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What is the real “price” of more prenatal screening and fewer diagnostic procedures? Costs and trade‐offs in the genomic era
Author(s) -
Hui Lisa,
Norton Mary
Publication year - 2018
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5228
Subject(s) - presumption , diagnostic test , prenatal diagnosis , medicine , cell free fetal dna , genetic testing , certainty , test (biology) , full disclosure , prenatal screening , intensive care medicine , pediatrics , pregnancy , fetus , computer science , genetics , biology , computer security , paleontology , philosophy , epistemology , political science , law
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.