Klinik und Poliklinik für Geburtshilfe und Frauengesundheit, Universitätsmedizin der Johannes Gutenberg Universität Mainz, Mainz, Germany.
Kinderwunschzentrum der Universitätsmedizin der Johannes Gutenberg Universität Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.
Arch Gynecol Obstet. 2021 Jun;303(6):1425-1432. doi: 10.1007/s00404-020-05859-x. Epub 2020 Nov 19.
Early pregnancy loss leads to a devastating situation for many couples. Genetic disorders found in the pregnancy tissue are a frequent cause of miscarriages. It is unclear whether maternal age or previous miscarriages are associated with a higher chromosomal anomaly rate. This study aimed to determine the cytogenetical distribution of chromosomal disorders in couples after one or more previous miscarriages as well as the influence of maternal age.
406 fetal tissue samples obtained after spontaneous abortion between 2010 and 2014 were successfully karyotyped. This included 132 couples with at least two losses and 274 couples with sporadic miscarriage. Normal and abnormal karyotype rate was determined for age, parity, gravidity, gestational week and number of previous miscarriages by logistic regression analysis.
145 (35.71%) fetal tissue samples had a normal karyotype, and 261 (64.8%) did not. After adjusting for age, older patients have a statistically significantly higher probability of genetic disorders in the pregnancy tissue (p < 0.001, OR 1.064, 95% CI 1.03-1.11). With each additional year, the probability of finding chromosomal abnormalities in a miscarriage increased by 6.4%. Patients younger than 35 years have a lower probability of having chromosomal disorders in the aborted material after two or more miscarriages than after sporadic miscarriages (50.7 vs. 58.9%) (p = 0.014, OR 0.67, 95% CI 0.48-0.914). Nevertheless, the risk of embryonic chromosomal disorders in patients aged 35 and above increased from 75.5% in sporadic miscarriages to 82.4% after more than one pregnancy losses (p = 0.59, OR 1.14, 95% CI - 0.72 to 1.92).
Chromosomal disorders found after one or more previous miscarriages are related to patients' age. Couples suffering two or more miscarriages should be further researched, especially in younger patients.
早期妊娠丢失会给许多夫妇带来毁灭性的后果。妊娠组织中发现的遗传疾病是导致流产的常见原因。目前尚不清楚母亲年龄或先前流产是否与更高的染色体异常率有关。本研究旨在确定一对夫妇在经历一次或多次自然流产后妊娠组织中染色体异常的细胞遗传学分布情况，以及母体年龄的影响。
2010 年至 2014 年期间，对 406 例自然流产的胎儿组织样本进行了成功的核型分析。其中包括 132 对至少有两次流产的夫妇和 274 对偶发性流产的夫妇。通过逻辑回归分析，确定年龄、产次、孕次、孕周和先前流产次数与正常核型和异常核型率的关系。
145 例（35.71%）胎儿组织样本核型正常，261 例（64.8%）异常。调整年龄后，年龄较大的患者妊娠组织发生遗传疾病的概率显著更高（p<0.001，OR 1.064，95%CI 1.03-1.11）。每增加 1 岁，流产中发现染色体异常的概率增加 6.4%。年龄小于 35 岁的患者在两次或更多次流产后发生染色体异常的概率低于偶发性流产（50.7%比 58.9%）（p=0.014，OR 0.67，95%CI 0.48-0.914）。然而，35 岁及以上患者的胚胎染色体异常风险从偶发性流产的 75.5%增加到一次以上妊娠丢失的 82.4%（p=0.59，OR 1.14，95%CI-0.72 至 1.92）。
一次或多次自然流产后发现的染色体异常与患者年龄有关。应进一步研究经历两次或更多次流产的夫妇，尤其是年轻患者。
