What is the real "price" of more prenatal screening and fewer diagnostic procedures? Costs and trade‐offs in the genomic era. (21st February 2018)

• Record Type: Journal Article
• Authors: Hui, Lisa; Norton, Mary
• Is Part Of: Prenatal diagnosis. Volume 38:Number 4(2018)
• Page Start: 246
• Page End: 249
• Publication Date: 2018-02-21
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.5228
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Any screening approach, including with cell‐free DNA, will have an inferior detection rate compared with 100% diagnostic testing with chromosomal microarrays. Cell‐free DNA‐based screening, however, should not be seen as a threat to informed choice or maximising the benefits of diagnostic testing. Screening methods have become so much better that more women are now comfortable relying on such screening and do not need the certainty of a diagnostic test. This has not lead to a decline in detection of fetal chromosome abnormalities—in fact, we are now seeing historically high yields from prenatal screening. There are both economic and ethical consequences of offering universal diagnostic testing and abandoning the presumption of a normal infant in otherwise uncomplicated pregnancies. However, for some women, comprehensive information and diagnostic accuracy are important. Offering these women all options, with a careful and comprehensive explanation of the risks and benefits of each, results in outcomes that are best aligned with woman's preferences while at the same time requiring fewer diagnostic tests and lowering costs. It is one of the primary challenges of the modern era of prenatal testing to ensure that women receive sufficient information on which to make informed decisions. Abstract : What's already known about this topic? Prenatal diagnostic testing has been declining for over 20 years, and this trend has been exacerbated by the recent introduction of cell‐free DNA‐based (cfDNA) screening. At the same time, the diagnostic capacity of prenatal testing has increased with the development of chromosomal microarrays. The risk of a pathogenic copy number variant in the general population is considered sufficiently high by some opinion leaders to consider offering prenatal diagnosis to all women. What does this study add? cfDNA screening should be not seen as a threat to informed choice and the diagnostic yield of prenatal testing. The detection of major chromosome abnormalities has increased, rather than decreased, since the introduction of cfDNA screening and chromosomal microarrays. Cost‐utility analyses that include patient preferences show higher utility for a traditional screening approach than for universal diagnostic testing. Ensuring that all women receive adequate information about their options is one of the primary challenges in prenatal testing.