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. 2022 May;67(5):261-265.
doi: 10.1038/s10038-021-01001-0. Epub 2022 Jan 1.

Prevalence of common aneuploidy in twin pregnancies

Affiliations

Prevalence of common aneuploidy in twin pregnancies

Akiko Konishi et al. J Hum Genet. 2022 May.

Abstract

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.

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Number and types of twin pregnancies included in the study.
The number and types of twin pregnancies included in the study, as well as the excluded cases and the reason for exclusion, are summarized. DD Dichorionic diamniotic, MD Monochorionic diamniotic, and MM Monochorionic monoamniotic.
Fig. 2
Fig. 2. Maternal age distribution in different groups.
The number of mothers of DD and MD twins and the maternal age is displayed. DD Dichorionic diamniotic and MD Monochorionic diamniotic

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