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Prevalence of common aneuploidy in twin pregnancies.

Akiko KonishiOsamu SamuraJin MuromotoYoko OkamotoHironori TakahashiYasuyo KasaiMayuko IchikawaNaoki YamadaNoriko KatoHiroshi SatoHiromi HamadaNaoyuki NakanamiMaya MachiKiyotake IchizukaRei SunamiToshitaka TanakaNaoto YonetaniYoshimasa KameiTakeshi NagamatsuMariko MatsumotoShinya TairakuArisa FujiwaraHiroaki NakamuraTakashi HaradaTakafumi WatanabeShoko SasakiSatoshi KawaguchiSawako MinamiMasaki OgawaKiyonori MiuraNobuhiro SuzumoriJunya KojimaTomomi KotaniRumi SasakiTsukasa BabaAya ToyofukuMasayuki EndoNaoki TakeshitaTakeshi TaketaniMasakatsu SaseKeiichi MatsubaraKei HayataYoshinobu HamadaMakiko EgawaToshiyuki KakinumaSachio MatsushimaMichihiro KitagawaTomomi ShigaRyuhei KurashinaHironori HamadaHiroaki TakagiAkane KondoNorio MiharuMichiko YamashitaMadoka HoriyaKeiji MorimotoKen TakahashiAikou OkamotoAkihiko SekizawaHaruhiko Sago
Published in: Journal of human genetics (2022)
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.
Keyphrases
  • gestational age
  • preterm birth
  • risk factors
  • copy number
  • molecular dynamics
  • dna methylation
  • preterm infants
  • machine learning