Cargando…
Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases
Background: Non-invasive prenatal testing (NIPT) is a commonly employed clinical method to screen for fetal aneuploidy, while the Y chromosome-based NIPT method is regarded as the gold standard for the estimation of fetal fraction (FF) of male fetuses. However, when the fetus has a derivative Y chro...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592396/ https://www.ncbi.nlm.nih.gov/pubmed/33193669 http://dx.doi.org/10.3389/fgene.2020.570333 |
_version_ | 1783601175731372032 |
---|---|
author | Zeng, Yan Gao, Jiong Yuan, Hua Zhou, Lijun Cheng, Dehua Che, Ming Qian, Yandi Fan, Jiaming Zhang, Lifang Qian, Feiyan Gao, Yuling Luo, Tingting Chen, Weiping Wang, Ting Jin, Yaoxiang Zhao, Jian Shi, Xiaoliang Li, Hongmei Pan, Haitao Xiong, Cheng Ni, Yunqin Qiu, Shuchao Zhang, Tao |
author_facet | Zeng, Yan Gao, Jiong Yuan, Hua Zhou, Lijun Cheng, Dehua Che, Ming Qian, Yandi Fan, Jiaming Zhang, Lifang Qian, Feiyan Gao, Yuling Luo, Tingting Chen, Weiping Wang, Ting Jin, Yaoxiang Zhao, Jian Shi, Xiaoliang Li, Hongmei Pan, Haitao Xiong, Cheng Ni, Yunqin Qiu, Shuchao Zhang, Tao |
author_sort | Zeng, Yan |
collection | PubMed |
description | Background: Non-invasive prenatal testing (NIPT) is a commonly employed clinical method to screen for fetal aneuploidy, while the Y chromosome-based NIPT method is regarded as the gold standard for the estimation of fetal fraction (FF) of male fetuses. However, when the fetus has a derivative Y chromosome thereby containing a partial Y chromosome, the Y chromosome-based NIPT method cannot accurately calculate FF. Therefore, alternative methods to precisely calculate FF are required. Methods: Two prenatal cases could not be detected effectively using the Y chromosome-based NIPT method because of low FF. According to the Y chromosome-based method, the FF of the fetuses were 1.730 ± 0.050% (average gestation week: 18(+1)) and 2.307 ± 0.191% (average gestation week: 20(+0)) for cases 1 and 2, respectively. Using various genetic diagnostic techniques, including the BoBs™ assay, karyotype analysis, improved nucleolus-organizing region (NOR)-banding analysis, Affymetrix CytoScan 750K Array, and fluorescence in situ hybridization (FISH) analysis, we determined the genetic defects of two fetuses with translocations of the SRY locus. Further, we reassessed the FF using FF-QuantSC and X chromosome-based methods. The distribution diagram of reads for chromosome Y was also analyzed. Results: The FF of the fetuses determined by FF-QuantSC were 10.330% (gestation week: 18(+4)) in case 1 and 9.470% (gestation week: 21(+4)) in case 2, while the FF of the fetuses determined using the X chromosome-based method were 8.889% (gestation week: 18(+4)) in case 1 and 2.296% (gestation week: 21(+4)) in case 2. Both the distribution diagrams of reads for chromosome Y of the two cases showed the deletion in the long arm of the Y chromosome. Conclusion: For repeatedly low FF samples detected using the Y chromosome-based NIPT method for a long gestational week, we believe that FF-QuantSC and distribution diagrams of reads could be used as a supplement to NIPT, especially for rare cases of sex reversal caused by SRY translocation. |
format | Online Article Text |
id | pubmed-7592396 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75923962020-11-13 Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases Zeng, Yan Gao, Jiong Yuan, Hua Zhou, Lijun Cheng, Dehua Che, Ming Qian, Yandi Fan, Jiaming Zhang, Lifang Qian, Feiyan Gao, Yuling Luo, Tingting Chen, Weiping Wang, Ting Jin, Yaoxiang Zhao, Jian Shi, Xiaoliang Li, Hongmei Pan, Haitao Xiong, Cheng Ni, Yunqin Qiu, Shuchao Zhang, Tao Front Genet Genetics Background: Non-invasive prenatal testing (NIPT) is a commonly employed clinical method to screen for fetal aneuploidy, while the Y chromosome-based NIPT method is regarded as the gold standard for the estimation of fetal fraction (FF) of male fetuses. However, when the fetus has a derivative Y chromosome thereby containing a partial Y chromosome, the Y chromosome-based NIPT method cannot accurately calculate FF. Therefore, alternative methods to precisely calculate FF are required. Methods: Two prenatal cases could not be detected effectively using the Y chromosome-based NIPT method because of low FF. According to the Y chromosome-based