[Prenatal cell-free DNA in maternal blood screening to assess chromosomal disorders in single pregnancy]

Argento F, Augustovski F, Colaci C, Navarro E, Alfie V, García Martí S, Bardach A, Ciapponi A, Alcaraz A, Pichon-Riviere A
Record ID 32018004414
Original Title: Detección de ADN fetal libre en sangre materna para evaluar alteraciones cromosómicas en embarazo único
Authors' recommendations: High-quality evidence suggests that adding cell-free DNA in maternal blood screening to the traditional algorithm to detect chromosomal disorders, and prior to invasive testing, results in a lower net benefit, decreasing the subsequent number of tests. However, low-quality evidence suggests that this benefit is lower than null in terms of reducing complications (spontaneous abortions) related to invasive procedures. Low-quality evidence suggests that cell-free DNA in maternal blood screening, as a replacement for standard screening, may result in a lower net benefit associated to reducing the number of subsequent invasive procedures. Very low-quality evidence does not allow to draw conclusions about the effectiveness and/or safety of cell-free DNA in maternal blood screening as a replacement for invasive testing in chromosomal disorder diagnosis. However, it is important to consider that, as invasive diagnostic test replacement, it might result in more voluntary interruptions of normal pregnancies, due to a higher frequency of false positive results than spontaneous abortions associated to invasive tests that are not performed. The clinical practice guidelines and recommendations from scientific societies consulted consider the use of cell-free DNA in maternal blood screening, both as screening or triage, without making a clear differentiation between both technologies. However, all the guidelines mention that final diagnosis should be reached using invasive tests. The coverage policies consulted from Latin America, Canada and United Kingdom do not mention cell-free DNA screening. After assessment, the Australian Department of Health, does not cover it because it is not cost-effective. The Highest Authority of Health in France considers its coverage as triage after standard screening. Coverage policies from the United States private health funders consider covering these tests in all pregnant women. In Argentina, no studies assessing the cost-effectiveness or the budget impact of this technology have been found. Therefore, it was considered as uncertain.
Project Status: Completed
Year Published: 2022
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Prenatal Diagnosis
  • Noninvasive Prenatal Testing
  • Cell-Free Nucleic Acids
  • Chromosome Disorders
  • Maternal Serum Screening Tests
  • Trisomy
  • Trisomy 13 Syndrome
  • Trisomy 18 Syndrome
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: info@iecs.org.ar
Contact Email: info@iecs.org.ar
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
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