Tianjin Medical University, Tianjin, China.
Department of Gynecologic Oncology, Central Clinical College of Gynecology and Obstetrics, Tianjin Medical University, Tianjin, China.
Cytogenet Genome Res. 2021;161(3-4):120-131. doi: 10.1159/000514088. Epub 2021 May 11.
In the present study, we retrospectively recruited 340 patients who underwent spontaneous abortions to investigate chromosomal abnormalities of the conception products in the first trimester. We also performed a relevant analysis of clinical factors. Of these patients, 165 had conception products with chromosomal abnormalities, including 135 aneuploidies, 11 triploidies, 10 complex abnormalities, and 9 segmental aneuploidies. The most common abnormal chromosomes were chromosome 16 in the embryo-transfer group and sex chromosomes in the natural-conception group. The most common abnormal chromosomes in all analyzed maternal age groups were sex chromosomes, 16, and 22. The chromosomal abnormality incidence was related to age and number of spontaneous abortions (both p < 0.05), but not to number of pregnancies, deliveries, induced abortions, or methods of conception (all p > 0.05). The rates of abnormality for chromosomes 12, 15, 20, and 22 increased with age, while the rates for chromosomes 6, 7, 13, and X decreased. In all age groups, aneuploidy was by far the most common abnormality; however, the low-incidence distributions of chromosomal abnormalities were entirely different. Overall, chromosomal aneuploidy was the primary cause of pregnancy loss in the first trimester, and low-frequency abnormalities differed across age subgroups. Chromosomal aberrations were found to be related to maternal age and spontaneous abortion, but not all chromosomal abnormalities increased with age.
在本研究中,我们回顾性招募了 340 名自然流产患者,以研究其孕早期胚胎产物的染色体异常情况,并对相关临床因素进行了分析。这些患者中,165 名患者的胚胎产物存在染色体异常,包括 135 例非整倍体、11 例三倍体、10 例复杂异常和 9 例片段性非整倍体。在胚胎移植组中最常见的异常染色体为 16 号染色体,而在自然受孕组中最常见的异常染色体为性染色体。在所有分析的年龄组中,最常见的异常染色体均为性染色体、16 号和 22 号染色体。染色体异常的发生率与年龄和自然流产次数有关(均 p < 0.05),但与妊娠次数、分娩次数、人工流产次数和受孕方式无关(均 p > 0.05)。染色体 12、15、20 和 22 的异常率随年龄增长而增加,而染色体 6、7、13 和 X 的异常率则降低。在所有年龄组中,非整倍体是最常见的异常类型;然而,不同年龄组的低频异常分布完全不同。总的来说,染色体非整倍体是孕早期妊娠丢失的主要原因,且低频异常在不同年龄亚组中的分布情况存在差异。染色体异常与母亲年龄和自然流产有关,但并非所有染色体异常都随年龄增长而增加。