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Publication

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

Journal Contribution - Journal Article

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.
Journal: NPJ Genom Med
ISSN: 2056-7944
Volume: 4
Publication year:2019
BOF-keylabel:yes
IOF-keylabel:yes
BOF-publication weight:3
CSS-citation score:1
Authors:International
Authors from:Higher Education
Accessibility:Open