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

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.

SUBMITTER: Villela D 

PROVIDER: S-EPMC6609680 | biostudies-other | 2019

REPOSITORIES: biostudies-other

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

Villela Darine D   Che Huiwen H   Van Ghelue Marijke M   Dehaspe Luc L   Brison Nathalie N   Van Den Bogaert Kris K   Devriendt Koen K   Lewi Liesbeth L   Bayindir Baran B   Vermeesch Joris Robert JR  

NPJ genomic medicine 20190704

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 multino  ...[more]