Prevalence of common aneuploidy in twin pregnancies

Akiko Konishi, Osamu Samura, Jin Muromoto, Yoko Okamoto, Hironori Takahashi, Yasuyo Kasai, Mayuko Ichikawa, Naoki Yamada, Noriko Kato, Hiroshi Sato, Hiromi Hamada, Naoyuki Nakanami, Maya Machi, Kiyotake Ichizuka, Rei Sunami, Toshitaka Tanaka, Naoto Yonetani, Yoshimasa Kamei, Takeshi Nagamatsu, Mariko MatsumotoShinya Tairaku, Arisa Fujiwara, Hiroaki Nakamura, Takashi Harada, Takafumi Watanabe, Shoko Sasaki, Satoshi Kawaguchi, Sawako Minami, Masaki Ogawa, Kiyonori Miura, Nobuhiro Suzumori, Junya Kojima, Tomomi Kotani, Rumi Sasaki, Tsukasa Baba, Aya Toyofuku, Masayuki Endo, Naoki Takeshita, Takeshi Taketani, Masakatsu Sase, Keiichi Matsubara, Kei Hayata, Yoshinobu Hamada, Makiko Egawa, Toshiyuki Kakinuma, Sachio Matsushima, Michihiro Kitagawa, Tomomi Shiga, Ryuhei Kurashina, Hironori Hamada, Hiroaki Takagi, Akane Kondo, Norio Miharu, Michiko Yamashita, Madoka Horiya, Keiji Morimoto, Ken Takahashi, Aikou Okamoto, Akihiko Sekizawa, Haruhiko Sago

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)261-265
Number of pages5
JournalJournal of Human Genetics
Volume67
Issue number5
DOIs
Publication statusPublished - May 2022
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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