Do women know that prenatal testing detects fetuses with Down syndrome?

A M Jaques1, J L Halliday, R J Bell

  • 1Public Health Genetics, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia. alicejaques@mcri.edu.au

This questionnaire-based study in Victoria, Australia, examined the responses of pregnant women, aged 37 years and over, to a question about what they expected prenatal testing (screening and/or diagnosis) for birth defects to tell them about their pregnancy. Content analysis showed that, of the 432 tested women, 61.3% mentioned Down syndrome, chromosomal abnormalities or trisomies. Women undergoing both screening and diagnosis were more likely than those having one or other test to mention Down syndrome (adjusted OR = 1.6, P = 0.06), having adjusted for age, marital status, education, residence and parity. Similarly, those from an English-speaking background were more likely to mention Down syndrome, etc. compared to women from a non-English-speaking background (adjusted OR = 3.5, P < 0.001). Down syndrome, a fundamental piece of information about prenatal tests, was not mentioned in nearly 40% of women's responses. This suggests that pregnant women need clearer information about prenatal testing, including the conditions that might be detected.

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