Editorials

Optimising prenatal diagnosis of Down's syndrome

BMJ 2006; 332 doi: https://doi.org/10.1136/bmj.332.7539.433 (Published 23 February 2006) Cite this as: BMJ 2006;332:433

This article has a correction. Please see:

  1. James P Neilson, professor of obstetrics and gynaecology (jneilson@liv.ac.uk),
  2. Zarko Alfirevic, professor of fetal and maternal medicine
  1. School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS
  2. School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS

    Prospective parents, if properly counselled, may want to pay for full fetal karyotyping

    T he portfolio of serum tests used to screen for Down's syndrome in the United Kingdom includes human chorionic gonadotrophin (hCG), unconjugated oestriol (uE3), plasma protein A (PAPP-A), and dimeric inhibin A. ADAM12, a novel serum marker with biological properties similar to PAPP-A, shows promise.1

    Combining ultrasonography with serum screening improves performance. Nuchal translucency measurement is now well established,2 but it is difficult to implement as a population based screening programme because of a shortage of adequately trained sonographers and problems with quality assurance. Additional first trimester ultrasound markers for Down's syndrome—absent nasal bone, abnormal ductus venosus flow velocities, and tricuspid regurgitation—are under evaluation (table).

    View this table:

    Screening tests for Down's syndrome

    Screening tests can be packaged in different ways to include multiple biochemical tests, ultrasound plus biochemistry, or combined …

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