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).
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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
James P Neilson, professor of obstetrics and gynaecology
School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS
(jneilson@liv.ac.uk)
Zarko Alfirevic, professor of fetal and maternal medicine
School of Reproductive and Developmental Medicine, University of Liverpool, Liverpool Women's Hospital, Liverpool L8 7SS
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- Optimising prenatal diagnosis of Down's syndrome - full karyotyping contra-indicated for women referred solely for risk of Down's syndrome.
- Caroline Ogilvie, et al.
bmj.com, 2 Mar 2006 [Full text] - Re: Optimising prenatal diagnosis of Down's syndrome - full karyotyping contra-indicated for women referred solely for risk of Down's syndrome.
- Jim Neilson, et al.
bmj.com, 3 Mar 2006 [Full text] - Risk-free prenatal diagnosis of Down's syndrome
- Maj A Hulten, et al.
bmj.com, 9 Feb 2007 [Full text]
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Rapid responses for this article
- Optimising prenatal diagnosis of Down's syndrome - full karyotyping contra-indicated for women referred solely for risk of Down's syndrome. Caroline Ogilvie, et al.
- Re: Optimising prenatal diagnosis of Down's syndrome - full karyotyping contra-indicated for women referred solely for risk of Down's syndrome. Jim Neilson, et al.
- Risk-free prenatal diagnosis of Down's syndrome Maj A Hulten, et al.
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