Genetic risk maternal age

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Introduction

Trisomy 21 (Down Syndrome) Male Karyotype

The table below shows the correlation of maternal age (mother's age) and the potential risk of human genetic abnormalities in children.


The first column shows maternal age, the second column shows the most common human chromosomal abnormality, trisomy 21 (Down syndrome), the third column shows all chromosomal abnormalities. The data below are from papers published in the 1980's.[1][2][3]


Interestingly, recent studies suggest that increasing paternal age (father's age) can also have affects on childhood mortality[4] and neurodevelopmental outcomes.[5]


Genetic Links: Introduction | Genetic risk maternal age | Trisomy 21 | Trisomy 18 | Trisomy 13 | Trisomy X | Monosomy | Fragile X | Williams | Alagille | Philadelphia chromosome | Hydatidiform Mole | Prenatal Diagnosis | Neonatal Diagnosis | International Classification of Diseases | Molecular Development - Genetics

Age of Mother
Risk of Down Syndrome
Risk of Any Chromosomal Abnormality
20
1 in 1667
1 in 526
21
1 in 1667
1 in 526
22
1 in 1429
1 in 500
23
1 in 1429
1 in 500
24
1 in 1250
1 in 476
25
1 in 1250
1 in 476
26
1 in 1176
1 in 476
27
1 in 1111
1 in 455
28
1 in 1053
1 in 435
29
1 in 1000
1 in 417
30
1 in 952
1 in 384
31
1 in 909
1 in 384
32
1 in 769
1 in 323
33
1 in 625
1 in 286
34
1 in 500
1 in 238
35
1 in 385
1 in 192
36
1 in 294
1 in 156
37
1 in 227
1 in 127
38
1 in 175
1 in 102
39
1 in 137
1 in 83
40
1 in 106
1 in 66
41
1 in 82
1 in 53
42
1 in 64
1 in 42
43
1 in 50
1 in 33
44
1 in 38
1 in 26
45
1 in 30
1 in 21
46
1 in 23
1 in 16
47
1 in 18
1 in 13
48
1 in 14
1 in 10
49
1 in 11
1 in 8


References

  1. E B Hook Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol: 1981, 58(3);282-5 PubMed 6455611
  2. E B Hook, P K Cross, D M Schreinemachers Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA: 1983, 249(15);2034-8 PubMed 6220164
  3. D M Schreinemachers, P K Cross, E B Hook Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20 000 prenatal studies compared with estimated rates in live births. Hum. Genet.: 1982, 61(4);318-24 PubMed 6891368
  4. Jin Liang Zhu, Mogens Vestergaard, Kreesten M Madsen, Jørn Olsen Paternal age and mortality in children. Eur. J. Epidemiol.: 2008, 23(7);443-7 PubMed 18437509
  5. Sukanta Saha, Adrian G Barnett, Claire Foldi, Thomas H Burne, Darryl W Eyles, Stephen L Buka, John J McGrath Advanced paternal age is associated with impaired neurocognitive outcomes during infancy and childhood. PLoS Med.: 2009, 6(3);e40 PubMed 19278291 | PLoS Medicine


Articles

Emily Graves Allen, Sallie B Freeman, Charlotte Druschel, Charlotte A Hobbs, Leslie A O'Leary, Paul A Romitti, Marjorie H Royle, Claudine P Torfs, Stephanie L Sherman Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum. Genet.: 2009, 125(1);41-52 PubMed 19050929

"We examined the association between maternal age and chromosome 21 nondisjunction by origin of the meiotic error. We analyzed data from two population-based, case-control studies: Atlanta Down Syndrome Project (1989-1999) and National Down Syndrome Project (2001-2004). Cases were live born infants with trisomy 21 and controls were infants without trisomy 21 delivered in the same geographical regions. We enrolled 1,215 of 1,881 eligible case families and 1,375 of 2,293 controls. We report four primary findings. First, the significant association between advanced maternal age and chromosome 21 nondisjunction was restricted to meiotic errors in the egg; the association was not observed in sperm or in post-zygotic mitotic errors. Second, advanced maternal age was significantly associated with both meiosis I (MI) and meiosis II (MII). For example, compared to mothers of controls, mothers of infants with trisomy 21 due to MI nondisjunction were 8.5 times more likely to be >or=40 years old than 20-24 years old at the birth of the index case (95% CI=5.6-12.9). Where nondisjunction occurred in MII, mothers were 15.1 times more likely to be >or=40 years (95% CI = 8.4-27.3). Third, the ratio of MI to MII errors differed by maternal age. The ratio was lower among women <19 years of age and those >or=40 years (2.1, 2.3, respectively) and higher in the middle age group (3.6). Lastly, we found no effect of grand-maternal age on the risk for maternal nondisjunction. This study emphasizes the complex association between advanced maternal age and nondisjunction of chromosome 21 during oogenesis."

A Kuliev, J Cieslak, Y Verlinsky Frequency and distribution of chromosome abnormalities in human oocytes. Cytogenet. Genome Res.: 2005, 111(3-4);193-8 PubMed 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. Half of the detected aneuploidies (49.8%) are of complex nature with involvement of two or more chromosomes, or the same chromosome in both meiotic divisions. The aneuploidy rates for individual chromosomes are different, with a higher prevalence of chromosome 21 and 22 errors. The origin of aneuploidy for the individual chromosomes is also not random, with chromosome 16 and 22 errors originating more frequently in meiosis II, and chromosome 18, 13 and 21 errors in meiosis I. There is an age dependence not only for the overall frequency of aneuploidies, but also for each chromosome error, aneuploidies originating from meiosis I, meiosis II, and both meiosis I and meiosis II errors, as well as for different types of aneuploidies. The data further suggest the practical relevance of oocyte aneuploidy testing for detection and avoidance from transfer of the embryos deriving from aneuploid oocytes, which should contribute significantly to the pregnancy outcomes of IVF patients of advanced reproduction age."

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Cite this page: Hill, M.A. 2017 Embryology Genetic risk maternal age. Retrieved November 18, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/Genetic_risk_maternal_age

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© Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G