Franssen M T M, Korevaar J C, Tjoa W M, Leschot N J, Bossuyt P M M, Knegt A C, Suykerbuyk R F, Hochstenbach R, van der Veen F, Goddijn M
Centre for Reproductive Medicine, Department of Obstetrics and Gynaecology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Prenat Diagn. 2008 May;28(5):408-11. doi: 10.1002/pd.1960.
To determine the mode of ascertainment of inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis.
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.
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.
Inherited unbalanced structural chromosome abnormalities detected at prenatal chromosome analysis are rarely ascertained through two or more miscarriages.
确定产前染色体分析中检测到的遗传性染色体结构不平衡异常的确诊方式。
从荷兰三个临床遗传学中心的数据库中，选取1992年至2000年期间产前染色体分析检测到的所有遗传性染色体结构不平衡异常病例。通过检查产前染色体分析的原因以及家庭中首次检测到的结构性染色体异常的父母染色体分析的原因来确定确诊方式。
产前染色体分析共检测到56例遗传性染色体结构不平衡异常。仅1例通过之前的两次流产确诊（2%）。主要确诊方式为之前有核型不平衡的孩子（48%）、超声检查发现先天性异常（20%）以及母亲高龄（9%）。其余病例有不同的确诊方式。
产前染色体分析检测到的遗传性染色体结构不平衡异常很少通过两次或更多次流产来确诊。
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