Changing attitudes towards termination of pregnancy for trisomy 21 with non‐invasive prenatal trisomy testing: a population‐based study in Dutch pregnant women

The aim of providing testing for chromosomal conditions is enabling reproductive choice with respect to carrying to term, or terminating the pregnancy of a child with a serious disorder or disability. Except for a few countries such as Denmark and Hong Kong, the uptake of screening for fetal trisomy is relatively low, ranging from 25% (The Netherlands) to around 50% in many other Western countries. Reasons for refraining from screening include a number of perceived disadvantages of current screening programs, of which the risk of iatrogenic miscarriage associated with follow-up testing with invasive diagnostic procedures (0.5 to 1%) is an often reported one. At present, the vast majority of women confronted with a confirmed diagnosis of fetal trisomy request termination of pregnancy (TOP). In the Netherlands, 93% of women receiving the diagnosis fetal T21 terminate the pregnancy (according to the 2010 annual report on prenatal diagnosis), which is similar to published European data. A recently published systematic review presented evidence of decreasing termination rates in the USA (67%), which was speculated to be associated with progress in the medical management of Down syndrome children. Another study underlines women’s strong preference for tests with no risk of miscarriage demonstrating that consideration for safety of the fetus is paramount in decision making. With the newly developed non-invasive prenatal testing (NIPT) approach using cell-free fetal DNA obtained from maternal plasma, decision-making in prenatal screening is likely to change. Both the sensitivity and specificity of NIPT exceed 99%. However, ethical debates revolve around the issue of a possible consequence of this increased testing rate: ‘Will the world be without children with Down syndrome in a few years?’ There is also concern that increased testing with likely reduced numbers of live-born children with T21 may lead to a reduction in scientific progress, and funding, aiming for treatment of children with Down syndrome. We sought to evaluate whether and how the assumed increased rate of detection with the introduction of NIPT would influence the rate of TOP for affected pregnancies. This informationmay aid in the planning of new screening strategies. In two hospitals and nine community midwife practices, selfcomplete questionnaires were administered to pregnant women shortly after women received counseling for first trimester combined test (FCT) by their own midwife or doctor between 1 August 2011 and 31 December 2011. All women received information about prenatal screening for trisomies following the current guidelines. Questionnaires were given to all women, independent from their expressed interest in prenatal screening. All questionnaires were handled anonymously. The questionnaire addressed questions regarding prenatal screening in the current pregnancy and regarding NIPT if available. Background information about NIPT was included prior to questions to determine the attitude of women towards NIPT. Participating women were asked to indicate the likelihood that they would choose the option of terminating their pregnancy should their fetus be diagnosedwith Down syndrome based on a visual analog scale (VAS). The VAS is a graphic tool with a 100mm horizontal line with the left end marked as ‘very uncertain’ and the right endmarked as ‘very certain’. The subject is asked to mark the point that is corresponding most with their feeling about the subject questioned. The last part of the questionnaire included sociodemographic questions (age, educational level, religion, and income). The Dutch legislation does not require informed consent for a prospective study using questionnaires when results are treated anonymously. Data were analyzed using SPSS version 17. Completed questionnaires were received from 147 (43%) of the 340 women who were sent a questionnaire. In this group of responders, 79/147 (54%) opted for FCT in their current pregnancy; 82% (121/147) of the women answered they would elect to undergo NIPT if it were available. There were no