The future of newborn screening belongs to obstetricians

M. I. Evans, H. L. Levy

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

Abstract

Newborn screening has been a mainstay of genetic testing for several decades. Molecular biological techniques, pervasive in genetics and in medicine, are shifting the focus of such testing from enzymology to molecular diagnosis. Concomitant developments in the isolation of fetal cells from maternal blood enable molecular analysis to be performed not just postnatally, but in fact as early as the late first trimester. Potential advantages of first trimester prenatal diagnosis of those disorders currently performed postnatally include more reproductive options for couples, and, in selected cases, the fact that certain genetic disorders can be treated much earlier in development, thereby potentially ameliorating the sequelae of these disorders. Thus, the future of newborn screening will belong as much to the obstetrician as to the pediatrician, if not more so.

Original languageEnglish
Pages (from-to)55-57
Number of pages3
JournalActa Paediatrica, International Journal of Paediatrics, Supplement
Volume88
Issue number432
DOIs
StatePublished - 1999
Externally publishedYes

Keywords

  • Genetic screening
  • Prenatal care
  • Prenatal diagnosis

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