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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

Fetal sex determination in twin pregnancies using non-invasive prenatal testing

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Author(s):
Villela, Darine [1, 2] ; Che, Huiwen [2] ; Van Ghelue, Marijke [2, 3, 4] ; Dehaspe, Luc [2] ; Brison, Nathalie [2] ; Van Den Bogaert, Kris [2] ; Devriendt, Koen [2] ; Lewi, Liesbeth [5, 6] ; Bayindir, Baran [2] ; Vermeesch, Joris Robert [2]
Total Authors: 10
Affiliation:
[1] Univ Sao Paulo, Inst Biosci, Dept Genet & Evolutionary Biol, Sao Paulo - Brazil
[2] Katholieke Univ Leuven, Dept Human Genet, Leuven - Belgium
[3] Univ Hosp North Norway, Div Child & Adolescent Hlth, Dept Med Genet, Tromso - Norway
[4] Univ Tromso, Dept Clin Med, Tromso - Norway
[5] Univ Hosp Leuven, Clin Dept Obstet & Gynecol, Leuven - Belgium
[6] Katholieke Univ Leuven, Dept Dev & Regenerat Cluster Woman & Child, Grp Biomed Sci, Leuven - Belgium
Total Affiliations: 6
Document type: Journal article
Source: NPJ GENOMIC MEDICINE; v. 4, JUL 4 2019.
Web of Science Citations: 0
Abstract

Non-invasive prenatal testing (NIPT) is accurate for fetal sex determination in singleton pregnancies, but its accuracy is not well established in twin pregnancies. Here, we present an accurate sex prediction model to discriminate fetal sex in both dichorionic diamniotic (DCDA) and monochorionic diamniotic/monochorionic monoamniotic (MCDA/MCMA) twin pregnancies. A retrospective analysis was performed using a total of 198 twin pregnancies with documented sex. The prediction was based on a multinomial logistic regression using the normalized frequency of X and Y chromosomes, and fetal fraction estimation. A second-step regression analysis was applied when one or both twins were predicted to be male. The model determines fetal sex with 100% sensitivity and specificity when both twins are female, and with 98% sensitivity and 95% specificity when a male is present. Since sex determination can be clinically important, implementing fetal sex determination in twins will improve overall twin pregnancies management. (AU)

FAPESP's process: 17/23448-8 - Genome-wide cell-free DNA copy number investigation in non-invasive prenatal test
Grantee:Darine Christina Maia Villela
Support type: Scholarships abroad - Research Internship - Post-doctor