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OP02.09: Early experience on the clinical utility of Non‐Invasive Fetal Trisomy (NIFTY) test by maternal plasma sequencing

Objectives: To describe any trends in the uptake of prenatal testing for Down syndrome in a public hospital after the introduction of massively parallel sequencing (MPS) in private and the characteristics of women who underwent the latter. Methods: The uptake of prenatal diagnostic invasive testing after a positive screening test for Down syndrome in one public hospital in 2011 was analysed. With the use of descriptive statistics and the Mann-Whitney test, the uptake rates were compared before and after the introduction of MPS in private in August 2011. The women who underwent the latter were invited to complete a questionnaire. Results: A total of 4842 Down syndrome screening test was performed in 2011. Compared to the first seven months in 2011, there was a significant increase in the total number of screening test (375.3 vs. 443.0; P = 0.013) and first trimester combined screening test (325 vs. 409; P = 0.001) performed per month in the subsequent five months. The percentages of a diagnostic invasive test after a positive screening test was decreased significantly from 93.7% to 79.4% (P = 0.018) while that of ‘doing nothing’remained similar (6.3% vs. 10.1%; P = 0.639). About 9.6% of screen positive women went to the private for a MPS. Of 25 women who underwent the MPS, 60.0% aged 35 or above, 68.0% were nulliparous, 64.0% received University or Tertiary education, and 80.0% were working women, and 88.0% regarded themselves knew MPS, mainly from their private obstetrician and web. They answered correctly in 76.8% of the five questions (based on the position statement on MPS released by the ISPD in 2011). In their future pregnancies, 36.0% and 84.0% of them would opt for MPS directly and after a positive screening test respectively. Conclusions: The percentages of a diagnostic invasive test after a positive screening test was decreased mildly in a public hospital recently, probably related to the uptake of MPS in private by a small proportion of women who were willing to pay to reduce an invasive test.