Next generation of carrier screening

Anastasia Fedick, Jinglan Zhang

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review


Preconception or prenatal carrier screening is an effective approach for preventing devastating recessive diseases. Traditionally, DNA-based carrier testing used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in order to increase test sensitivity for pan-ethnic individuals. Important issues regarding NGS-based carrier screening panels' workflow design, variant interpretation, reporting, and genetic counseling follow-ups are reviewed and discussed in this chapter.

Original languageEnglish
Title of host publicationNext Generation Sequencing Based Clinical Molecular Diagnosis of Human Genetic Disorders
PublisherSpringer International Publishing
Number of pages16
ISBN (Electronic)9783319564180
ISBN (Print)9783319564166
StatePublished - 15 May 2017


  • Carrier screening
  • Next generation sequencing


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