2290–303.

    Article  PubMed  Google Scholar 

  28. Saleh DS, Lawrence S, Geraghty MT, et al. Prediction of congenital hypothyroidism based on initial screening thyroid stimulating hormone. BMC Pediatr. 2016;16:24.

    Article  PubMed  PubMed Central  Google Scholar 

  29. Lott JA, Sardovia-Iyer M, Speakman KS, Lee KK. Age-dependent cut off values in screening newborns for hypothyroidism. Clin Biochem. 2004;37:791–7.

    Article  CAS  PubMed  Google Scholar 

  30. Fisher DA. Disorders of the thyroid in the newborn and infant. In: Sperling MA, editor. Clinical Pediatric and Adolescent Endocrinology, 3rd ed. Philadelphia: Saunders; 2008. p. 214.

  31. Mutlu M, Karagüzel G, Alıyaziciolu Y, Eyüpolu I, Okten A, Aslan Y. Reference intervals for thyrotrophin and thyroid hormones and ultrasonographic thyroid volume during the neonatal period. J Matern Fetal Neonatal Med. 2012;25:120–4.

    Article  CAS  PubMed  Google Scholar 

  32. Pokrovska T, Jones J, Shaikh MG, Smith S, Donaldson MDC. How well does the capillary thyroid-stimulating hormone test for newborn thyroid screening predict the venous free thyroxine level? Arch Dis Child. 2016;101:539–45.

    Article  PubMed  PubMed Central  Google Scholar 

  33. Dimitropoulos A, Molinari L, Etter K, et al. Children with congenital hypothyroidism: long-term intellectual outcome after early high-dose treatment. Pediatr Res. 2009;65:242–8.

    Article  CAS  PubMed  Google Scholar 

  34. Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr. 2004;144:643–7.

    Article  PubMed  Google Scholar 

  35. Nair PS, Sobhakumar S, Kailas L. Diagnostic re-evaluation of children with congenital hypothyroidism. Indian Pediatr. 2010;47:757–60.

    Article  PubMed  Google Scholar 

  36. Slaughter JL, Meinzen-Derr J, Rose SR, et al. The effects of gestational age and birth weight on false-positive newborn-screening rates. Pediatrics. 2010;126:910–6.

    Article  PubMed  Google Scholar 

  37. LaFranchi S. Thyroid function in the preterm infant. Thyroid. 1999;9:71–80.

    Article  CAS  PubMed  Google Scholar 

  38. Hollanders JJ, Israëls J, Van der Pal SM, et al. No association between transient hypothyroxinemia of prematurity and neurodevelopmental outcome in young adulthood. J Clin Endocrinol Metab. 2015;100:4648–53.

    Article  CAS  PubMed  Google Scholar 

  39. Williams FL, Simpson J, Delahunty C, et al. Developmental trends in cord and postpartum serum thyroid hormones in preterm infants. J Clin Endocrinol Metab. 2004;89:5314–20.

    Article  CAS  PubMed  Google Scholar 

  40. Carrascosa A, Ruiz-Cuevas P, Potau N, et al. Thyroid function in seventy-five healthy preterm infants thirty to thirty-five weeks of gestational age: a prospective and longitudinal study during the first year of life. Thyroid. 2004;14:435–42.

    Article  PubMed  Google Scholar 

  41. Mandel SJ, Hermos RJ, Larson CA, Prigozhin AB, Rogas DA, Mitchell ML. Atypical hypothyroidism and the very low birth weight infant. Thyroid. 2000;10:693–5.

    Article  CAS  PubMed  Google Scholar 

  42. Woo HC, Lizarda A, Tucker R, et al. Congenital hypothyroidism with a delayed thyroid-stimulating hormone elevation in very premature infants: incidence and growth and developmental outcomes. J Pediatr. 2011;158:538–42.

    Article  CAS  PubMed  Google Scholar 

  43. Purdy IB, Singh N, Brown WL, Vangala S, Devaskar UP. Revisiting early hypothyroidism screening in infants with Down syndrome. J Perinatol. 2014;34:936–40.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  44. Tylek-Lemanska D, Kumorowicz-Kopiec M, Starzyk J. Screening for congenital hypothyroidism: the value of retesting after four weeks in neonates with low and very low birth weight. J Med Screen. 2005;12:166–9.

    Article  PubMed  Google Scholar 

  45. Krude H, Blankenstein O. Treating patients not numbers: the benefit and burden of lowering TSH newborn screening cut-offs. Arch Dis Child. 2011;96:121–2.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Pediatric Endocrinology, Bai Jerbai Wadia Hospital for Children, Institute of Child Health & Research Centre, Parel, Mumbai, India

    M. P. Desai & R. Parikh

  2. Division of Pediatric Endocrinology, Department of Pediatrics, All India Institute of Medical Sciences, Room no. 3058, Teaching Block, New Delhi, 110029, India

    R. Sharma

  3. Department of Pediatrics, SAT Hospital, Government Medical College, Thiruvananthapuram, India

    I. Riaz

  4. Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

    S. Sudhanshu & V. Bhatia

Authors
  1. M. P. Desai
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. R. Sharma
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. I. Riaz
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Sudhanshu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. R. Parikh
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. V. Bhatia
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

MD, RS, SS, RP, RI, VB reviewed the literature, drafted the manuscript, obtained extensive inputs from the editorial team, and finalised the manuscript incorporating these inputs. VB will act as the guarantor of the study.

Corresponding author

Correspondence to R. Sharma.

Ethics declarations

Conflict of Interest

None.

Additional information

Writing Committee: MP Desai, R Sharma, I Riaz, S Sudhanshu, R Parikh, V Bhatia

Editorial Committee: G Gupta, G Jevalikar, S Mathai, PSN Menon, P Raghupathy, S Rao, A Seth, A Simon, M Vijayakumar, A Virmani

Electronic supplementary material

ESM 1

(DOC 87.5 kb)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Desai, M.P., Sharma, R., Riaz, I. et al. Newborn Screening Guidelines for Congenital Hypothyroidism in India: Recommendations of the Indian Society for Pediatric and Adolescent Endocrinology (ISPAE) – Part I: Screening and Confirmation of Diagnosis. Indian J Pediatr 85, 440–447 (2018). https://doi.org/10.1007/s12098-017-2575-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12098-017-2575-y

Keywords

Search

Navigation