Non-invasive, serum DNA pregnancy testing leading to incidental discovery of cancer

A good thing?

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Cell-free DNA for perinatal screening is a growing industry. Non-invasive prenatal testing (NIPT) is based on the premise that foetal DNA is able to cross the placental barrier and enter the mother's circulation, where it can be examined for chromosomal abnormalities, such as trisomy 13, 18 or 21. Such tests are expected to be widely used by pregnant women, with the annual market expected to surpass $1 billion. Recently, a number of case reports have emerged in the haematology-oncology literature. The routine use of NIPT has led to the discovery of maternal neoplasms. Most writers have concluded that this is yet another benefit of the test; however, a closer examination of the cases reveals that this incidental detection may not improve patient outcomes. In some cases, early detection provides lead time bias, but does not change the ultimate clinical outcome, and in other cases, detection constitutes earlier knowledge of a cancer whose natural history cannot be altered. Here, we explore in detail cases where cancer was incidentally discovered among women undergoing routine non-invasive pregnancy testing, and investigate whether or not these women were benefitted by the discovery.

Original languageEnglish (US)
Pages (from-to)2272-2274
Number of pages3
JournalEuropean Journal of Cancer
Volume51
Issue number16
DOIs
StatePublished - Nov 1 2015
Externally publishedYes

Fingerprint

Incidental Findings
Pregnancy
DNA
Serum
Mothers
Neoplasms
Hematology
Down Syndrome
Natural History
Chromosome Aberrations
Pregnant Women
Industry

Keywords

  • Genetic testing
  • Lead-time bias
  • Non-invasive pregnancy tests
  • Overdiagnosis
  • Unintended consequences

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Non-invasive, serum DNA pregnancy testing leading to incidental discovery of cancer : A good thing? / Prasad, Vinay.

In: European Journal of Cancer, Vol. 51, No. 16, 01.11.2015, p. 2272-2274.

Research output: Contribution to journalArticle

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