母亲年龄与胎儿性染色体非整倍体之间的相关性：中国一家机构的8年经验
The correlation between maternal age and fetal sex chromosome aneuploidies: a 8-year single institution experience in China.
作者信息
Li Hongge, Mao Yuchan, Jin Jinglei
机构信息
Women's Hospital, School of Medicine, Zhejiang University, 1, Xueshi Road, Hangzhou, Zhejiang, 310006, People's Republic of China.
出版信息
Mol Cytogenet. 2021 May 10;14(1):25. doi: 10.1186/s13039-021-00545-2.
BACKGROUND
Although a few studies have investigated a possible association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of these studies were limited to advanced maternal age (AMA) women and the results were conflicting. This study aimed to investigate the correlation between maternal age and common fetal SCAs (including 45,X, 47,XXY, 47,XXX and 47,XYY) in pregnant women of different ages that not only limited to AMA women. We retrospectively investigated a 8-year experience of prenatal diagnosis for fetal chromosome aberrations by second-trimester amniocentesis at a university teaching hospital in China. 20,409 amniotic fluid specimens collected at 19-22 gestational weeks were included in this study. The women were categorized into five age groups (≤ 23, 24-28, 29-33, 34-38, 39 years) based on maternal age at the time of amniocentesis and entered as a categorical variable in all samples. The correlation between fetal SCAs and maternal age was determined using the logistic regression analysis. A chi-square test was performed to compare the incidence of fetal SCAs among age groups.
RESULTS
A total of 179 cases of fetal SCAs were detected, and the incidence was 8.77‰ (about 1/114). The incidence of fetal SCAs increased significantly with advancing maternal age (SE, 0.014; odds ratio, 1.044; P = 0.002). Specifically, the incidence of 45,X (SE, 0.037; odds ratio, 0.916; P = 0.017) and 47,XXY (SE, 0.024; odds ratio, 1.127; P = 0.000) had significant correlation with maternal age, while the incidence of 47,XXX and 47,XYY had no correlation with maternal age (P = 0.473; P = 0.272, respectively). The incidence of fetal SCAs was also significantly different among age groups (χ = 10.197, P = 0.037 < 0.05), from 5.81 per 1000 fetuses at the 24-28 years to 10.92 per 1000 at the 39 years.
CONCLUSIONS
Maternal age was ascertained to be a strong risk factor for fetal SCAs.
背景
尽管有一些研究调查了母亲年龄与胎儿性染色体非整倍体（SCA）之间可能存在的关联，但这些研究大多局限于高龄产妇（AMA），且结果相互矛盾。本研究旨在调查不同年龄孕妇（不仅限于AMA孕妇）的母亲年龄与常见胎儿SCA（包括45,X、47,XXY、47,XXX和47,XYY）之间的相关性。我们回顾性研究了中国一所大学教学医院通过孕中期羊膜腔穿刺术进行胎儿染色体畸变产前诊断的8年经验。本研究纳入了在孕19 - 22周收集的20409份羊水标本。根据羊膜腔穿刺时的母亲年龄，将这些女性分为五个年龄组（≤23岁、24 - 28岁、29 - 33岁、34 - 38岁、39岁），并作为分类变量纳入所有样本。使用逻辑回归分析确定胎儿SCA与母亲年龄之间的相关性。进行卡方检验以比较各年龄组胎儿SCA的发生率。
结果
共检测到179例胎儿SCA，发生率为8.77‰（约1/114）。胎儿SCA的发生率随母亲年龄的增加而显著升高（标准误，0.014；比值比，1.044；P = 0.002）。具体而言，45,X的发生率（标准误，0.037；比值比，0.916；P = 0.017）和47,XXY的发生率（标准误，0.024；比值比，1.127；P = 0.000）与母亲年龄有显著相关性，而47,XXX和47,XYY的发生率与母亲年龄无相关性（分别为P = 0.473；P = 0.272）。各年龄组胎儿SCA的发生率也存在显著差异（χ = 10.197，P = 0.037 < 0.05），从24 - 28岁组每1000例胎儿中的5.81例到39岁组每1000例中的10.92例。
结论
确定母亲年龄是胎儿SCA的一个重要危险因素。
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