PDF(Pubmed)
Abstract：
BACKGROUND: In this register-based study of pregnancies in Denmark, we assessed the associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18, trisomy 13, triploidy, monosomy X and other sex chromosome aberrations). Additionally, we aimed to disentangle the maternal age-related effect on fetal aneuploidies by cases with translocation trisomies and mosaicisms.
METHODS: We followed a nationwide cohort of 542 375 singleton-pregnant women attending first trimester screening in Denmark between 2008 and 2017 until delivery, miscarriage or termination of pregnancy. We used six maternal age categories and retrieved information on genetically confirmed aneuploidies of the fetus and infant from the national cytogenetic register.
RESULTS: We confirmed the known associations between advanced maternal age and higher risk of trisomy 21, 18, 13 and other sex chromosome aberrations, especially in women aged ≥35 years, whereas we found no age-related associations with triploidy or monosomy X. Cases with translocation trisomies and mosaicisms did not influence the overall reported association between maternal age and aneuploidies.
CONCLUSIONS: This study provides insight into the accurate risk of fetal aneuploidies that pregnant women of advanced ages encounter.
METHODS: We followed a nationwide cohort of 542 375 singleton-pregnant women attending first trimester screening in Denmark between 2008 and 2017 until delivery, miscarriage or termination of pregnancy. We used six maternal age categories and retrieved information on genetically confirmed aneuploidies of the fetus and infant from the national cytogenetic register.
RESULTS: We confirmed the known associations between advanced maternal age and higher risk of trisomy 21, 18, 13 and other sex chromosome aberrations, especially in women aged ≥35 years, whereas we found no age-related associations with triploidy or monosomy X. Cases with translocation trisomies and mosaicisms did not influence the overall reported association between maternal age and aneuploidies.
CONCLUSIONS: This study provides insight into the accurate risk of fetal aneuploidies that pregnant women of advanced ages encounter.
摘要：
背景：在这项基于注册的丹麦怀孕研究中，我们评估了母亲年龄与胎儿非整倍体风险之间的关联（21三体，18三体，13三体，三倍体，X一体性和其他性染色体畸变)。此外,我们的目的是通过易位三体和镶嵌的病例来解开母亲年龄对胎儿非整倍体的影响。
方法：我们追踪了2008年至2017年间在丹麦进行妊娠早期筛查的542375名单胎孕妇的全国队列，直至分娩。流产或终止妊娠。我们使用了六个母亲年龄类别，并从国家细胞遗传学登记册中检索了有关胎儿和婴儿遗传证实的非整倍体的信息。
结果：我们证实了孕妇高龄与21、18、13三体和其他性染色体畸变的高风险之间的已知关联，尤其是35岁以上的女性，而我们没有发现与三倍体或X单倍体的年龄相关关系。易位三体和镶嵌的病例不影响所报告的产妇年龄和非整倍体之间的总体关联.
结论：这项研究提供了对高龄孕妇胎儿非整倍体的准确风险的见解。
方法：我们追踪了2008年至2017年间在丹麦进行妊娠早期筛查的542375名单胎孕妇的全国队列，直至分娩。流产或终止妊娠。我们使用了六个母亲年龄类别，并从国家细胞遗传学登记册中检索了有关胎儿和婴儿遗传证实的非整倍体的信息。
结果：我们证实了孕妇高龄与21、18、13三体和其他性染色体畸变的高风险之间的已知关联，尤其是35岁以上的女性，而我们没有发现与三倍体或X单倍体的年龄相关关系。易位三体和镶嵌的病例不影响所报告的产妇年龄和非整倍体之间的总体关联.
结论：这项研究提供了对高龄孕妇胎儿非整倍体的准确风险的见解。
