Ljunger Elisabeth, Cnattingius Sven, Lundin Catarina, Annerén Göran
Department of Women and Child Health, Uppsala University, Uppsala, Sweden.
Acta Obstet Gynecol Scand. 2005 Nov;84(11):1103-7. doi: 10.1111/j.0001-6349.2005.00882.x.
It is well known that a large proportion of first-trimester spontaneous abortions is caused by chromosomal disorders. The present study represents a unique material and the success rate of the karyotyping was high.
Chromosomal analysis from chorionic villus sampling of 259 of 304 consecutive first-trimester miscarriages in the Uppsala County, Sweden is presented.
An abnormal karyotype was found in 61% of the cases. Autosomal trisomies were most frequently detected (in 37% of the karyotyped samples), followed by polyploidies (9%) and monosomy X (6%). Cases with an extra sex chromosome constituted approximately 5% of the karyotyped abortions, with a remarkable high frequency of 47,XXY (3.4%), that is approximately 40 times greater the prevalence of Klinefelter syndrome among live birth. Similar to autosomal chromosome abnormalities, present finding indicates that the majority of sex chromosome abnormalities do not survive to term. Autosomal trisomies and an extra X-chromosome in males (47,XXY) were associated with an advanced maternal age, whereas monosomy X as well as polyploidy changes seems to be inversely related to the age of the mother. The single most common aberration was trisomy 16, which was found in 14% of the chromosomally abnormal abortions.
众所周知，很大一部分孕早期自然流产是由染色体异常引起的。本研究提供了独特的样本材料，且核型分析成功率很高。
呈现了对瑞典乌普萨拉郡连续304例孕早期流产中的259例进行绒毛取样后的染色体分析结果。
61%的病例发现有异常核型。常染色体三体最为常见（在核型分析样本中占37%），其次是多倍体（9%）和X单体（6%）。额外性染色体病例约占核型分析流产病例的5%，其中47,XXY频率显著较高（3.4%），约为活产中克兰费尔特综合征患病率的40倍。与常染色体异常相似，目前的发现表明大多数性染色体异常无法存活至足月。常染色体三体以及男性额外的X染色体（47,XXY）与母亲年龄较大有关，而X单体以及多倍体变化似乎与母亲年龄呈负相关。最常见的单一畸变是16三体，在染色体异常的流产病例中占14%。
