Prenatal diagnosis and newborn screening

Lee P. Shulman*, Philip M. Farrell

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingChapter


This chapter provides a review of selected metabolic disorders resulting from genetic mutations and the diagnostic methods used to identify them prenatally or in the early neonatal period. Prenatal and neonatal diagnostic technologies have evolved gradually over four decades, but they are expanding and changing dramatically in the 21st century, as is their application in population-based screening and/or targeted assessment of at-risk couples. For instance, preimplantation genetic diagnosis has been a major advance. Emphasis herein has been placed on prototype diseases such as phenylketonuria, cystic fibrosis, and Tay- Sachs that have stimulated seminal efforts to improve medical practices in these fields. Future developments in prenatal screening and diagnosis, along newborn screening expansion, seem likely to continue rapid translation to the bedside because of extraordinary biotechnological advances.

Original languageEnglish (US)
Title of host publicationMetabolic Diseases
Subtitle of host publicationFoundations of Clinical Management, Genetics, and Pathology
PublisherIOS Press
Number of pages28
ISBN (Electronic)9781614997184
ISBN (Print)9781614997177
StatePublished - Jan 6 2017


  • Amniocentesis
  • Chorionic villus sampling
  • Cystic fibrosis
  • Phenylketonuria
  • Tandem mass spectrometry
  • Tay-Sachs disease

ASJC Scopus subject areas

  • Medicine(all)

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