Non-invasive prenatal testing is increasingly available worldwide and stakeholder viewpoints are essential to guide implementation. Here we compare the preferences of women and health professionals from nine different countries towards attributes of non-invasive and invasive prenatal tests for Down syndrome. A discrete choice experiment was used to obtain participants' stated preference for prenatal tests that varied according to four attributes: accuracy, time of test, risk of miscarriage, and type of information. Pregnant women and health professionals were recruited from Canada, Denmark, Iceland, Israel, Italy, the Netherlands, Portugal, Singapore, and the United Kingdom. A total of 2666 women's and 1245 health professionals' questionnaires were included in the analysis. Differences in preferences were seen between women and health professionals within and between countries. Overall, women placed greater emphasis on test safety and comprehensive information than health professionals, who emphasised accuracy and early testing. Differences between women's and health professionals' preferences are marked between countries. Varied approaches to implementation and service delivery are therefore needed and individual countries should develop guidelines appropriate for their own social and screening contexts.
INTRODUCTIONMany countries have established prenatal screening programmes for Down syndrome (DS), where an initial screening test is followed by the offer of an invasive diagnostic test for women with a 'high risk' result to allow definitive diagnosis. Non-invasive prenatal testing (NIPT), which analyses cell-free DNA in maternal plasma, is rapidly transforming prenatal testing for DS worldwide. 1 NIPT can be used from 10 weeks in pregnancy to screen for DS with high sensitivity (99.3%) and specificity (99.8%) and can detect other common chromosomal aneuploidies (Trisomy 18, Trisomy 13, and Monosomy X). 2,3 NIPT allows screening for these conditions with much greater specificity than traditional DS screening (DSS) 4 and thereby significantly reduces the need for invasive testing (chorionic villus sampling or amniocentesis) with the associated small miscarriage risk. 5
The ZIC3 gene encodes a zinc finger protein which functions as a transcription factor in early stages of left-right body axis formation. Mutations in this X-linked gene cause a variety of clinical manifestations including heterotaxy, complex or isolated heart defect as well as other midline urogenital and hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at Xq26.3. The index fetus of our proband showed classical features of heterotaxy while her maternal uncle and one brother had imperforate anus and her other brother had features suggestive of VACTERL-H without heterotaxy. A 1.4 Mb deletion in Xq26.3 including the ZIC3 gene was found in the fetus. Six females in the family were found to be asymptomatic carriers. Our report indicates that some of the cases with VACTERL-H syndrome may be caused by a mutation or deletion of the ZIC3 gene.
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