RESUMO
The incidence of chromosomal abnormalities in twin pregnancies is not well-studied. In this retrospective study, we investigated the frequency of chromosomal abnormalities in twin pregnancies and compared the incidence of chromosomal abnormalities in dichorionic diamniotic (DD) and monochorionic diamniotic (MD) twins. We used data from 57 clinical facilities across Japan. Twin pregnancies of more than 12 weeks of gestation managed between January 2016 and December 2018 were included in the study. A total of 2899 and 1908 cases of DD and MD twins, respectively, were reported, and the incidence of chromosomal abnormalities in one or both fetuses was 0.9% (25/2899) and 0.2% (4/1908) in each group (p = 0.004). In this study, the most common chromosomal abnormality was trisomy 21 (51.7% [15/29]), followed by trisomy 18 (13.8% [4/29]) and trisomy 13 (6.9% [2/29]). The incidence of trisomy 21 in MD twins was lower than that in DD twins (0.05% vs. 0.5%, p = 0.007). Trisomy 21 was less common in MD twins, even when compared with the expected incidence in singletons (0.05% vs. 0.3%, RR 0.15 [95% CI 0.04-0.68]). The risk of chromosomal abnormality decreases in twin pregnancies, especially in MD twins.
Assuntos
Transtornos Cromossômicos , Síndrome de Down , Aneuploidia , Aberrações Cromossômicas , Transtornos Cromossômicos/epidemiologia , Transtornos Cromossômicos/genética , Síndrome de Down/epidemiologia , Síndrome de Down/genética , Feminino , Humanos , Gravidez , Gravidez de Gêmeos , Prevalência , Estudos Retrospectivos , Trissomia/genéticaRESUMO
OBJECTIVE: To assess the influence of abnormal cord insertion (CI) detected by first trimester ultrasonography on the development of twin-to-twin transfusion syndrome (TTTS) in monochorionic diamniotic (MCDA) twins. METHOD: In this retrospective cohort study, consecutive patients with MCDA twins who underwent fetal ultrasound screening in the first trimester between January 2011 and January 2017 were enrolled. The CI sites were evaluated between 11 + 0 and 13 + 6 weeks' gestation. All twin pairs were assigned to the abnormal CI group (twin pair with velamentous cord insertion (VCI) and/or marginal cord insertion (MCI) in one or both twins) or the normal CI group (twin pair with both normal CI). The relationships of adverse outcomes in two groups were analyzed. RESULTS: A total of 109 MCDA twin pairs were examined; 15 cases were classified into the abnormal CI group and 94 cases into the normal CI group. The incidence of TTTS was significantly higher in the abnormal than in the normal CI group (26.7% vs 7.45%, P = .04). In patients who developed TTTS, all donors had VCI. CONCLUSION: Ultrasound evaluation of abnormal CI at 11 + 0 to 13 + 6 weeks' gestation in MCDA twins is valuable in the assessment of the risk for TTTS.
