Tharapel A T, Tharapel S A, Bannerman R M
Br J Obstet Gynaecol. 1985 Sep;92(9):899-914. doi: 10.1111/j.1471-0528.1985.tb03069.x.
A compilation of the cytogenetic results taken from 79 published surveys of couples with two or more pregnancy losses (comprising 8208 women and 7834 men) showed an overall prevalence of major chromosome abnormalities of 2.9%. This is five to six times higher than that of the general adult population. In every group of chromosome abnormalities in the parents a predominance of female to male affected was noted (2:1). Approximately 50% of all chromosome abnormalities detected were balanced reciprocal translocations, 24% were Robertsonian translocations, 12% were sex chromosomal mosaicisms in females, and the rest consisted of inversions and other sporadic abnormalities. Parents with two or more idiopathic pregnancy losses should be karyotyped to aid in management and counselling. When a translocation or other abnormality (e.g. X chromosomal mosaicism) predisposing to an abnormal zygote is found, prenatal diagnosis is indicated in future pregnancies. Even when parental karyotypes are normal, prenatal diagnosis should be considered in subsequent pregnancies of parents with two or more pregnancy losses because of the high incidence of chromosome abnormalities in spontaneous abortions. For the same reason, if a single previous pregnancy loss is known to have been chromosomally aneuploid, parental karyotypes may have to be examined (depending upon the finding in the pregnancy loss), and prenatal diagnosis should also be considered in subsequent pregnancies.
一项对79项已发表的针对有两次或更多次流产经历的夫妇的调查（涉及8208名女性和7834名男性）的细胞遗传学结果汇编显示，主要染色体异常的总体患病率为2.9%。这比一般成年人群高出五到六倍。在父母的每一组染色体异常中，都发现女性受影响的比例高于男性（2:1）。所有检测到的染色体异常中，约50%为平衡易位，24%为罗伯逊易位，12%为女性性染色体嵌合体，其余为倒位和其他散发性异常。有两次或更多次不明原因流产的父母应进行核型分析，以辅助管理和咨询。当发现易导致异常合子的易位或其他异常（如X染色体嵌合体）时，未来妊娠应进行产前诊断。即使父母核型正常，对于有两次或更多次流产经历的父母，由于自然流产中染色体异常的发生率较高，后续妊娠也应考虑进行产前诊断。出于同样的原因，如果已知之前有一次流产的胎儿染色体非整倍体，可能需要检查父母的核型（取决于流产胎儿的检查结果），后续妊娠也应考虑进行产前诊断。
