Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran

Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran Publisher Pubmed

Garshasbi M^{1, 3} ; Wang Y² ; Hantoosh Zadeh S⁴ ; Giti S¹ ; Piri S⁵ ; Hekmat MR^{1, 6}

Show Affiliations

1. Medical Genetics Department, DeNA Laboratory, Tehran, Iran
2. School of Biology and Biological Engineering, South China University of Technology, Guangzhou, China
3. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
4. Maternal Fetal Neonatal Research Center, Tehran Medical University, Tehran, Iran
5. Private Fetal Medicine Practice, Tehran, Iran
6. Medical Genetics Department, DeNA Laboratory, 4 Niloo St., Valiasr Ave., Tehran, 1434875881, Iran

Source: Fetal Diagnosis and Therapy Published:2020

Abstract

Purpose: To report the clinical experience and performance of plasma cell-free DNA sequencing-based noninvasive -prenatal testing (NIPT) as a screening method in detecting trisomy 21, 18, 13 (T21/T18/T13) as well as sex chromosome aneuploidy (SCA) in a mixed-risk population in Iran. Methods: In a 2-year period between January 1, 2015, and December 31, 2016, over 150 medical centers in Iran offered NIPT as clinical screening tests for fetal T21, T18, T13 and SCA. All NIPT positive cases were recommended to undergo invasive prenatal diagnosis. Results: 11,414 maternal blood samples were received for NIPT, for which 11,223 samples obtained NIPT results. Among 11,213 cases with confirmatory results, 94 T21, 39 T18, 8 T13, 15 XO, 6 XXX, 3 XYY, 5 XXY and 11,042 euploid cases were detected. The overall sensitivity of NIPT was 98.90, 100.00, 100.00, 90.91, 100.00, 100.00 and 100.00%, and specificities were 99.96, 99.97, 99.99, 99.96, 99.98, 100.00 and 99.99% for detecting T21, T18, T13, XO, XXX, XYY and XXY, respectively. Conclusion: With a stringent protocol, our prospective large-scale multicentric nationwide study demonstrated that NIPT showed excellent performance as screening test for the detection of fetal T21, T18, T13 and SCA in mixed-risk pregnancies in Iran. © 2019 S. Karger AG, Basel. All rights reserved.

Style	Citing Format
MLA	Garshasbi M, et al.. "Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran." Fetal Diagnosis and Therapy, vol. 47, no. 3, 2020, pp. 220-227.
APA	Garshasbi M, Wang Y, Hantoosh Zadeh S, Giti S, Piri S, Hekmat MR (2020). Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran. Fetal Diagnosis and Therapy, 47(3), 220-227.
Chicago	Garshasbi M, Wang Y, Hantoosh Zadeh S, Giti S, Piri S, Hekmat MR. "Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran." Fetal Diagnosis and Therapy 47, no. 3 (2020): 220-227.
Harvard	Garshasbi M et al. (2020) 'Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran', Fetal Diagnosis and Therapy, 47(3), pp. 220-227.
Vancouver	Garshasbi M, Wang Y, Hantoosh Zadeh S, Giti S, Piri S, Hekmat MR. Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran. Fetal Diagnosis and Therapy. 2020;47(3):220-227.
BibTex	@article{ author = {Garshasbi M and Wang Y and Hantoosh Zadeh S and Giti S and Piri S and Hekmat MR}, title = {Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran}, journal = {Fetal Diagnosis and Therapy}, volume = {47}, number = {3}, pages = {220-227}, year = {2020} }
RIS	TY - JOUR AU - Garshasbi M AU - Wang Y AU - Hantoosh Zadeh S AU - Giti S AU - Piri S AU - Hekmat MR TI - Clinical Application of Cell-Free Dna Sequencing-Based Noninvasive Prenatal Testing for Trisomies 21, 18, 13 and Sex Chromosome Aneuploidy in a Mixed-Risk Population in Iran JO - Fetal Diagnosis and Therapy VL - 47 IS - 3 SP - 220 EP - 227 PY - 2020 ER -

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