method, the FF of the fetuses were 1.730 ± 0.050% (average gestation week: 18(+1)) and 2.307 ± 0.191% (average gestation week: 20(+0)) for cases 1 and 2, respectively. Using various genetic diagnostic techniques, including the BoBs™ assay, karyotype analysis, improved nucleolus-organizing region (NOR)-banding analysis, Affymetrix CytoScan 750K Array, and fluorescence in situ hybridization (FISH) analysis, we determined the genetic defects of two fetuses with translocations of the SRY locus. Further, we reassessed the FF using FF-QuantSC and X chromosome-based methods. The distribution diagram of reads for chromosome Y was also analyzed. Results: The FF of the fetuses determined by FF-QuantSC were 10.330% (gestation week: 18(+4)) in case 1 and 9.470% (gestation week: 21(+4)) in case 2, while the FF of the fetuses determined using the X chromosome-based method were 8.889% (gestation week: 18(+4)) in case 1 and 2.296% (gestation week: 21(+4)) in case 2. Both the distribution diagrams of reads for chromosome Y of the two cases showed the deletion in the long arm of the Y chromosome. Conclusion: For repeatedly low FF samples detected using the Y chromosome-based NIPT method for a long gestational week, we believe that FF-QuantSC and distribution diagrams of reads could be used as a supplement to NIPT, especially for rare cases of sex reversal caused by SRY translocation. Frontiers Media S.A. 2020-10-14 /pmc/articles/PMC7592396/ /pubmed/33193669 http://dx.doi.org/10.3389/fgene.2020.570333 Text en Copyright © 2020 Zeng, Gao, Yuan, Zhou, Cheng, Che, Qian, Fan, Zhang, Qian, Gao, Luo, Chen, Wang, Jin, Zhao, Shi, Li, Pan, Xiong, Ni, Qiu and Zhang. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Genetics Zeng, Yan Gao, Jiong Yuan, Hua Zhou, Lijun Cheng, Dehua Che, Ming Qian, Yandi Fan, Jiaming Zhang, Lifang Qian, Feiyan Gao, Yuling Luo, Tingting Chen, Weiping Wang, Ting Jin, Yaoxiang Zhao, Jian Shi, Xiaoliang Li, Hongmei Pan, Haitao Xiong, Cheng Ni, Yunqin Qiu, Shuchao Zhang, Tao Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title | Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title_full | Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title_fullStr | Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title_full_unstemmed | Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title_short | Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases |
title_sort | application of ff-quantsc for the precise estimation of fetal fraction in non-invasive prenatal testing in two sry-translocation cases |
topic | Genetics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592396/ https://www.ncbi.nlm.nih.gov/pubmed/33193669 http://dx.doi.org/10.3389/fgene.2020.570333 |
work_keys_str_mv | AT zengyan applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT gaojiong applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT yuanhua applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT zhoulijun applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT chengdehua applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT cheming applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT qianyandi applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT fanjiaming applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT zhanglifang applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT qianfeiyan applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT gaoyuling applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT luotingting applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT chenweiping applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT wangting applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT jinyaoxiang applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT zhaojian applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT shixiaoliang applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT lihongmei applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT panhaitao applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT xiongcheng applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT niyunqin applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT qiushuchao applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases AT zhangtao applicationofffquantscforthepreciseestimationoffetalfractioninnoninvasiveprenataltestingintwosrytranslocationcases |