BMJ  2006;332:433-434 (25 February), doi:10.1136/bmj.332.7539.433

Editorial

Optimising prenatal diagnosis of Down's syndrome

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

The first 150 words of the full text of this article appear below.

The 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: [in this window] [in a new window]   Screening tests for Down's syndrome

 

Screening tests can be packaged in different ways to include multiple biochemical tests, ultrasound plus biochemistry, or combined first and second trimester strategies.³ Combined strategies include "integrated screening"—with calculation of risk delayed until after the second stage of . . . [Full text of this article]

School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS
(jneilson@liv.ac.uk)

School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS

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