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Multi-marker screening tests

Genmark™  Combines 4 blood markers at 14-20 weeks and two ultrasound markers.

Addmark®  Combines 4 blood markers and 2 ultrasound markers at 9-13 weeks  If risk is borderline, 4 further markers tested after 14 weeks gestation and risk revised.

Tipmark  Our new test which does not involve a blood sample being taken by a professional.  Instead, a finger-tip kit is provided so blood drops can be obtained at home.  Two blood markers plus ultrasound substantially improves accuracy compared with ultrasound alone.

Risk Accuracy

Using our additional markers, more pregnancies with Down's syndrome are shown to have a high risk (i.e. 'detected) and overall fewer pregnancies are given a risk which is high (i.e. 'positive').

  Overall

  Test

  Week

  Detected*          

  Positive

  Genmark™

  9-13

  91%

  1.2%

 

  14-18

  80%

  2.7%

  Addmark®

  9-13

  93%

  0.6%

  Tipmark   9-13   90%   1.3%

*Also, Edwards' syndrome about 90% if 9-13 weeks; spina bifida  about 75% if 15-20 weeks.


 

Without NB or NBL*

  Test

  Week

  Detected

  Positive

  Genmark™

  9-13

  84%

  1.8%

 

  14-18

  76%

  3.0%

  Addmark®

  9-13

  89%

  1.1%

  Tipmark

  9-13

  84%

  1.9%

*Some scan centres do not determine nasal bone and occasionally the fetal position obscures it.  Detection is lower in these circumstances.

 Maternal Age

The above table gives overall rates for UK women.  Because the risk of Down's syndrome increases with maternal age, the percentage of Down's syndrome pregnancies with high risk and the percentage of pregnancies with high risk also increases. 

  

 

      Age 25  

 

     Age 30  

  Test

  Week

  Detected 

 Positive

 

 Detected

  Positive

  Genmark™

  9-13

  87%

  0.8%

 

  89%

  1.1%

 

  14-18

  70%

  1.5%

 

  74%

  2.3%

  Addmark®

  9-13

  92%

  0.4%

 

  92%

  0.6% 

  Tipmark

  9-13

  87%

  0.8%

 

  89%

  1.2%


 

   

Age 35

  Age 40

  Test

  Week

  Detected

  Positive  

  Detected

  Positive

  Genmark™

  9-13

  92%   2.2%   

  95%

  5.9%

 

  14-18

  82%   5.4%  

  91%

  16%

  Addmark®

  9-13

  93%    1.1%  

  94% 

  2.0% 

  Tipmark

  9-13

  92%   2.3%  

  95%

  6.4%

Twins

The above tables give the test accuracy for women who do not have twins.  The accuracy in twins depends on whether they are identical or not which can be determined by  examination of the sacs and membranes.  In identical twins the accuracy of Tipmark, Genmark™ and Addmark® is similar to that in non-twins, but when the twins are not identical accuracy is lower. 

  Test

  Week

  Detected

  Positive

  Genmark™

  9-13   

  87%

  1.4%

 

  14-18

  66%

  2.8%

  Addmark®

  9-13

  89%

  1.9%

  Tipmark

  9-13

  88%

  1.6%


Test Interpretation

If a blood sample is taken a week earlier, a result will be given immediately after the ultrasound scan.  If the sample is taken at the time of the scan, a result will be given 3-5 working days later by telephone and in writing.  The result will include the actual risk of Down's syndrome as a risk of 1 in …as well as the interpretation as 'Screen Positive' meaning high risk and 'Screen Negative' meaning lower risk.



Tipmark, Genmark™ and Addmark® are brands of Genome Limited
Genome Limited Leeds Screening Centre, Gemini Park Sheepscar Way Leeds LS7 3JB, UK © Copyright Genome Limited 2009

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