Prenatal screening and diagnosis for pediatricians

Christopher Cunniff

Research output: Contribution to journalArticlepeer-review

29 Scopus citations


The pediatrician who cares for a child with a birth defect or genetic disorder may be in the best position to alert the family to the possibility of a recurrence of the same or similar problems in future offspring. The family may wish to know about and may benefit from methods that convert probability statements about recurrence risks into more precise knowledge about a specific abnormality in the fetus. The pediatrician also may be called on to discuss abnormal prenatal test results as a way of understanding the risks and complications that the newborn infant may face. Along with the increase in knowledge brought about by the sequencing of the human genome, there has been an increase in the technical capabilities for diagnosing many chromosome abnormalities, genetic disorders, and isolated birth defects in the prenatal period. The purpose of this report is to update the pediatrician about indications for prenatal diagnosis, current techniques used for prenatal diagnosis, and the status of maternal screenings for detection of fetal abnormalities.

Original languageEnglish (US)
Pages (from-to)889-894
Number of pages6
Issue number3
StatePublished - Sep 2004


  • Amniocentesis
  • Chorionic villi sampling
  • Chromosome aberrations
  • Genetic counseling
  • Genetic screening
  • Neural tube defects
  • Preimplantation diagnosis
  • Prenatal diagnosis
  • Prenatal ultrasonography
  • α-fetoproteins

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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