First-trimester screening for chromosomal abnormalities: advantages of an instant results approach

Clin Lab Med. 2010 Sep;30(3):565-71. doi: 10.1016/j.cll.2010.04.015. Epub 2010 Jun 15.

Abstract

Protocols that include first trimester screening for fetal chromosome abnormalities have become standard of care throughout the United States. Earlier screening allows for first trimester diagnostic testing in cases found to be at increased risk. However, first trimester screening requires coordination of the nuchal translucency ultrasound screening (NT) and biochemical screening, during early, specific, narrow, but slightly different gestational age ranges. Instant results can often be provided at the time of the NT ultrasound if preceded by the programs that perform the biochemical analyses; this optimizes the benefits of the first trimester approach while improving efficiency and communication with the patient. This article discusses the benefits and logistics of such an approach.

Publication types

  • Review

MeSH terms

  • Chromosome Aberrations
  • Early Diagnosis*
  • Female
  • Genetic Diseases, Inborn / diagnosis*
  • Genetic Diseases, Inborn / genetics
  • Genetic Testing*
  • Humans
  • Mass Screening
  • Pregnancy
  • Pregnancy Trimester, First*
  • Prenatal Diagnosis*