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Neonatal screening for metabolic, endocrine, infectious, and genetic disorders. Current and future directions

A Larsson1

  • 1Department of Pediatrics, Karolinska Institute, Huddinge University Hospital, Stockholm, Sweden. agne.larsson@klinvet.ki.se

Clinics in Perinatology
|August 14, 2001
PubMed

Insights

Future neonatal screening will expand to cover more disorders and newborns globally. Congenital hypothyroidism (CH) and phenylketonuria (PKU) are top priorities, with CH screening expanding faster, especially in developing nations.

Area of Science:

  • Biomedical Science
  • Public Health
  • Genetics

Background:

  • Neonatal screening programs are crucial for early detection of congenital disorders.
  • Existing screening protocols face limitations in scope and global reach.

Purpose of the Study:

  • To project the future landscape of neonatal screening, including expanded disorder coverage and population reach.
  • To identify high-priority disorders and influencing factors for future screening initiatives.

Main Methods:

  • Analysis of current trends in neonatal screening.
  • Projection of future screening expansion based on technological advancements and disease prevalence.
  • Consideration of socioeconomic and ethical factors in guideline development.

Main Results:

  • Congenital hypothyroidism (CH) and phenylketonuria (PKU) are prioritized for future screening.
  • Screening for CH is expected to expand more rapidly than PKU, particularly in developing countries.
  • Screening for congenital adrenal hyperplasia (CAH) and cystic fibrosis (CF) will likely increase, contingent on gene therapy success.

Conclusions:

  • Future neonatal screening will be broader in scope and reach, driven by technological innovation and increased biomedical knowledge.
  • Societal factors like prevalence, economy, and ethics are critical for international guideline development.
  • Continued advancements in technologies like MS-MS, DNA techniques, and automation will facilitate the expansion of neonatal screening.

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