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Uptake and Outcomes of Implementing Non-Invasive Prenatal Testing (Prenatal Reflex Dna Testing) Into First-Trimester Contingent Screening Protocols for Trisomy 21, 18, 13: A Study Protocol Publisher



Malekzadeh R1 ; Modaberisaber Y2 ; Farrokhi B2 ; Hamidian Y2 ; Ordoubadi M2 ; Hantoushzadeh S3 ; Jamal A4 ; Kobarfard F5 ; Saatchi M6, 7 ; Najafipour R8 ; Soleimani Z2 ; Soltanghoraee H8 ; Khorami Sarvestani S9 ; Darbandi S8 Show All Authors
Authors
  1. Malekzadeh R1
  2. Modaberisaber Y2
  3. Farrokhi B2
  4. Hamidian Y2
  5. Ordoubadi M2
  6. Hantoushzadeh S3
  7. Jamal A4
  8. Kobarfard F5
  9. Saatchi M6, 7
  10. Najafipour R8
  11. Soleimani Z2
  12. Soltanghoraee H8
  13. Khorami Sarvestani S9
  14. Darbandi S8
  15. Darbandi M2
  16. Cannarella R10, 11
  17. Nicolaides KH12
  18. Khorram Khorshid HR13, 14

Source: Gene Reports Published:2024


Abstract

Chromosomal anomalies (CAs), such as trisomies 21 (T21), 18 (T18), and 13 (T13), are significant contributors to birth defects and genetic conditions worldwide. Cell-free fetal DNA testing (cff-DNA) is the preferred method for detecting these trisomies from maternal blood samples. However, its adoption is hindered by high costs and complexities. To enhance efficiency and reduce financial strain, we propose a practical protocol. This approach involves a contingent test based on biochemical and ultrasound markers commonly used in clinical practice. We aim to leverage cost-effective contingent prenatal DNA screening for trisomies 21, 18, and 13. This is integrated into standard aneuploidy screening during the first trimester at prenatal centers. Screening participants are categorized into four pathways (1T Quad, 1T Combined, 1T Expanded Combined, and 1T Expanded Combined + Ductus Venosus Pulsatility Index) based on biochemical markers (PAPP-A, Free β-hCG, PlGF, AFP) and ultrasound indicators (NT, DV-PI) as per FMF guidelines. Pregnant subjects (Low/High/Moderate Risk) with a high chance of affected pregnancy (1:1000 ≤ Risk < 1:10) undergo the DNA reflex screening test using stored plasma samples. © 2024
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Mohammad Hossein Modarressi (3)
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