Change in client choice under multiple prenatal genetic testing options including noninvasive prenatal testing (NIPT) after genetic counseling in a Japanese maternity hospital

Abstract

ObjectiveThis study examined how clients' selection and preference for noninvasive prenatal testing (NIPT) for aneuploidy changed with genetic counseling (GC) performed by certified geneticists at a primary hospital specializing in obstetrics, where other multiple prenatal genetic tests options were available.MethodsA total of 334 couples who underwent GC between 2017 and 2019 were included in the study. The average age of the pregnant women who underwent GC was 35.1 years.ResultsAmong the 95 couples (28.4%) who wanted NIPT at the start of GC, 10 (10.5%) switched to other tests, and 4 (4.2%) chose not to undergo any test. Among the 106 (31.7%) couples who wanted the combination of ultrasonography and the serum marker test, 12 (11.3%) chose not to undergo the test. Among the 92 (27.5%) couples who were undecided before GC, 21 (22.8%) wanted NIPT, 31 (33.7%) selected combined tests, and 18 (19.6%) did not undergo any test.ConclusionWe have demonstrated the significance of GC before prenatal genetic testing under widespread use of NIPT. Ideally, obstetric facilities should provide GC, or at least, pre‐counseling at their own facilities, and offer multiple prenatal genetic testing options or refer to other facilities for the same.

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21

“…27 The data gathered from this study as well as from studies in other countries clearly indicate that appropriate counseling is the key to achieving high levels of informed test-choice decisions rather than the test itself. [27][28][29][30][31][32][33] Another initial fear was that the introduction of NIPT would result in a drastic decrease in the livebirth prevalence of Down syndrome. A register study of the period 2014-2018, which included the start of NIPT as a first-tier test in 2017, concluded this was not the case.…”