Frontiers in Genetics (Oct 2020)
Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in Non-invasive Prenatal Testing in Two SRY-Translocation Cases
- Yan Zeng,
- Yan Zeng,
- Jiong Gao,
- Hua Yuan,
- Hua Yuan,
- Lijun Zhou,
- Dehua Cheng,
- Ming Che,
- Ming Che,
- Yandi Qian,
- Yandi Qian,
- Jiaming Fan,
- Jiaming Fan,
- Lifang Zhang,
- Lifang Zhang,
- Feiyan Qian,
- Feiyan Qian,
- Yuling Gao,
- Yuling Gao,
- Tingting Luo,
- Tingting Luo,
- Weiping Chen,
- Weiping Chen,
- Ting Wang,
- Ting Wang,
- Yaoxiang Jin,
- Yaoxiang Jin,
- Jian Zhao,
- Jian Zhao,
- Xiaoliang Shi,
- Xiaoliang Shi,
- Hongmei Li,
- Hongmei Li,
- Haitao Pan,
- Haitao Pan,
- Cheng Xiong,
- Cheng Xiong,
- Yunqin Ni,
- Yunqin Ni,
- Shuchao Qiu,
- Shuchao Qiu,
- Tao Zhang,
- Tao Zhang
Affiliations
- Yan Zeng
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Yan Zeng
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Jiong Gao
- Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
- Hua Yuan
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Hua Yuan
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Lijun Zhou
- Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China
- Dehua Cheng
- Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China
- Ming Che
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Ming Che
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Yandi Qian
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Yandi Qian
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Jiaming Fan
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Jiaming Fan
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Lifang Zhang
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Lifang Zhang
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Feiyan Qian
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Feiyan Qian
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Yuling Gao
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Yuling Gao
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Tingting Luo
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Tingting Luo
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Weiping Chen
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Weiping Chen
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Ting Wang
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Ting Wang
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Yaoxiang Jin
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Yaoxiang Jin
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Jian Zhao
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Jian Zhao
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Xiaoliang Shi
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Xiaoliang Shi
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Hongmei Li
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Hongmei Li
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Haitao Pan
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Haitao Pan
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Cheng Xiong
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Cheng Xiong
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Yunqin Ni
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Yunqin Ni
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Shuchao Qiu
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Shuchao Qiu
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- Tao Zhang
- Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China
- Tao Zhang
- Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China
- DOI
- https://doi.org/10.3389/fgene.2020.570333
- Journal volume & issue
-
Vol. 11
Abstract
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.
Keywords
