Villela Darine, Che Huiwen, Van Ghelue Marijke, Dehaspe Luc, Brison Nathalie, Van Den Bogaert Kris, Devriendt Koen, Lewi Liesbeth, Bayindir Baran, Vermeesch Joris Robert
1Department of Human Genetics, KU Leuven, Leuven, Belgium.
2Department of Genetics and Evolutionary Biology, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.
NPJ Genom Med. 2019 Jul 4;4:15. doi: 10.1038/s41525-019-0089-4. eCollection 2019.
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.
无创产前检测（NIPT）在单胎妊娠中对胎儿性别鉴定准确，但在双胎妊娠中的准确性尚未得到充分证实。在此，我们提出一种准确的性别预测模型，用于鉴别双绒毛膜双羊膜囊（DCDA）和单绒毛膜双羊膜囊/单绒毛膜单羊膜囊（MCDA/MCMA）双胎妊娠中的胎儿性别。对总共198例有记录性别的双胎妊娠进行了回顾性分析。该预测基于使用X和Y染色体的标准化频率以及胎儿游离DNA比例估计的多项逻辑回归。当一个或两个胎儿被预测为男性时，应用第二步回归分析。当两个胎儿均为女性时，该模型确定胎儿性别的灵敏度和特异度均为100%；当有男性胎儿时，灵敏度为98%，特异度为95%。由于性别鉴定在临床上可能很重要，在双胎妊娠中实施胎儿性别鉴定将改善整体双胎妊娠管理。
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