Hospital das Clínicas Universidade Federal de Minas Gerais Belo HorizonteMG Brazil Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil.
Rev Bras Ginecol Obstet. 2024 Jun 27;46. doi: 10.61622/rbgo/2024rbgo51. eCollection 2024.
To assess the prevalence and type of chromosomal abnormalities in Brazilian couples with recurrent pregnancy loss (RPL) and compare the clinical characteristics of couples with and without chromosome abnormalities.
We assessed the medical records of 127 couples with a history of two or more miscarriages, referred to a tertiary academic hospital in Belo Horizonte, Brazil, from January 2014 to May 2023. Karyotype was generated from peripheral blood lymphocyte cultures, and cytogenetic analysis was performed according to standard protocols by heat-denatured Giemsa (RHG) banding.
Abnormal karyotypes were detected in 10 couples (7.8%). The prevalence of chromosomal abnormalities was higher among females (6.3%) compared to males (2.0%), but this difference was not statistically significant (p=0.192). The mean number of miscarriages was. 3.3 ± 1.1 in couples with chromosome abnormalities and 3.1 ± 1.5 in couples without chromosome abnormalities (p=0.681). Numerical chromosomal anomalies (6 cases) were more frequent than structural anomalies. Four women presented low-grade Turner mosaicism. No differences were found between couples with and without karyotype alterations, except for maternal age, which was higher in the group with chromosome alterations.
The prevalence of parental chromosomal alterations in our study was higher than in most series described in the literature and was associated with increased maternal age. These findings suggest that karyotyping should be part of the investigation for Brazilian couples with RPL, as identifying the genetic etiology may have implications for subsequent pregnancies.
评估巴西复发性妊娠丢失（RPL）夫妇中染色体异常的发生率和类型，并比较染色体异常夫妇和无染色体异常夫妇的临床特征。
我们评估了 2014 年 1 月至 2023 年 5 月期间，127 对在巴西贝洛奥里藏特的一所三级学术医院就诊的有两次或两次以上流产史的夫妇的病历。通过外周血淋巴细胞培养产生核型，根据热变性吉姆萨（RHG）带的标准方案进行细胞遗传学分析。
在 10 对夫妇（7.8%）中发现了异常核型。与男性（2.0%）相比，女性（6.3%）的染色体异常发生率更高，但差异无统计学意义（p=0.192）。染色体异常夫妇的平均流产次数为 3.3±1.1，无染色体异常夫妇的平均流产次数为 3.1±1.5（p=0.681）。数值染色体异常（6 例）比结构异常更常见。四名女性表现为低级别特纳嵌合体。除了染色体改变组的母亲年龄较高外，染色体改变组和无染色体改变组之间没有发现差异。
在我们的研究中，父母染色体改变的发生率高于大多数文献中描述的系列，且与母亲年龄增加有关。这些发现表明，对于巴西 RPL 夫妇，核型分析应作为检查的一部分，因为确定遗传病因可能对后续妊娠有影响。
