Abstract
BackgroundImplementation of noninvasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down syndrome (DS).AimThe aim of the study was to investigate the impact of NIPT on termination and live birth rates for DS.MethodsLiterature reporting pregnancy outcomes following NIPT was reviewed. Termination rates were calculated for women with a high‐risk NIPT result for DS. Two audits of pregnancy outcomes where NIPT indicated DS were conducted in the United Kingdom and Singapore.ResultsFourteen studies from the United States, Asia, Europe, and the United Kingdom were included in the review. Live births of children with DS were reported in 8 studies. Termination rates following NIPT were unchanged or decreased when compared to termination rates prior to the introduction of NIPT. Audits found 15 of 43 women in the United Kingdom and 2 of 6 in Singapore continued pregnancies following a high‐risk NIPT result.ConclusionsTermination rates following the detection of DS by NIPT are unchanged or decreased compared to historical termination rates. Impact on live birth rates may be minimal in settings where termination rates fall. Population‐based studies are required to determine the true impact.
Highlights
Termination rates following the detection of Down syndrome (DS) by Noninvasive prenatal testing (NIPT) are unchanged or decreased compared to historical termination rates
Noninvasive prenatal testing (NIPT) for aneuploidy based on analysis of cell‐free DNA in the maternal plasma became available in the private sector in 2011 and is being offered widely throughout the world.[1]
Numbers are relatively small, when we look at the data as a whole our findings suggest that the high uptake of NIPT worldwide includes many women who would like additional information about their baby that will not necessarily be used for decision making about termination of pregnancy
Summary
Noninvasive prenatal testing (NIPT) for aneuploidy based on analysis of cell‐free DNA (cfDNA) in the maternal plasma became available in the private sector in 2011 and is being offered widely throughout the world.[1]. Implementation of noninvasive prenatal testing (NIPT) as a highly accurate aneuploidy screening test has raised questions around whether the high uptake may result in more terminations of pregnancies and fewer births of children with Down syndrome (DS)
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