What to look for in Down's syndrome screening software

 

Requirements for acceptable Down's syndrome interpretive software

 

  Feature Comment Present in αlpha?
1 Proven scientific reliability Should be based on peer-reviewed published data and statistical methodology

2 Down's syndrome risk estimation method Must be capable of interpreting tests based on maternal age and NT, PAPP-A, hCG and nasal bone presence or absence in the first trimester and AFP, uE3, hCG and inhibin in the second trimester
3 Transparency Interpretation and risk estimation should be capable of independent verification using specified data and methods

Statistical parameters used should be available in the software and supporting documentation.
4 Normal medians of screening markers Should allow the used of laboratory-specific normal medians to derive MoM values.

Should not update medians automatically; the user should maintain control
5 Result interpretation Provide screening interpretations based on all test protocols, including first trimester combined test, second trimester quadruple test, the Integrated test and sequential testing.

Should divide results into screen-positive and screen-negative categories, according to pre-assigned risk cut-off.
6 Adjusting MoMs Should provide facility to adjust for:
  • Maternal weight
  • Method of estimating gestational age
  • Ethnic group
  • Insulin dependent diabetes mellitus
  • Smoking
  • MoM values in previous pregnancies
  • Twin pregnancy
  • In vitro fertilization
7 Adjusting risk estimates Should adjust for:
  • Previous history of Down's syndrome or open neural tube defects
  • Previous screening result in same pregnancy (repeat testing)
8 Nuchal translucency Should allow:
  • Use of user derived NT median values
  • Facilities for monitoring (median MoM, standard deviation and % increase in MoM values with gestation) and updating sonographer and site specific NT medians
9 Monitoring facilities Should allow over specified calendar periods, the monitoring of:
  • Number of patients screened
  • Screen positive rate
  • Numbers updated or corrected
  • Normal medians to allow the identification and correction of any drift
  • Age distribution of screened population
  • Expected detection and false-positive rates based on age distribution for any combination of screening markers
10 Validation of risk estimation Should provide facility to allow pregnancy outcomes to be entered and to confirm that the Down's syndrome risk calculated agrees with the observed prevalence
11 Database Should allow for:
  • Exporting of results into other software for further analysis
  • Audit trail for screening policy and individual patient reports
12 Support Should provide:
  • Comprehensive on site installation and training
  • Readily available professional technical support
13 Latest scientific advances  Should provide regular free software upgrades to ensure users have access to the latest screening methods

 

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