TY - JOUR

T1 - Maternal age and the risk of fetal aneuploidy

T2 - A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017

AU - Elmerdahl Frederiksen, Line

AU - Ølgaard, Sofie Møller

AU - Roos, Laura

AU - Petersen, Olav Bjørn

AU - Rode, Line

AU - Hartwig, Tanja

AU - Ekelund, Charlotte Kvist

AU - Vogel, Ida

N1 - Publisher Copyright: © 2023 The Authors. Acta Obstetricia et Gynecologica Scandinavica published by John Wiley & Sons Ltd on behalf of Nordic Federation of Societies of Obstetrics and Gynecology (NFOG).

PY - 2024

Y1 - 2024

N2 - 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.

AB - 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.

KW - aneuploidy

KW - genetic risk factors

KW - maternal age

KW - numeric chromosomal anomalies

KW - pregnancy risk

KW - sex chromosome aberrations

KW - triploidy

KW - trisomy

U2 - 10.1111/aogs.14713

DO - 10.1111/aogs.14713

M3 - Journal article

C2 - 37986093

AN - SCOPUS:85177186728

VL - 103

SP - 351

EP - 359

JO - Acta Obstetricia et Gynecologica Scandinavica

JF - Acta Obstetricia et Gynecologica Scandinavica

SN - 0001-6349

IS - 2

ER -