Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma.
Journal
Molecular cytogenetics
ISSN: 1755-8166
Titre abrégé: Mol Cytogenet
Pays: England
ID NLM: 101317942
Informations de publication
Date de publication:
2020
2020
Historique:
received:
13
11
2019
accepted:
02
03
2020
entrez:
20
3
2020
pubmed:
20
3
2020
medline:
20
3
2020
Statut:
epublish
Résumé
Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited. High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study. The positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY). The NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended.
Sections du résumé
BACKGROUND
BACKGROUND
Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real clinical data are still limited.
METHODS
METHODS
High-throughput massively parallel genomic sequencing (MPS) technique was used to screen for fetal SCAs as part of the research to determine the potential value of NIPT in detecting fetal SCAs in the second trimester. A number of 12,243 consecutive cases from a single center were included in this study.
RESULTS
RESULTS
The positive predictive value (PPV) of NIPT in the present study was 57.6%, which was divided and categorized by individual SCAs as follows: 21.4% for Turner syndrome (45,X), 75.0% for Triple X syndrome (47,XXX), 90.9% for Klinefelter syndrome (47,XXY), and 75.0% for XYY syndrome (47,XYY).
CONCLUSION
CONCLUSIONS
The NIPT-based SCA test cannot be used as a diagnostic method, and performing an invasive confirmation test on NIPT-based SCA-positive cases is strongly recommended.
Identifiants
pubmed: 32190123
doi: 10.1186/s13039-020-0478-5
pii: 478
pmc: PMC7068885
doi:
Types de publication
Journal Article
Langues
eng
Pagination
10Informations de copyright
© The Author(s). 2020.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare that they have no competing interests.
Références
Mol Cytogenet. 2016 Jan 12;9:3
pubmed: 26759606
Prenat Diagn. 2015 Oct;35(10):980-5
pubmed: 26088741
Orphanet J Rare Dis. 2006 Oct 24;1:42
pubmed: 17062147
Prenat Diagn. 2013 Jul;33(7):700-6
pubmed: 23703459
Prenat Diagn. 1998 Jun;18(6):581-4
pubmed: 9664603
Prenat Diagn. 2013 Feb;33(2):198-200
pubmed: 23192749
Prenat Diagn. 2013 Jun;33(6):602-8
pubmed: 23553438
BMJ. 2011 Jan 11;342:c7401
pubmed: 21224326
BMC Med Genomics. 2012 Dec 01;5:57
pubmed: 23198897
Fetal Diagn Ther. 2014;35(1):1-6
pubmed: 24335155
Fetal Diagn Ther. 2018;44(2):85-90
pubmed: 28873375
Prenat Diagn. 2013 Jun;33(6):584-90
pubmed: 23592436
Prenat Diagn. 2012 Nov;32(11):1114-6
pubmed: 22903289
Mol Cytogenet. 2018 Dec 3;11:59
pubmed: 30524505
Prenat Diagn. 2013 Jun;33(6):591-7
pubmed: 23592550
N Engl J Med. 2015 Apr 23;372(17):1675-7
pubmed: 25830325
Orphanet J Rare Dis. 2010 May 11;5:8
pubmed: 20459843
BMJ Open. 2016 Jan 18;6(1):e010002
pubmed: 26781507
Am J Obstet Gynecol. 2014 Oct;211(4):365.e1-12
pubmed: 24657131
Ultrasound Obstet Gynecol. 2015 Mar;45(3):249-66
pubmed: 25639627
Cytogenet Genome Res. 2007;116(3):181-5
pubmed: 17317957
Prenat Diagn. 2013 Jul;33(7):667-74
pubmed: 23592541
Exp Cell Res. 1968 Jan;49(1):219-22
pubmed: 5640698
PLoS One. 2011;6(7):e21791
pubmed: 21755002
Am J Obstet Gynecol. 2004 Jul;191(1):45-67
pubmed: 15295343
Fertil Steril. 1998 Jul;70(1):89-93
pubmed: 9660427
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):118-22
pubmed: 27184347
Ultrasound Obstet Gynecol. 2014 Jul;44(1):17-24
pubmed: 24616044
Semin Fetal Neonatal Med. 2014 Jun;19(3):183-7
pubmed: 24333205
Obstet Gynecol. 2012 May;119(5):890-901
pubmed: 22362253