Objective: To assess the reasons and perceptions of women who are offered a choice between karyotyping and standalone rapid aneuploidy detection (RAD) and to compare the impact of both tests on anxiety and health-related quality of life. Methods: In this prospective comparative study, women undergoing amniocentesis on behalf of their age or for an increased Down syndrome risk were offered a choice between karyotyping (group 1, n = 68) and standalone RAD (group 2, n = 61). Follow-up was 9 weeks post amniocentesis. Results: The most commonly cited reason for choosing karyotyping was obtaining as much information as possible, while for choosing standalone RAD, it was the short waiting time. Prenatal screening (OR 7.09), no knowledge of karyotyping (OR 4.2), and an intermediate perceived risk for chromosomal abnormalities (OR 3.6) were associated with choosing standalone RAD. There were no systematic differences in time of karyotyping and standalone RAD in terms of anxiety (P = 0.11), generic physical and mental health (P = 0.94, 0.52; P = 0.66, 0.07), personal perceived control (PPC; P = 0.69), and stress (P = 0.66). Conclusion: Offering a choice between karyotyping and standalone RAD does not influence anxiety, stress, PPC, or generic health. Individual choice in prenatal diagnosis meets individual needs and thereby could reduce anxiety and stress.

Down syndrome, Karyotype, Prenatal diagnosis, Quality of life, Rapid aneuploidy detection, aberration, adult, amniocentesis, analytic method, aneuploidy, anxiety, article, chromosome, comparative study, detection, female, fetus, human, intermethod comparison, karyotyping, major clinical study, prenatal diagnosis, prenatal screening, priority journal, quality of life, rapid aneuploidy, stress
dx.doi.org/10.1002/pd.2585, hdl.handle.net/1765/21300
Prenatal Diagnosis
Erasmus MC: University Medical Center Rotterdam

Boormans, E.M.A, Birnie, E, Oepkes, D, Boekkooi, P.F, Bonsel, G.J, & van Lith, J.M.M. (2010). Individualized choice in prenatal diagnosis: The impact of karyotyping and standalone rapid aneuploidy detection on quality of life. Prenatal Diagnosis, 30(10), 928–936. doi:10.1002/pd.2585