Maternal age in the epidemiology of common autosomal trisomies.
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
04 2021
04 2021
Historique:
revised:
04
10
2020
received:
18
08
2020
accepted:
05
10
2020
pubmed:
21
10
2020
medline:
15
12
2021
entrez:
20
10
2020
Statut:
ppublish
Résumé
The birth prevalence rate of each common autosomal trisomy generally increases with advancing maternal age and there is a substantial fetal loss rate between late first trimester and term. The literature is reviewed in order to provide the best estimates of these rates, taking account where possible of biases due to prenatal diagnosis and selective termination of pregnancy. There is an almost exponential increase in Down syndrome birth prevalence between ages 15 and 45 but at older ages the curve flattens. There is no evidence of the claimed relatively high birth prevalence at extremely low ages. Gestation-specific intra-uterine fetal loss rates are estimated by follow-up of women declining termination of pregnancy after prenatal diagnosis, comparison of observed rates with those expected from birth prevalence and comparison of age-specific curves developed for prenatal diagnosis and birth. Down syndrome fetal loss rates reduce with gestation and increase with maternal age. Edwards and Patau syndrome birth prevalence is approximately 1/8 and 1/13 that of Down syndrome overall, although the ratio differs according to maternal age, particularly for Patau syndrome where it reduces steadily from 1/9 to 1/19. Fetal loss rates are higher for Edwards and Patau syndromes than for Down syndrome.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
573-583Informations de copyright
© 2020 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
Hook EB . Chromosomal abnormalities: prevalence, risks and recurrence. In: Brock DJH , Rodeck CH , Ferguson-Smith MA , eds. Prenatal diagnosis and screening. Edinburgh, Scotland: Churchill Livingstone; 1992:351-392.
Penrose LS . The colchester survey: a clinical and genetic study of 1280 cases of mental defect. London, UK: H.M. Stationery Office, Privy Council of Medical Research Council; 1938.
Penrose LS . The relative effect of paternal and maternal age in mongolism. J Genet. 1933;27:219-224.
Cuckle HS , Wald NJ , Thompson SG . Estimating a woman's risk of having a pregnancy associated with Down's syndrome using her age and serum alpha-fetoprotein level. Br J Obstet Gynaecol. 1987;94:387-402.
Hecht CA , Hook EB . The imprecision in rates of Down syndrome by 1-year maternal age intervals: a critical analysis of rates used in biochemical screening. Prenat Diagn. 1994;14(8):729-738.
Hecht CA , Hook EB . Rates of Down syndrome at livebirth by one-year maternal age intervals in studies with apparent close to complete ascertainment in populations of European origin: a proposed rate schedule for use in biochemical screening. Am J Med Genet. 1996;62(4):376-385.
Bray I , Wright DE , Davies CJ , Hook EB . Joint estimation of Down syndrome risk and ascertainment rates: a meta-analysis of nine published data sets. Prenat Diagn. 1998;18(1):9-20.
Morris JK , Alberman E , Mutton D , Jacobs P . Cytogenetic and epidemiological findings in Down syndrome: England and Wales 1989-2009. Am J Med Genet A. 2012;158A(5):1151-1157.
Morris JK , Mutton D , Alberman E . Revised estimates of the maternal age specific live birth prevalence of Down's syndrome. J Med Screen. 2002;9:2-6.
Morris JK , Mutton D , Alberman E . Correction to maternal age specific live birth prevalence of Down's syndrome. J Med Screen. 2005;12(4):202.
Hook EB , Chambers GM . Estimated rates of Down syndrome in live births by one year maternal age intervals for mothers aged 20-49 in a New York State study-implications of the risk figures for genetic counseling and cost-benefit analysis of prenatal diagnosis programs. Birth Defects Orig Artic Ser. 1977;13(3A):123-141.
Hook EB , Fabia JJ . Frequency of Down syndrome in livebirths by single-year maternal age interval: results of a Massachusetts study. Teratology. 1978;17(3):223-228.
Trimble BK , Baird PA . Maternal age and Down syndrome: age-specific incidence rates by single-year intervals. Am J Med Genet. 1978;2(1):1-5.
