Prevalence of common aneuploidy in twin pregnancies.

Prevalence of common aneuploidy in twin pregnancies.
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DOI:
10.1038/s10038-021-01001-0
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发表时间:
2022-05
影响因子:
3.5
通讯作者:
Sago, Haruhiko
Sago, Haruhiko
中科院分区:
生物学3区
文献类型:
--
作者:
Konishi, Akiko;Samura, Osamu;Muromoto, Jin;Okamoto, Yoko;Takahashi, Hironori;Kasai, Yasuyo;Ichikawa, Mayuko;Yamada, Naoki;Kato, Noriko;Sato, Hiroshi;Hamada, Hiromi;Nakanami, Naoyuki;Machi, Maya;Ichizuka, Kiyotake;Sunami, Rei;Tanaka, Toshitaka;Yonetani, Naoto;Kamei, Yoshimasa;Nagamatsu, Takeshi;Matsumoto, Mariko;Tairaku, Shinya;Fujiwara, Arisa;Nakamura, Hiroaki;Harada, Takashi;Watanabe, Takafumi;Sasaki, Shoko;Kawaguchi, Satoshi;Minami, Sawako;Ogawa, Masaki;Miura, Kiyonori;Suzumori, Nobuhiro;Kojima, Junya;Kotani, Tomomi;Sasaki, Rumi;Baba, Tsukasa;Toyofuku, Aya;Endo, Masayuki;Takeshita, Naoki;Taketani, Takeshi;Sase, Masakatsu;Matsubara, Keiichi;Hayata, Kei;Hamada, Yoshinobu;Egawa, Makiko;Kakinuma, Toshiyuki;Matsushima, Sachio;Kitagawa, Michihiro;Shiga, Tomomi;Kurashina, Ryuhei;Hamada, Hironori;Takagi, Hiroaki;Kondo, Akane;Miharu, Norio;Yamashita, Michiko;Horiya, Madoka;Morimoto, Keiji;Takahashi, Ken;Okamoto, Aikou;Sekizawa, Akihiko;Sago, Haruhiko

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双胎妊娠中染色体异常的发生率尚未得到充分研究。在这项回顾性研究中,我们调查了双胎妊娠中染色体异常的频率,并比较了双绒毛膜双膜性(DD)和单绒毛膜双膜性(MD)双胎中染色体异常的发生率。我们使用了来自日本57家临床机构的数据。研究纳入了2016年1月至2018年12月期间管理的妊娠超过12周的双胞胎妊娠。共报告了2899例DD和1908例MD双胞胎,每组中一个或两个胎儿染色体异常的发生率分别为0.9%(25/2899)和0.2%(4/1908)(p = 0.004)。在本研究中,最常见的染色体异常是21三体(51.7% [15/29]),其次是18三体(13.8% [4/29])和13三体(6.9% [2/29])。MD双胞胎中21三体的发生率低于DD双胞胎(0.05% vs. 0.5%,p = 0.007)。即使与单胎的预期发生率相比,21三体在MD双胎中也不太常见(0.05% vs. 0.3%,RR 0.15 [95% CI 0.04-0.68])。双胎妊娠中染色体异常的风险降低,尤其是MD双胎。
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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