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Related Experiment Video

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Biochemical Measurement of Neonatal Hypoxia
13:13

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Thyroid function testing in neonates born to women with hypothyroidism.

Matthew McGovern1, Zahra Reyani2, Pamela O'Connor2

  • 1Coombe Women and Infants University Hospital, Dublin, Ireland. mattt111000@gmail.com.

European Journal of Pediatrics
|October 16, 2016
PubMed
Summary

Routine thyroid function testing at 10-14 days of life is not necessary for diagnosing congenital hypothyroidism (CH) in infants born to mothers with hypothyroidism. Existing newborn screening programs effectively detect CH, making additional testing redundant.

Keywords:
Congenital hypothyroidismInfantNeonatal screeningNewbornRisk factorsThyroid function tests

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Area of Science:

  • Neonatology
  • Endocrinology
  • Pediatrics

Background:

  • Congenital hypothyroidism (CH) is a leading preventable cause of intellectual disability in children.
  • Maternal hypothyroidism is a known risk factor for CH in newborns.
  • Newborn screening for CH has been standard practice since the 1970s.

Purpose of the Study:

  • To evaluate the effectiveness of serum thyroxine and thyroid-stimulating hormone testing at 10-14 days of life for diagnosing CH in infants of mothers with hypothyroidism.
  • To determine if this additional testing improves diagnostic yield compared to standard newborn screening.

Main Methods:

  • Retrospective analysis of infants born over 12 months at a tertiary referral center.
  • Inclusion criteria: infants with maternal hypothyroidism requiring thyroid function testing (TFT) at 10-14 days.
  • Data collected: newborn bloodspot results, day 10-14 TFT results, and treatment status.

Main Results:

  • Out of 319 infants studied, only two were diagnosed with CH.
  • Both confirmed CH cases had abnormal newborn bloodspot tests.
  • No additional CH cases were identified by the 10-14 day TFT.

Conclusions:

  • Thyroid function testing at 10-14 days of life does not enhance the detection of CH in infants born to mothers with hypothyroidism.
  • This practice should be discontinued due to the reliability of established newborn screening programs.
  • Newborn bloodspot testing remains the primary method for accurate and timely CH diagnosis.