Hook EB , Lindsjö A . Down syndrome in live births by single year maternal age interval in a Swedish study: comparison with results from a New York State study. Am J Hum Genet. 1978;30(1):19-27.
Huether CA , Gummere GR , Hook EB , et al. Down's syndrome: percentage reporting on birth certificates and single year maternal age risk rates for Ohio 1970-79: comparison with upstate New York data. Am J Public Health. 1981;71(12):1367-1372.
Lindsten J , Marsk L , Berglund K , et al. Incidence of Down's syndrome in Sweden during the years 1968-1977. Hum Genet Suppl. 1981;2:195-210.
Koulischer L , Gillerot Y , Lefevre M , Lamy M , Mancuso S . Down syndrome: prenatal diagnosis and incidence at birth. A 20-year study in Belgium (1971-1990). Poster No. 1475 presented at the International Conference of Human Genetics; 1991.
Staples AJ , Sutherland GR , Haan EA , Clisby S . Epidemiology of Down syndrome in South Australia, 1960-89. Am J Hum Genet. 1991;49:1014-1024.
Halliday JL , Watson LF , Lumley J , Danks DM , Sheffield LJ . New estimates of Down syndrome risks at chorionic villus sampling, amniocentesis, and livebirth in women of advanced maternal age from a uniquely defined population. Prenat Diagn. 1995;15(5):455-465.
Morris JK , De Vigan C , Mutton DE , Alberman E . Risk of a Down syndrome live birth in women 45 years of age and older. Prenat Diagn. 2005;25(4):275-278.
Erickson JD . Down's syndrome, paternal age, maternal age and birth order. Ann Hum Genet. 1978;41:289-298.
Hook EB , Topol BB , Cross PK . The natural history of cytogenetically abnormal fetuses detected at midtrimester amniocentesis which are not terminated electively: new data and estimates of the excess and relative risk of late fetal death associated with 47,+21 and some other abnormal karyotypes. Am J Hum Genet. 1989;45:855-861.
Morris JK , Wald NJ , Watt HC . Fetal loss in Down syndrome pregnancies. Prenat Diagn. 1999;19:142-145.
Won RH , Currier RJ , Lorey F , Towner DR . The timing of demise in fetuses with trisomy 21 and trisomy 18. Prenat Diagn. 2005;25(7):608-611.
Snijders RJM , Holzgreve W , Cuckle H , Nicolaides KH . Maternal age-specific risks for trisomies at 9-14 weeks gestation. Prenat Diagn. 1994;14:543-552.
Snijders RJM , Sebire NJ , Nicolaides KH . Maternal age and gestational age-specific risk for chromosomal defects. Fetal Diagn Ther. 1995;10:356-367.
Snijders RJ , Sundberg K , Holzgreve W , et al. Maternal age- and gestation-specific risk for trisomy 21. Ultrasound Obstet Gynecol. 1999;13(3):167-170.
Macintosh MC , Wald NJ , Chard T , et al. Selective miscarriage of Down's syndrome fetuses in women aged 35 years and older. Br J Obstet Gynaecol. 1995;102(10):798-801.
Bray IC , Wright DE . Estimating the spontaneous loss of Down syndrome fetuses between the time of chorionic villus sampling and livebirth. Prenat Diagn. 1998;18(10):1045-1054.
Smith-Bindman R , Chu P , Bacchetti P , Waters JJ , Mutton D , Alberman E . Prenatal screening for Down syndrome in England and Wales and population-based birth outcomes. Am J Obstet Gynecol. 2003;189(4):980-985.
Nybo Andersen AM , Wohlfahrt J , Christens P , Olsen J , Melbye M . Maternal age and fetal loss, population based register linkage study. Br Med J. 2000;320:1708-1712.
Cuckle HS . Multianalyte maternal serum screening for chromosomal abnormalities and neural tube defects. In: Milunsky A , Milunsky JM , eds. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 8th ed. Hoboken, NJ: Wiley-Blackwell; 2020.
Savva GM , Morris JK , Mutton DE , Alberman E . Maternal age-specific fetal loss rates in Down syndrome pregnancies. Prenat Diagn. 2006;26(6):499-504.
