Antenatal Screening

Downs Syndrome Screening Tests Explained

Prior to having screening for Downs Syndrome, it is important that you have decided whether you would want further tests such as chorionic villus sampling (CVS) or amniocentesis, if the screening test is positive. However, agreeing to a screening test does not mean that you have decided to have a termination if a problem is found. Some couples simply prefer to know in order to be prepared, whilst others may choose to terminate their pregnancy. If a problem is found, you will be offered additional support and counselling by specialist midwives and doctors to be aware of all your options.

Downs syndrome is caused by an extra chromosome number 21, sometimes referred to as Trisomy 21, giving a total of 47 chromosomes. This is a genetic condition that occurs at conception. Babies with Downs Syndrome are at an increased risk of heart and bowel problems and learning disabilities. The overall risk increases for older mothers.

Further information for CVS and amniocentesis tests can be obtained from the Fetal Medicine Unit link on the Website.

Risk of Downs syndrome

Maternal Age Less than 20 years 20 years 30 years 40 years All ages / All pregnancies affected Incidence of Downs Syndrome Around 1:1600 Around 1:1500 Around 1:800 Around 1:100 1:800

First Trimester Combined Nuchal Translucency Screen for Downs Syndrome

This test involves an ultrasound scan to measure fluid that is under the skin at the back of the babys neck, between 11 and 14 weeks gestation. (If at the time of this scan, either you are found to be over 14 weeks pregnant or your baby is not lying in a good position, it may not be possible to measure nuchal translucency. If this happens, we will offer you quadruple screening for Downs Syndrome instead). A blood sample is also taken, two biochemistry markers are measured:

Pregnancy Associated Plasma Protein-A (PAPP-A) and Free Beta-Human Chorionic Gonadotrophin (Free B-HCG). The values of these three markers are used together with your age to estimate the risk of Downs Syndrome in your pregnancy.

This test detects around 80-90% of affected pregnancies. Please remember that the test will not give you a diagnosis for Downs Syndrome or completely exclude the condition.

Results of the Combined Screening Test

If the test shows that your risk of having a baby with Downs syndrome is lower than 1:150 (1:151 or less), then you will be low risk . Low risk does not mean NO risk at all.

If your risk for Downs Syndrome is 1:150 or greater (1:2 to 1:150), then you will be high risk.

If you have a high risk result you will be sent an appointment for a face to face discussion of your result with one of the Fetal Medicine Unit midwives. All screening tests and diagnostic tests are optional. The aim is for you to receive clear and concise information allowing you to make an informed choice.

Sometimes the risk for Downs Syndrome will be low, but one of the markers in the test is outside normal limits. If this occurs, we will offer you an appointment for a
2

scan with a consultant on the Fetal Medicine Unit. This does not necessarily mean that your baby has a problem.

Second Trimester Quadruple Screen for Downs Syndrome

This test involves a blood test taken between 14 and 20 weeks gestation. Four biochemistry markers are measured in your blood: Free Beta-Human Chorionic Gonadotrophin (Free B-HCG), Alpha-fetoprotein (AFP), Unconjugated Oestriol (Ue3) and Inhibin A. The values of these three markers are used together with your age to estimate the risk of Downs Syndrome in your pregnancy.

This test detects around 80% of affected pregnancies. Please remember that the test will not give you a diagnosis for Downs Syndrome or completely exclude the condition.

Results of the Quadruple Screening Test

If the test shows that your risk of having a baby with Downs syndrome is lower than 1:200 (1:201 or less), then you will be low risk . Low risk does not mean NO risk at all.

If your risk for Downs Syndrome is 1:200 or greater (1:2 to 1:200), then you will be high risk.

If you have a high risk result you will be sent an appointment for a face to face discussion of your result with one of the Fetal Medicine Unit midwives. All screening tests and diagnostic tests are optional. The aim is for you to receive clear and concise information allowing you to make an informed choice.

Sometimes the risk for Downs Syndrome will be low, but one of the markers in the test is outside normal limits. If this occurs, we will offer you an appointment for a scan with a fetal medicine specialist. This does not necessarily mean that your baby has a problem.