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Mazaheri, M., Yavari, M., Behravesh, S., NikKhah, H., Ekraminasab, S. (2023). Prenatal Screening Using QF-PCR and Karyotyping with an Evaluation of Short Tandem Repeats Markers in the Iranian Population. Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(1), 1-9. doi: 10.18502/wjpn.v6i1.14247
Mahta Mazaheri; Mahdiyeh Yavari; Soheil Behravesh; Haniyeh NikKhah; Sedigheh Ekraminasab. "Prenatal Screening Using QF-PCR and Karyotyping with an Evaluation of Short Tandem Repeats Markers in the Iranian Population". Shahid Sadoughi University of Medical Sciences- Journal Management System, 6, 1, 2023, 1-9. doi: 10.18502/wjpn.v6i1.14247
Mazaheri, M., Yavari, M., Behravesh, S., NikKhah, H., Ekraminasab, S. (2023). 'Prenatal Screening Using QF-PCR and Karyotyping with an Evaluation of Short Tandem Repeats Markers in the Iranian Population', Shahid Sadoughi University of Medical Sciences- Journal Management System, 6(1), pp. 1-9. doi: 10.18502/wjpn.v6i1.14247
Mazaheri, M., Yavari, M., Behravesh, S., NikKhah, H., Ekraminasab, S. Prenatal Screening Using QF-PCR and Karyotyping with an Evaluation of Short Tandem Repeats Markers in the Iranian Population. Shahid Sadoughi University of Medical Sciences- Journal Management System, 2023; 6(1): 1-9. doi: 10.18502/wjpn.v6i1.14247

Prenatal Screening Using QF-PCR and Karyotyping with an Evaluation of Short Tandem Repeats Markers in the Iranian Population

World Journal of Peri and Neonatology
Article 1, Volume 6, Issue 1, December 2023, Pages 1-9    PDF (877.2 K)
Document Type: Original Article
DOI: 10.18502/wjpn.v6i1.14247
Authors
Mahta Mazaheri* 1, 2, 3; Mahdiyeh Yavari3; Soheil Behravesh2; Haniyeh NikKhah3; Sedigheh Ekraminasab1, 4
1Mother and Newborn Health Research Center, Shahid Sadoughi Hospital, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
2Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran
3Dr. Mazaheri’s Medical Genetics Lab, Yazd, Iran
4Department of Hematology and Blood Banking, School of Allied Medical Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
Abstract
Background: Quantitative fluorescent Polymerase Chain Reaction (QF-PCR) has been widely used by laboratories as a rapid, low-cost, and convenient test compared to conventional karyotyping for detecting the most common aneuploidies for prenatal diagnosis. Although the latter has been considered the gold standard for detection, the debate to use QF-PCR or both methods together continues. We screened the results of QF-PCR and karyotyping to compare their detection rate for the most common aneuploidies. In addition, we aimed to investigate the most informative markers in the Iranian population for aneuploidies. 
Methods: We screened 741 pregnant women’s amniotic fluid samples with nuchal translucency (NT) ≥2.5 for two years, during which QF-PCR and karyotyping were performed to compare the results. Also, we did a statistical assessment of samples for heterozygosity of 25 short tandem repeats (STR) markers in the Iranian population, which can be applied to find the most informative markers based on the population for each chromosome analyzed in the QF-PCR test.
Results: The QF-PCR results were 99.8, consistent with the results of cytogenetic analysis, and just one case could not be detected with QF-PCR due to mosaicism.  Among the evaluated markers in this study, D13S258, D18S51, and D21S1411 had the highest frequency of heterozygosity.
Conclusion: QF-PCR could be used as a stand-alone test to reduce the workload and time-consuming of karyotyping, but using both of them could lead us to the most reliable results.

 
 
Keywords
Aneuploidy; PCR; Karyotyping; Iran; Prenatal Diagnosis; Tandem Repeat Sequences
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