Cuckle H , Aitken D , Goodburn S , et al. Age-standardisation when target setting and auditing performance of Down syndrome screening programmes. Prenat Diagn. 2004;24(11):851-856.
Hook EB , Hammerton JL . The frequency of chromosome abnormalities detected in consecutive newborn studies, differences between studies, results by sex and severity of phenotypic involvement. In: Hook EB , Porter IH , eds. Population Cytogenetics. Studies in Humans. New York, NY: Academic Press; 1977:63-79.
Maeda T , Ohno M , Matsunobu A , Yoshihara K , Yabe N . A cytogenetic survey of 14,835 consecutive liveborns. Jinrui Idengaku Zasshi. 1991;36(1):117-129.
Nielsen J , Wohlert M . Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87(1):81-83.
Savva GM , Walker J , Morris JK . The maternal age-specific live birth prevalence of trisomies 13 and 18 compared to trisomy 21 (Down syndrome). Prenat Diagn. 2010;30(1):57-64.
Morris JK , Savva GM . The risk of feta loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2008;146A:827-832.
Benn PA . Prenatal diagnosis of chromosomal abnormalities through chorionic villus sampling and amniocentesis. In: Milunsky A , Milunsky JM , eds. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. 8th ed. Hoboken, NJ: Wiley-Blackwell; 2020.
Wyllie JP , Wright MJ , Burn J , Hunter S . Natural history of trisomy 13. Arch Dis Child. 1994;71(4):343-345.
Embleton ND , Wyllie JP , Wright MJ , Burn J , Hunter S . Natural history of trisomy 18. Arch Dis Child. 1996;75:F38-F41.
Lakovschek IC , Streubel B , Ulm B . Natural outcome of trisomy 13, trisomy 18, and triploidy after prenatal diagnosis. Am J Med Genet A. 2011;155A(11):2626-2633.
Burke AL , Field K , Morrison JJ . Natural history of fetal trisomy 18 after prenatal diagnosis. Arch Dis Child Fetal Neonatal Ed. 2013;98(2):F152-F154.
Barry SC , Walsh CA , Burke AL , McParland P , McAuliffe FM , Morrison JJ . Natural history of fetal trisomy 13 after prenatal diagnosis. Am J Med Genet A. 2015;167A(1):147-150.
Cavadino A , Morris JK . Revised estimates of the risk of fetal loss following a prenatal diagnosis of trisomy 13 or trisomy 18. Am J Med Genet A. 2017;173(4):953-958.
Henderson SA , Edwards RG . Chiasma frequency and maternal age in mammals. Nature. 1968;218:22-28.
Eichenlaub-Ritter U . Genetics of oocyte ageing. Maturitas. 1998;30:143-169.
Ayme S , Lippman-Hand A . Maternal-age effect in aneuploidy: does altered embrionic selection play role? Am J Hum Genet. 1982;34:558-565.
Kline J , Levin B . Trisomy and age at menopause: predicted associations given a link with rate of oocyte atresia. Paediatr Perinat Epidemiol. 1992;6(2):225-239.
Hassold T , Merrill M , Adkins K , Freeman S , Sherman S . Recombination and maternal age-dependent nondisjunction: molecular studies of trisomy 16. Am J Hum Genet. 1995;57(4):867-874.
Benn P , Grati FR . Aneuploidy in first trimester chorionic villi and spontaneous abortions: windows into the origin and fate of aneuploidy through embryonic and fetal development [published online ahead of print, 2020 Jul 16. Prenat Diagn. 2020. https://doi.org/10.1002/pd.5795
McCoy RC , Demko ZP , Ryan A , et al. Evidence of selection against complex mitotic-origin aneuploidy during preimplantation development. PLoS Genet. 2015;11(10):e1005601.
Cuckle H , Benn P . Review of epidemiological factors (other than maternal age) that determine the prevalence of common autosomal trisomies. Prenat Diagn. 2020; https://doi.org/10.1002/pd.5822. [Online ahead of print].
Schuring-Blom GH , Boer K , Leschot NJ . A placental diploid cell line is not essential for ongoing trisomy 13 or 18 pregnancies. Eur J Hum Genet. 2001;9(4):286-290.