PMID- 33193669
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20201117
IS  - 1664-8021 (Print)
IS  - 1664-8021 (Electronic)
IS  - 1664-8021 (Linking)
VI  - 11
DP  - 2020
TI  - Application of FF-QuantSC for the Precise Estimation of Fetal Fraction in 
      Non-invasive Prenatal Testing in Two SRY-Translocation Cases.
PG  - 570333
LID - 10.3389/fgene.2020.570333 [doi]
LID - 570333
AB  - 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.
CI  - Copyright (c) 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.
FAU - Zeng, Yan
AU  - Zeng Y
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Gao, Jiong
AU  - Gao J
AD  - Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China.
FAU - Yuan, Hua
AU  - Yuan H
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Zhou, Lijun
AU  - Zhou L
AD  - Clinical Laboratory of BGI Health, BGI-Shenzhen, Shenzhen, China.
FAU - Cheng, Dehua
AU  - Cheng D
AD  - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.
FAU - Che, Ming
AU  - Che M
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Qian, Yandi
AU  - Qian Y
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Fan, Jiaming
AU  - Fan J
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Zhang, Lifang
AU  - Zhang L
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Qian, Feiyan
AU  - Qian F
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Gao, Yuling
AU  - Gao Y
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Luo, Tingting
AU  - Luo T
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Chen, Weiping
AU  - Chen W
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Wang, Ting
AU  - Wang T
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Jin, Yaoxiang
AU  - Jin Y
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Zhao, Jian
AU  - Zhao J
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Shi, Xiaoliang
AU  - Shi X
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Li, Hongmei
AU  - Li H
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Pan, Haitao
AU  - Pan H
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Xiong, Cheng
AU  - Xiong C
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Ni, Yunqin
AU  - Ni Y
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Qiu, Shuchao
AU  - Qiu S
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
FAU - Zhang, Tao
AU  - Zhang T
AD  - Shaoxing Maternity and Child Health Care Hospital, Shaoxing, China.
AD  - Obstetrics and Gynecology Hospital of Shaoxing University, Shaoxing, China.
LA  - eng
PT  - Journal Article
DEP - 20201014
PL  - Switzerland
TA  - Front Genet
JT  - Frontiers in genetics
JID - 101560621
PMC - PMC7592396
OTO - NOTNLM
OT  - FF-QuantSC
OT  - SRY translocation
OT  - Y chromosome
OT  - fetal fraction
OT  - non-invasive prenatal testing
EDAT- 2020/11/17 06:00
MHDA- 2020/11/17 06:01
PMCR- 2020/10/14
CRDT- 2020/11/16 08:48
PHST- 2020/06/24 00:00 [received]
PHST- 2020/09/21 00:00 [accepted]
PHST- 2020/11/16 08:48 [entrez]
PHST- 2020/11/17 06:00 [pubmed]
PHST- 2020/11/17 06:01 [medline]
PHST- 2020/10/14 00:00 [pmc-release]
AID - 10.3389/fgene.2020.570333 [doi]
PST - epublish
SO  - Front Genet. 2020 Oct 14;11:570333. doi: 10.3389/fgene.2020.570333. eCollection 
      2020.