Advertisement

The Indian Journal of Pediatrics

, Volume 85, Issue 6, pp 440–447 | Cite as

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

  • M. P. Desai
  • R. Sharma
  • I. Riaz
  • S. Sudhanshu
  • R. Parikh
  • V. Bhatia
Review Article
  • 339 Downloads

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.

Keywords

Clinical practice guidelines Cord blood Dried blood spot Newborn thyroid screening 

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

Notes

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.

Compliance with Ethical Standards

Conflict of Interest

None.

Supplementary material

12098_2017_2575_MOESM1_ESM.doc (88 kb)
ESM 1 (DOC 87.5 kb)

References

  1. 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.CrossRefPubMedGoogle Scholar
  2. 2.
    LaFranchi SH. Newborn screening strategies for congenital hypothyroidism: an update. J Inherit Metab Dis. 2010;33:S225–33.CrossRefPubMedGoogle Scholar
  3. 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.CrossRefPubMedGoogle Scholar
  4. 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.Google Scholar
  5. 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.CrossRefPubMedGoogle Scholar
  6. 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.CrossRefPubMedGoogle Scholar
  7. 7.
    Colaco MP, Desai MP, Ajgaonkar AR, et al. Neonatal screening for hypothyroidism. Indian Pediatr. 1984;21:695–700.PubMedGoogle Scholar
  8. 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.PubMedGoogle Scholar
  9. 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.CrossRefPubMedGoogle Scholar
  10. 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.Google Scholar
  11. 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.Google Scholar
  12. 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. 13.
    Fisher DA, Klein AH. Thyroid development and disorders of thyroid function in the newborn. N Engl J Med. 1981;304:702–12.CrossRefPubMedGoogle Scholar
  14. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  15. 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.CrossRefPubMedGoogle Scholar
  16. 16.
    Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res. 1997;48:51–61.CrossRefPubMedGoogle Scholar
  17. 17.
    Walfish PG. Evaluation of three thyroid-function screening tests for detecting neonatal hypothyroidism. Lancet. 1976;1:1208–10.CrossRefPubMedGoogle Scholar
  18. 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.CrossRefPubMedGoogle Scholar
  19. 19.
    Willi SM, Moshang T Jr. Diagnostic dilemmas. Results of screening tests for congenital hypothyroidism. Pediatr Clin North Am. 1991;38:555–66.CrossRefPubMedGoogle Scholar
  20. 20.
    Fisher DA. Effectiveness of newborn screening programs for congenital hypothyroidism: prevalence of missed cases. Pediatr Clin North Am. 1987;34:881–90.CrossRefPubMedGoogle Scholar
  21. 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.CrossRefPubMedGoogle Scholar
  22. 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.Google Scholar
  23. 23.
    Ford G, LaFranchi SH. Screening for congenital hypothyroidism: a worldwide view of strategies. Best Pract Res Clin Endocrinol Metab. 2014;28:175–87.CrossRefPubMedGoogle Scholar
  24. 24.
    International Atomic Energy Agency (IAEA). Screening of newborns for congenital hypothyroidism-Guidance for developing programmes. Vienna, 2005.Google Scholar
  25. 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.CrossRefGoogle Scholar
  26. 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.CrossRefPubMedGoogle Scholar
  27. 27.
    Rose SR, Brown RS, Foley T, et al. Update of newborn screening and therapy for congenital hypothyroidism. Pediatrics. 2006;117:2290–303.CrossRefPubMedGoogle Scholar
  28. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  29. 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.CrossRefPubMedGoogle Scholar
  30. 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.Google Scholar
  31. 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.CrossRefPubMedGoogle Scholar
  32. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  33. 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.CrossRefPubMedGoogle Scholar
  34. 34.
    Eugster EA, LeMay D, Zerin JM, Pescovitz OH. Definitive diagnosis in children with congenital hypothyroidism. J Pediatr. 2004;144:643–7.CrossRefPubMedGoogle Scholar
  35. 35.
    Nair PS, Sobhakumar S, Kailas L. Diagnostic re-evaluation of children with congenital hypothyroidism. Indian Pediatr. 2010;47:757–60.CrossRefPubMedGoogle Scholar
  36. 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.CrossRefPubMedGoogle Scholar
  37. 37.
    LaFranchi S. Thyroid function in the preterm infant. Thyroid. 1999;9:71–80.CrossRefPubMedGoogle Scholar
  38. 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.CrossRefPubMedGoogle Scholar
  39. 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.CrossRefPubMedGoogle Scholar
  40. 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.CrossRefPubMedGoogle Scholar
  41. 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.CrossRefPubMedGoogle Scholar
  42. 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.CrossRefPubMedGoogle Scholar
  43. 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.CrossRefPubMedPubMedCentralGoogle Scholar
  44. 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.CrossRefPubMedGoogle Scholar
  45. 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.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • M. P. Desai
    • 1
  • R. Sharma
    • 2
  • I. Riaz
    • 3
  • S. Sudhanshu
    • 4
  • R. Parikh
    • 1
  • V. Bhatia
    • 4
  1. 1.Division of Pediatric Endocrinology, Bai Jerbai Wadia Hospital for ChildrenInstitute of Child Health & Research CentreMumbaiIndia
  2. 2.Division of Pediatric Endocrinology, Department of PediatricsAll India Institute of Medical SciencesNew DelhiIndia
  3. 3.Department of Pediatrics, SAT HospitalGovernment Medical CollegeThiruvananthapuramIndia
  4. 4.Department of EndocrinologySanjay Gandhi Postgraduate Institute of Medical SciencesLucknowIndia

Personalised recommendations