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

Autor(es)

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]

Afiliação do(s) autor(es)

^[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

• Tipo de documento: Artigo Científico
• Fonte: NPJ GENOMIC MEDICINE; v. 4, JUL 4 2019.
• Citações Web of Science: 0

Resumo

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)

• Processo FAPESP: 17/23448-8 - Investigação global de número de cópias em DNA livre circulante no teste pré-natal não invasivo
• Beneficiário: Darine Christina Maia Villela
• Modalidade de apoio: Bolsas no Exterior - Estágio de Pesquisa - Pós-Doutorado