Talk:Genetic risk maternal age

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Cite this page: Hill, M.A. (2021, July 27) Embryology Genetic risk maternal age. Retrieved from


Advanced maternal age and risk of non-chromosomal anomalies: data from a tertiary referral hospital in Turkey

J Matern Fetal Neonatal Med. 2019 Mar;32(5):749-752. doi: 10.1080/14767058.2017.1390741. Epub 2017 Oct 26. Okmen Ozkan B1, Köroğlu N2, Turkgeldi LS2, Cetin BA2, Aslan H3.

The purpose of this study is to determine if there is a relationship between non-chromosomal fetal anomalies of various organ systems and advanced maternal age. MATERIALS AND METHOD: This study was conducted in 387 women aged 20-53 years who underwent fetal karyotype testing due to positive prenatal test results or advanced maternal age at the Kanuni Sultan Süleyman Training and Research Hospital between September 2011 and March 2015. Fetuses with chromosomal anomalies were excluded from the study. The relationship between non-chromosomal anomalies and maternal age of women aged <35 or ≥35 years was studied. RESULTS: More than 80% (81.7%) of non-chromosomal anomalies were detected in patients aged <35 years, and 18.3% were found in those ≥35 years. There were no statistically significant differences found between the incidence of non-chromosomal anomalies in women aged over 35 years and those under 35 years. When congenital major anomalies were evaluated with respect to various organ systems, the risk of musculo-skeletal system anomalies decreased with advancing maternal age. However, there was no statistically significant difference between the <35 and ≥35-year age groups in the incidence of central nervous system, craniofacial, cardiac, gastrointestinal system, urogenital, respiratory, and limb anomalies. CONCLUSION: The incidence of non-chromosomal anomalies does not increase in fetuses of pregnant women aged over 35 years, in contrast to chromosomal anomalies. KEYWORDS: Advanced maternal age; congenital major anomalies; maternal age; non-chromosomal anomalies PMID: 28992718 DOI: 10.1080/14767058.2017.1390741


Epidemiology of chromosomal trisomies in the East of Ireland

J Public Health (Oxf). 2017 Dec 1;39(4):e145-e151. doi: 10.1093/pubmed/fdw087.

McDonnell R1, Monteith C2, Kennelly M3, Martin A4, Betts D5, Delany V1, Lynch SA6, Coulter-Smith S2, Sheehan S4, Mahony R3.


BACKGROUND: Chromosomal trisomies are associated with advancing maternal age. In Ireland, information on the total prevalence and outcome of trisomy affected pregnancies is unavailable. This study aimed to ascertain more precise data on Trisomies 21, 18 and 13 in a large Irish region during the period 2011-2013. METHODS: Multiple information sources were used in case finding, including a regional congenital anomaly register, all maternity and paediatric hospitals in the region and the regional Department of Clinical Genetics. RESULTS: There were 394 trisomy cases from 80 894 total births, of which 289 were Trisomy 21, 75 were Trisomy 18 and 30 were Trisomy 13. The total prevalence rate was 48.9/10 000 births, 35.7, 9.3 and 3.7 for Trisomies 21, 18 and 13, respectively. Over 90% of Trisomies 18/13 and 47% of Trisomy 21 were diagnosed prenatally; 61% of Trisomy 21 cases and nearly 30% of Trisomies 18/13 were live births; 38% all trisomy affected pregnancies ended in a termination. CONCLUSIONS: This study provides precise data on the total prevalence and outcome of trisomy affected pregnancies in the East of Ireland. Total prevalence rates were higher than previously reported. Prenatal diagnosis had a significant impact on outcome. These data provide a better basis for planning of services for live-born children affected by trisomy. © The Author 2016. Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved. For permissions, please e-mail: KEYWORDS: chromosonal disorders; epidemiology; public health


Maternal Age-Specific Rates for Trisomy 21 and Common Autosomal Trisomies in Fetuses from a Single Diagnostic Center in Thailand

PLoS One. 2016 Nov 3;11(11):e0165859. doi: 10.1371/journal.pone.0165859. eCollection 2016.

Jaruthamsophon K1, Sriplung H2, Charalsawadi C1, Limprasert P1.


To provide maternal age-specific rates for trisomy 21 (T21) and common autosomal trisomies (including trisomies 21, 18 and 13) in fetuses. We retrospectively reviewed prenatal cytogenetic results obtained between 1990 and 2009 in Songklanagarind Hospital, a university teaching hospital, in southern Thailand. Maternal age-specific rates of T21 and common autosomal trisomies were established using different regression models, from which only the fittest models were used for the study. A total of 17,819 records were included in the statistical analysis. The fittest models for predicting rates of T21 and common autosomal trisomies were regression models with 2 parameters (Age and Age2). The rate of T21 ranged between 2.67 per 1,000 fetuses at the age of 34 and 71.06 per 1,000 at the age of 48. The rate of common autosomal trisomies ranged between 4.54 per 1,000 and 99.65 per 1,000 at the same ages. This report provides the first maternal age-specific rates for T21 and common autosomal trisomies fetuses in a Southeast Asian population and the largest case number of fetuses have ever been reported in Asians. PMID: 27812158 PMCID: PMC5094691 DOI: 10.1371/journal.pone.0165859


Frequency and distribution of chromosome abnormalities in human oocytes

Kuliev A, Cieslak J, Verlinsky Y. Cytogenet Genome Res. 2005;111(3-4):193-8.

PMID 16192694

"It was previously shown that more than half of the human oocytes obtained from IVF patients of advanced reproductive age are aneuploid, due to meiosis I and meiosis II errors. The present paper further confirms that 61.8% of the oocytes tested by fluorescent probes specific for chromosomes 13, 16, 18, 21 and 22 are abnormal, representing predominantly chromatid errors, which are the major source of aneuploidy in the resulting embryos. Almost half of the oocytes with meiosis I errors (49.3%) are prone to sequential meiosis II errors, which may lead to aneuploidy rescue in 30.8% of the cases."

"The purpose of this study was to find specific rates of aneuploidy in cleavage-stage embryos compared with first trimester data and to evaluate post-zygotic selection against aneuploidy. A total of 2058 embryos were analysed by flurorescence in-situ hybridization (FISH), and specific aneuploidy rates were obtained for 14 chromosomes. Data from morphologically abnormal embryos could be pooled with data from preimplantation genetic diagnosis (PGD) cycles because it was observed that they had similar rates of aneuploidy; thus, for the purpose of studying aneuploidy they could be, and were, pooled. Specific chromosome aneuploidy rates were not related to morphology or development of the embryos. The average maternal age of patients with aneuploid embryos was significantly higher than the overall analysed population. Monosomy appeared more commonly than trisomy. The chromosomes most frequently involved in aneuploidy were (in order) 22, 16, 21 and 15. When compared with first trimester pregnancy data, aneuploidies detected at cleavage stage seem to die in excess of 90% before reaching first trimester, with the exception of chromosome 16 and gonosomes (76% and 14% respectively). Differences in chromosome-specific aneuploidy rates at first trimester conceptions are probably produced by different chromosome-specific aneuploidy rates at cleavage stage and different survival rates to first trimester."


Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy

Hassold T, Chiu D. Hum Genet. 1985;70(1):11-7.

PMID 3997148

Consider using this as a Collapsible table on the trisomy 21 page.

Need to Copy and paste the following text into your wiki's MediaWiki:Common.js and MediaWiki:Common.css:


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The following markup in pages now makes collapsible sections: