Down's syndrome
The UK NSC policy on Down's syndrome screening in pregnancy
More Information
Down's syndrome (or 'Down syndrome'), a chromosomal disorder, occurs when, instead of the normal complement of two copies of chromosome 21, there is a whole, or sometimes part of an, additional chromosome 21.
Chromosome abnormalities give rise to specific physical features seen in Down's syndrome. The range of cognitive disabilities as well as other attributes is enormously wide in Down's syndrome. The majority are in the mild range of cognitive ability. Associated defects may include ear and/or eye defects, an increased propensity for infections and heart defects.
» Read more about Down's syndrome on the Contact a Family website
Policy Position
Screening should be offered to all pregnant women.
The only substantial change made during the 2011 review was that the cut off threshold for all strategies at all stages of pregnancy has been agreed to be set at 1 in 150 at term and this must be implemented from the 1 October 2011.
This policy was reviewed in Mar 2011 but no significant changes were made. It is due to be considered again in 2013/14, or earlier if significant new evidence emerges.
Screening in the UK
Compare how screening is offered across the UK.
Evidence Supporting the Policy
Health Technology Assessment 2003, vol 7, no. 11: First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS) - this identified the most effective, safe and cost-effective method of antenatal screening for Down's syndrome.
National Collaborating Centre for Women’s and Children’s Health. Commissioned by the National Institute for Health and Clinical Excellence. Antenatal care: routine care for the healthy pregnant woman. CG62: full guidance. March 2008 (corrected June 2008).
See p154 (in Chapter 9 Screening for fetal anomalies) for the section on Down's Syndrome.
Stakeholders
Down Syndrome Research Foundation UK
Down's Syndrome Association
Down's syndrome Medical Interest Group
Royal College of General Practitioners
Royal College of Midwives
Royal College of Obstetricians and Gynaecologists
The stakeholder groups will be involved when the policy is next reviewed. If you think your organisation should be added, please contact us.