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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
Show Affiliations
Authors Affiliations
  1. 1. Digestive Disease Research Institute, Tehran University of Medical Science, Tehran, Iran
  2. 2. Fetal Health Research Center, Hope Generation Foundation, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Vali-E-Asr Reproductive Health Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Department of Perinatology, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Department of Medicinal Chemistry, Shahid Beheshti School of Pharmacy, Tehran, Iran
  6. 6. Department of Biostatistics and Epidemiology, School of Rehabilitation, University of Social Welfare and Rehabilitation Science, Tehran, Iran
  7. 7. Health in Emergency and Disaster Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  8. 8. Gene Therapy and Regenerative Medicine Research Center, Hope Generation Foundation, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  9. 9. Reproductive Biotechnology Research Center, Avicenna Research Institute, ACECR, Tehran, Iran
  10. 10. Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy
  11. 11. Glickman Urology & Kidney Institute, Cleveland Clinic, Cleveland, OH, United States
  12. 12. Harris Birthright Research Centre of Fetal Medicine, King's College Hospital, London, United Kingdom
  13. 13. Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
  14. 14. Personalized Medicine and Genometabolics Research Center, Hope Generation Foundation, Shahid Beheshti University of Medical Sciences, Tehran, Iran

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