Inherited unbalanced structural chromosome abnormalities at prenatal chromosome analysis are rarely ascertained through recurrent miscarriage

被引：10
作者：
Franssen, M. T. M. [1 ,2 ]
Korevaar, J. C. [3 ]
Tjoa, W. M. [2 ]
Leschot, N. J. [2 ]
Bossuyt, P. M. M. [3 ]
Knegt, A. C. [2 ]
Suykerbuyk, R. F. [4 ]
Hochstenbach, R. [5 ]
van der Veen, F. [1 ]
Goddijn, M. [1 ]
机构：
[1] Univ Amsterdam, Acad Med Ctr, Dept Obstet & Gynaecol, Ctr Reprod Med, NL-1100 DE Amsterdam, Netherlands
[2] Univ Amsterdam, Acad Med Ctr, Dept Clin Genet, NL-1100 DE Amsterdam, Netherlands
[3] Univ Amsterdam, Acad Med Ctr, Dept Clin Epidemiol Biostat & Bioinformat, NL-1100 DE Amsterdam, Netherlands
[4] Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9713 AV Groningen, Netherlands
[5] Univ Med Ctr Utrecht, Dept Clin Genet, Utrecht, Netherlands
来源：
PRENATAL DIAGNOSIS | 2008年 / 28卷 / 05期
关键词：
recurrent miscarriage; karyotype; translocation; prenatal diagnosis; structural chromosome abnormality;
D O I：
10.1002/pd.1960
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Objective To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis. Methods From the databases of three centres for clinical genetics in the Netherlands, all cases of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis in the period 1992-2000 were selected. The mode of ascertainment was identified by examining the reason for prenatal chromosome analysis and the reason for parental chromosome analysis of the first structural chromosome abnormality detected within the family. Results Totally 56 cases of inherited unbalanced structural chromosome abnormalities were detected at prenatal chromosome analysis. Only one case was ascertained through two previous miscarriages (2%). The main modes of ascertainment were a previous child with an unbalanced karyotype (48%), congenital abnormalities at ultrasound examination (20%), and advanced maternal age (9%). The remaining cases had a different mode of ascertainment. Conclusion Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages. Copyright (c) 2008 John Wiley & Sons, Ltd.
引用
收藏
页码：408 / 411
页数：4
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