University Hospital Split, Paediatric Clinic, Spinciceva 1, Split, Croatia.
Eur J Obstet Gynecol Reprod Biol. 2012 Apr;161(2):182-6. doi: 10.1016/j.ejogrb.2011.12.027. Epub 2012 Jan 26.
The etiology of recurrent spontaneous abortions (RSA) in chromosomally normal parents is still unexplained. It is unclear whether or not some factors, such as spontaneous abortions (SA), which occur among extended family members can create a predisposition to RSA. Therefore, this study comprises two parts: (a) an epidemiological part, to evaluate the relationship between RSA in 567 couples and the frequency of SA among their first (I), second (II) and third (III) generation relatives, and (b) a genetic part, investigating whether parental and fetal chromosomal status may predispose to the occurrence of RSA.
Couples (567) having one or more SA were analyzed in this retrospective case-control study. The family reproductive history data was collected from their medical charts.
The total number of SA found in 567 couples was 1174, and the largest number occurred at 8-10 weeks of gestation. The majority of spouses had normal karyotypes (88.5% and 91%). Of the remainder, 65% of females and 76% of males expressed constitutional chromosomal variation, mostly pericentric inversion of chromosome 9. Cytogenetic analysis of aborted material showed some type of change in 40% of cases. The family reproductive history data indicated that SA among the couples' I, II and III generation relatives happened with a frequency two to three times higher than that of the general population (55.5, 47.6 and 32.6% for female relatives, and 45.8, 44.1 and 15.1% for male relatives).
Positive reproductive family history for SA might be the causal factor for RSA and can also predetermine women that are of greater susceptibility to preterm pregnancy.
染色体正常的父母发生复发性自然流产(RSA)的病因仍未阐明。目前尚不清楚是否有一些因素,如扩展家族成员中发生的自然流产(SA),是否会产生 RSA 的倾向。因此,本研究包括两部分:(a)流行病学部分,评估 567 对夫妇中 RSA 与第一代(I)、第二代(II)和第三代(III)亲属中 SA 的频率之间的关系,以及(b)遗传部分,调查父母和胎儿染色体状况是否可能导致 RSA 的发生。
在这项回顾性病例对照研究中分析了 567 对有一次或多次 SA 的夫妇。从他们的病历中收集了家族生殖史数据。
在 567 对夫妇中发现的总 SA 数为 1174,最大数量发生在 8-10 孕周。大多数配偶的核型正常(88.5%和 91%)。其余的,65%的女性和 76%的男性表达了染色体的结构变异,主要是 9 号染色体的着丝粒周围倒位。流产材料的细胞遗传学分析显示 40%的病例有某种类型的变化。家族生殖史数据表明,夫妇的 I、II 和 III 代亲属中的 SA 发生率是普通人群的两到三倍(女性亲属为 55.5%、47.6%和 32.6%,男性亲属为 45.8%、44.1%和 15.1%)。
SA 的阳性生殖家族史可能是 RSA 的因果因素,也可以预先确定女性更容易发生早产。