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. 2024 Feb;103(2):351-359.
doi: 10.1111/aogs.14713. Epub 2023 Nov 20.

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

Line Elmerdahl Frederiksen  1 , Sofie Møller Ølgaard  2 , Laura Roos  3 , Olav Bjørn Petersen  4   5 , Line Rode  4 , Tanja Hartwig  6 , Charlotte Kvist Ekelund  4   5 ; Danish Central Cytogenetics Registry Study Group; Ida Vogel  2   7
Affiliations

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

Line Elmerdahl Frederiksen et al. Acta Obstet Gynecol Scand. 2024 Feb.

Abstract

Introduction: 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.

Material and 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.

Conclusion: This study provides insight into the accurate risk of fetal aneuploidies that pregnant women of advanced ages encounter.

Keywords: aneuploidy; genetic risk factors; maternal age; numeric chromosomal anomalies; pregnancy risk; sex chromosome aberrations; triploidy; trisomy.

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Conflict of interest statement

None of the authors have any conflicts of interest to report.

Figures

FIGURE 1
FIGURE 1
Probabilities of aneuploidies in singleton pregnancies by maternal ages.
FIGURE 2
FIGURE 2
Probabilities (%) of specific aneuploidies by maternal ages.
See this image and copyright information in PMC

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