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Performance of Cell Free Dna As a Screening Tool Based on the Results of First Trimester Screening Publisher



Motevasselian M1 ; Omrani MA2 ; Saleh Gargari S3 ; Younesi S4 ; Taheri Amin MM4 ; Saadati P4 ; Jamali S4 ; Modarresi MH5 ; Savad S5 ; Rahmani M4 ; Amidi S4 ; Delshad S4 ; Navidpour F4 ; Chagheri S4 Show All Authors
Authors
  1. Motevasselian M1
  2. Omrani MA2
  3. Saleh Gargari S3
  4. Younesi S4
  5. Taheri Amin MM4
  6. Saadati P4
  7. Jamali S4
  8. Modarresi MH5
  9. Savad S5
  10. Rahmani M4
  11. Amidi S4
  12. Delshad S4
  13. Navidpour F4
  14. Chagheri S4
  15. Mohammadi Y4
  16. Khalilian S6
  17. Eslami S7, 8
  18. Ghafourifard S6
Show Affiliations
Authors Affiliations
  1. 1. Department of Obstetrics and Gynecology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Urology and Nephrology Research Center (UNRC), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Men’s Health and Reproductive Health Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Department of Nilou Laboratory, Tehran, Iran
  5. 5. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  7. 7. Department of Medical Biotechnology, School of Medicine, Alborz University of Medical Sciences, Karaj, Iran
  8. 8. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran

Source: Molecular Cytogenetics Published:2024


Abstract

The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleton pregnancies. After exclusion of some cases, the study cohort ended up with 1674 cases. We analyzed the performance of NIPT based on the results of first trimester screening (FTS) using serum screening combined with NT. The cases were also compared to diagnostic testing/pregnancy outcomes. Notably, in the subgroup with FTS risk < 1000, NIPT was reported to be normal in all cases with no false negative results. In the risk group of 1/300-1/1000, NIPT could detect all trisomy 21 cases with one false positive result. Moreover, in the risk group of 1/11 − 1/300, NIPT could detect all cases of trisomy 21, 13 and 18 with low false positive rate. However, the false positive rate for sex chromosomal abnormalities was high. Taken together, the current study confirms the applicability of NIPT as a tool for detection of fetal trisomies with high sensitivity and specificity. Yet, the high rate of false positive results for sex chromosome abnormalities should be considered in the interpretation of the results. © The Author(s) 2024.
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1. Maternal and Fetal Factors Affecting Cell-Free Fetal Dna (Cffdna) Fraction: A Systematic Review, Journal of Reproduction and Infertility (2023)
2. Extreme Βhcg Levels in First Trimester Screening Are Risk Factors for Adverse Maternal and Fetal Outcomes, Scientific Reports (2023)
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