De novo balanced chromosome rearrangements in prenatal diagnosis
De novo balanced chromosome rearrangements in prenatal diagnosis
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DOI：
10.1002/pd.2215
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发表时间：
2009-03-01
影响因子：
3
通讯作者：
Dalpra, Leda
中科院分区：
文献类型：
--
作者：
Giardino, Daniela;Corti, Cecilia;Dalpra, Leda
目的 调查29个实验室产前诊断明显平衡染色体重排的数据表，评估特定染色体的参与情况、断点分布及其对妊娠结局的影响。方法通过问卷调查的方式，收集1983年至2006年羊水、绒毛膜绒毛和胎儿血液样本269.371份分析数据。结果共检出平衡异常246个，频率为72% 为相互易位，18% 为罗伯逊易位，7% 为倒位，3% 为复杂染色体重排。羊水、绒毛膜和胎儿血样本平衡重排总频率分别为0.09%、0.08%和0.05%。结论22、7、21、3、9和11号染色体优先受累，X、19、12、6和1号染色体受累较少。注意到断点在染色体上的非随机分布。在 11、7、10 和 22 号染色体上观察到了反复断裂点和脆弱位点位置的关联，而在 3 号染色体上没有记录到这种关联。妊娠终止率约为 20%，其频率从复杂染色体重排 (33%)、相互易位 (24%) 到倒位 (11%) 和罗伯逊易位 (3%)。版权所有 (C) 2009 John Wiley & Sons, Ltd.
Objective We surveyed the datasheets of 29 laboratories concerning prenatal diagnosis of de novo apparently balanced chromosome rearrangements to assess the involvement of specific chromosomes, the breakpoints distribution and the impact on the pregnancy outcome.Method By means of a questionnaire, data on 269.371 analyses performed from 1983 to 2006 on amniotic fluid, chorionic villus and fetal blood samples were collected.Results A total of 246 balanced anomalies were detected at frequencies of 72% for reciprocal translocations, 18% for Robertsonian translocations, 7% for inversions and 3% for complex chromosome rearrangements. The total frequencies of balanced rearrangements were 0.09%, 0.08% and 0.05% on amniotic fluid, chorionic villus and fetal blood samples.Conclusion A preferential involvement of chromosomes 22, 7 21, 3, 9 and 11 and a less involvement of chromosomes X, 19, 12, 6 and 1 was observed. A nonrandom distribution of the breakpoints across chromosomes was noticed. Association in the location of recurrent breakpoints and fragile sites was observed for chromosomes 11, 7, 10 and 22, while it was not recorded for chromosome 3. The rate of pregnancy termination was about 20%, with frequencies decreasing from complex chromosomal rearrangements (33%), reciprocal translocations (24%) to inversions (11%) and Robertsonian translocations (3%). Copyright (C) 2009 John Wiley & Sons, Ltd.