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Maternal blood test is more effective than standard screening for Down’s syndrome, study shows

BMJ 2015; 350 doi: (Published 02 April 2015) Cite this as: BMJ 2015;350:h1797
  1. Susan Mayor
  1. 1London

Taking a blood sample from women at 10 to 14 weeks of pregnancy and analysing cell-free fetal DNA for an extra chromosome is more effective than standard non-invasive screening tests in diagnosing Down’s syndrome, a large multi-centre study has found.

The prospective study, reported in the New England Journal of Medicine,1 followed up pregnancy outcomes in nearly 16 000 women. The cell-free fetal DNA blood test correctly identified all 38 fetuses with Down’s syndrome, confirmed by examination of the newborn or by genetic analysis. This type of …

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