Recent advances in genomic sequencing and bioinformatics have led to development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS). Recently, a novel prenatal testing method has become available. This method, known as non-invasive prenatal testing (NIPT), is a molecular approach for assessing fetal aneuploidy using cell-free fetal deoxyribonucleic acid (cffDNA) from the plasma of pregnant women. NIPT has a false positive rate of about 0.2% and detection rate of about 98% for Down syndrome. NIPT has been used for assessing abnormalities such as trisomy 21, trisomy 18, and trisomy 13. Approximately 10% to 15% of the cell free deoxyribonucleic acid (DNA) in maternal blood comprises of cffDNA. The half-life of cffDNA is short and clears from maternal circulation soon after delivery. Hence, there is no risk of fetal DNA persisting from one pregnancy to the next and confounding test results. The cost of NIPT ranges from US$800 to US$2000 in the USA and from US$500 to US$1500 elsewhere. A Canadian economic study reported a cost range of C$600 to C$800 for NIPT. Among other factors, cost implications for introducing this new technology in clinical practice will need to be considered. At present there is some uncertainty around the incorporation of NIPT into current strategies for prenatal screening and diagnosis.

The purpose of this report is to provide information on the cost-effectiveness of non-invasive pre-natal testing and to describe evidence-based guidelines for its use.

Contents

• CONTEXT AND POLICY ISSUES
• RESEARCH QUESTIONS
• KEY FINDINGS
• METHODS
  • Literature Search Strategy
  • Selection Criteria and Methods
  • Exclusion Criteria
  • Critical Appraisal of Individual Studies
• SUMMARY OF EVIDENCE
  • Quantity of Research Available
  • Summary of Study Characteristics
  • Summary of Critical Appraisal
  • Summary of Findings
  • Limitations
• CONCLUSIONS AND IMPLICATIONS FOR DECISION OR POLICY MAKING
• REFERENCES
• ABBREVIATIONS
• APPENDIX 1 Selection of Included Studies
• APPENDIX 2 Characteristics of Included Studies
• APPENDIX 3 Grading of Recommendations and Levels of Evidence
• APPENDIX 4 Summary of Study Strengths and Limitations
• APPENDIX 5 Main Study Findings and Authors’ Conclusions
• APPENDIX 6 Guidelines and Recommendations

Disclaimer: The Rapid Response Service is an information service for those involved in planning and providing health care in Canada. Rapid responses are based on a limited literature search and are not comprehensive, systematic reviews. The intent is to provide a list of sources of the best evidence on the topic that CADTH could identify using all reasonable efforts within the time allowed. Rapid responses should be considered along with other types of information and health care considerations. The information included in this response is not intended to replace professional medical advice, nor should it be construed as a recommendation for or against the use of a particular health technology. Readers are also cautioned that a lack of good quality evidence does not necessarily mean a lack of effectiveness particularly in the case of new and emerging health technologies, for which little information can be found, but which may in future prove to be effective. While CADTH has taken care in the preparation of the report to ensure that its contents are accurate, complete and up to date, CADTH does not make any guarantee to that effect. CADTH is not liable for any loss or damages resulting from use of the information in the report.