An Overview on Prenatal Screening for Chromosomal Aberrations

J Lab Autom. 2015 Oct;20(5):562-73. doi: 10.1177/2211068214564595. Epub 2015 Jan 13.


This article is a review of current and emerging methods used for prenatal detection of chromosomal aneuploidies. Chromosomal anomalies in the developing fetus can occur in any pregnancy and lead to death prior to or shortly after birth or to costly lifelong disabilities. Early detection of fetal chromosomal aneuploidies, an atypical number of certain chromosomes, can help parents evaluate their pregnancy options. Current diagnostic methods include maternal serum sampling or nuchal translucency testing, which are minimally invasive diagnostics, but lack sensitivity and specificity. The gold standard, karyotyping, requires amniocentesis or chorionic villus sampling, which are highly invasive and can cause abortions. In addition, many of these methods have long turnaround times, which can cause anxiety in mothers. Next-generation sequencing of fetal DNA in maternal blood enables minimally invasive, sensitive, and reasonably rapid analysis of fetal chromosomal anomalies and can be of clinical utility to parents. This review covers traditional methods and next-generation sequencing techniques for diagnosing aneuploidies in terms of clinical utility, technological characteristics, and market potential.

Keywords: Down syndrome; aneuploidy; chromosomes; next-generation sequencing; screening; trisomy.

Publication types

  • Review

MeSH terms

  • Aneuploidy*
  • Automation, Laboratory
  • Chromosome Aberrations / embryology*
  • Chromosome Disorders / blood
  • Chromosome Disorders / diagnosis*
  • Chromosome Disorders / embryology
  • DNA / blood
  • DNA / chemistry
  • Female
  • Genetic Testing* / trends
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Karyotyping / trends
  • Maternal Serum Screening Tests / adverse effects
  • Maternal Serum Screening Tests / trends
  • Maternal-Fetal Exchange
  • Pregnancy
  • Prenatal Diagnosis* / adverse effects
  • Prenatal Diagnosis* / trends
  • Sequence Analysis, DNA* / trends


  • DNA