Imprinting disorders and assisted reproductive technology.

Imprinting disorders and assisted reproductive technology.
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DOI:
10.1016/j.fertnstert.2009.01.002
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发表时间:
2009-02
影响因子:
6.7
通讯作者:
Segars J
Segars J
中科院分区:
医学2区
文献类型:
--
作者:
Manipalviratn S;DeCherney A;Segars J

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回顾目前关于人类印迹疾病(Beckwith-Wiedemann综合征[BWS]、Angleman综合征[AS]和视网膜母细胞瘤)与辅助生殖技术(ART)之间关系的文献。1978年7月至2008年2月,使用PubMed、Medline和EMBASE对印迹/表观遗传疾病(包括BWS、AS和视网膜母细胞瘤)与ART和ART结果(包括IVF和ICSI)相关的出版物进行了鉴定。在动物研究中有相当多的证据表明,体外培养的胚胎的基因印记发生了改变。来自欧洲、美国和澳大利亚的出版物都认为抗逆转录病毒治疗与BWS之间存在关联。重要的是,在接受抗逆转录病毒治疗后出生的新生儿中,90%以上有印记缺陷,而在未接受抗逆转录病毒治疗的新生儿中,这一比例为40-50%。此外,也有其他报告表明AS和ART之间存在关联。大多数接受抗逆转录病毒治疗后出生的AS儿童的潜在病因是印迹缺陷,特别是母体等位基因甲基化的缺失。有一份报告显示,接受抗逆转录病毒治疗的儿童视网膜母细胞瘤的发病率增加。由于印迹疾病的绝对发生率非常小(< 1:12 000出生),不建议对接受抗逆转录病毒治疗的儿童进行印迹疾病的常规筛查。需要对抗逆转录病毒治疗后出生的儿童进行更多的大型队列研究,以确定抗逆转录病毒治疗与印迹障碍之间是否存在真正的联系。
To review currently available literature on the association between imprinting disorders (Beckwith-Wiedemann syndrome [BWS], Angleman syndrome [AS] and retinoblastoma) and assisted reproductive technologies (ART) in humans. Publications related to imprinting/epigenetic disorders including BWS, AS and retinoblastoma with ART and articles publishing outcome of ART, including IVF and ICSI, from July 1978 to February 2008 were identified using PubMed, Medline and EMBASE. Considerable evidence in animal studies has demonstrated alteration in gene imprinting of embryos cultured in vitro. Publications from Europe, America and Australia have suggested an association between ART and BWS. Importantly, more than 90% of BWS in children born after ART had imprinting defects, compared to 40–50% of BWS in children conceived without ART. Moreover, there have been other reports suggesting an association between AS and ART. The majority of children with AS born after ART had an imprinting defect as the underlying etiology, specifically loss of methylation of the maternal allele. There was a single report suggesting an increased incidence of retinoblastoma in children conceived with ART. Because the absolute incidence of imprinting disorders is very small (< 1:12,000 births), routine screening for imprinting disorders in children conceived with ART is not recommended. Additional large cohort studies of children born after ART are needed to determine whether there is a genuine association between ART and imprinting disorders.
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