Clin Lab. 2020 Apr 1;66(4). doi: 10.7754/Clin.Lab.2019.190649.
Polyploidy is a rare lethal cytogenetic anomaly in pregnancies, generally leading to pregnancy termination. This study aims to compare first and second trimester polyploidy in pregnancies and describe the underlying mechanisms.
A retrospective study was conducted in three medical genetics laboratories, collecting cases from Eastern, Southern, and Western Romania. The period of interest was January 2008 to December 2018. Prenatal samples (chorionic villi and amniotic fluid) and miscarriage samples were tested by standard karyotyping, as well as QF-PCR or FISH as complementary or alternative techniques.
In first trimester pregnancies, we report cytogenetic results of chorionic villi samples from miscarriages: 25 triploid cases and 13 tetraploid cases. In second trimester samples obtained by amniocentesis, cytogenetic findings were positive for 17 triploid cases. Maternal age, age of the pregnancy, and fetal gender identified by ultrasound were recorded in all cases and, additionally, data on biochemical risk and ultrasonographic findings for second trimester pregnancies.
Cytogenetic investigations of spontaneous abortions provide valuable information on the cause of abortion. This information is crucial for genetic counseling and may also contribute to prenatal diagnosis in subsequent pregnancies.
多倍体是妊娠中罕见的致死性细胞遗传学异常，通常导致妊娠终止。本研究旨在比较妊娠的第一和第二 trimester 多倍体，并描述其潜在机制。
在三个医学遗传学实验室进行了一项回顾性研究，从罗马尼亚东部、南部和西部收集病例。研究期间为 2008 年 1 月至 2018 年 12 月。通过标准核型分析对产前样本（绒毛膜和羊水）和流产样本进行检测，同时还使用 QF-PCR 或 FISH 作为补充或替代技术。
在第一 trimester 妊娠中，我们报告了流产绒毛膜样本的细胞遗传学结果：25 例三倍体病例和 13 例四倍体病例。在通过羊膜穿刺术获得的第二 trimester 样本中，细胞遗传学发现 17 例三倍体病例为阳性。在所有病例中都记录了母亲年龄、妊娠年龄和超声识别的胎儿性别，此外还记录了第二 trimester 妊娠的生化风险和超声检查数据。
对自然流产进行细胞遗传学研究可提供有关流产原因的有价值信息。这些信息对于遗传咨询至关重要，也可能为后续妊娠的产前诊断做出贡献。
