Cell-free DNA. Comparison of Technologies

Pe'er Dar, Hagit Shani, Mark I. Evans

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Cell-free fetal DNA screening for Down syndrome has gained rapid acceptance over the past few years with increasing market penetration. Three main laboratory methodologies are currently used: a massive parallel shotgun sequencing (MPSS), a targeted massive parallel sequencing (t-MPS) and a single nucleotide polymorphism (SNP) based approach. Although each of these technologies has its own advantages and disadvantages, the performance of all was shown to be comparable and superior to that of traditional first-trimester screening for the detection of trisomy 21 in a routine prenatal population. Differences in performance were predominantly shown for chromosomal anomalies other than trisomy 21. Understanding the limitations and benefits of each technology is essential for proper counseling to patients. These technologies, as well as few investigational technologies described in this review, carry a great potential beyond screening for the common aneuploidies.

Original languageEnglish (US)
JournalClinics in Laboratory Medicine
DOIs
StateAccepted/In press - 2016

Fingerprint

Down Syndrome
Technology
Screening
DNA
Firearms
Aneuploidy
First Pregnancy Trimester
Polymorphism
Single Nucleotide Polymorphism
Counseling
Nucleotides
Population

Keywords

  • Cell-free fetal DNA
  • DNA methylation
  • Multiple parallel shotgun sequencing
  • Next-generation sequencing
  • Noninvasive prenatal screening
  • Selected probes
  • Selective sequencing
  • Single nucleotide polymorphisms

ASJC Scopus subject areas

  • Biochemistry, medical
  • Clinical Biochemistry

Cite this

Cell-free DNA. Comparison of Technologies. / Dar, Pe'er; Shani, Hagit; Evans, Mark I.

In: Clinics in Laboratory Medicine, 2016.

Research output: Contribution to journalArticle

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