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

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Summary

The effect of maternal age on the incidence of chromosomally normal spontaneous abortion and different categories of chromosome abnormality among all clinically recognized human pregnancies was evaluated. The results provide no evidence for a significant association of age with sex chromosome monosomy or polyploidy, but clearly demonstrate an effect of age on the frequency of trisomy and chromosomally normal spontaneous abortions. Estimated maternal age-specific rates of trisomy among all recognized pregnancies were calculated and suggest that a majority of oocytes of women aged 40 years and older may be aneuploid.

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References

  • Ayme S, Lippman-Hand A (1982) Maternal-age effect in aneuploidy: Does altered embryonic selection play a role? Am J Hum Genet 34:558–565

    PubMed  Google Scholar 

  • Bierman J, Siegel E, French F, Simonian K (1965) Analysis of the outcome of all pregnancies in a community: Kauai pregnancy study. Am J Obstet Gynecol 91:37–45

    PubMed  Google Scholar 

  • Carothers AD, Collyer S, de Mey R, Frackiewicz A (1978) Parental age and birth order in the aetiology of some sex chromosome aneuploidies. Ann Hum Genet 41:277–287

    PubMed  Google Scholar 

  • Ferguson-Smith MA (1979) Group report: Maternal age-specific incidence of chromosome aberrations at amniocentesis. In: Murken J-D, Stengel-Rutkowski S, Schwinger E (eds) Prenatal diagnosis. Enke, Stuttgart, pp 1–14

    Google Scholar 

  • Hassold T, Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18:69–97

    PubMed  Google Scholar 

  • Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA, Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44:151–178

    PubMed  Google Scholar 

  • Hassold T, Warburton D, Kline J, Stein Z (to be published) The relationship of maternal age and trisomy among trisomic spontaneous abortions. Am J Hum Genet

  • Hook EB (1981a) Down syndrome: Its frequency in human populations and some factors pertinent to variation in rates. In: de la Cruz F, Gerald P (eds) Trisomy 21 (Down syndrome) — Research perspectives. University Park Press, Baltimore, pp 3–67

    Google Scholar 

  • Hook EB (1981b) Rates of chromosome abnormalities at different maternal ages. Obstet Gynecol 58:282–285

    PubMed  Google Scholar 

  • Hook EB (1981c) Prevalence of chromosome abnormalities during human gestation and implications for studies of environmental mutagens. Lancet II:169–172

    Article  Google Scholar 

  • Hook EB, Cross P, Schreinemachers D (1983) Chromosomal abnormality rates at amniocentesis and in live-born infants. JAMA 249:2034–2038

    PubMed  Google Scholar 

  • Jacobs P (1975) The load due to chromosome abnormalities in man. In: Salzano FM (ed) The role of natural selection in human evolution. North Holland Publishing Company, Amsterdam, pp 337–353

    Google Scholar 

  • Kajii T, Ferrier A, Niikawa N, Takahara H, Ohama K, Avirachan S (1980) Anatomic and chromosomal anomalies in 639 spontaneous abortuses. Hum Genet 55:87–98

    PubMed  Google Scholar 

  • Lauritsen J (1976) Aetiology of spontaneous abortion: A cytogenetic and epidemiological study of 288 abortuses and their parents. Acta Obstet Gynecol Scand [Suppl] 52:1–29

    Google Scholar 

  • Magenis RE, Hecht F, Milham S (1968) Trisomy 13 (D) syndrome: Studies on parental age, sex ratio and survival. J Pediatr 73:222–228

    PubMed  Google Scholar 

  • Miller JF, Williamson E, Glue J, Gordon YB, Grudzinskas JG, Sykes A (1980) Fetal loss after implantation. Lancet II:626–630

    Google Scholar 

  • Stein Z, Kline J, Susser E, Shrout P, Warburton D, Susser M (1980) Maternal age and spontaneous abortion. In: Porter IH, Hook EB (eds) Human embryonic and fetal death. Academic Press, New York, pp 107–127

    Google Scholar 

  • Takahara H, Ohama K, Fujiwara A (1977) Cytogenetic study in early spontaneous abortion. Hiroshima J Med Sci 26:291–296

    PubMed  Google Scholar 

  • Taylor AI (1968) Autosomal trisomy syndromes: A detailed study of 27 cases of Edward's syndrome and 27 cases of Patu's syndrome. J Med Genet 5:227–252

    PubMed  Google Scholar 

  • Uchida I, Freeman V, Gedeon M, Goldmaker J (1983) Twinning rate in spontaneous abortions. Am J Hum Genet 35:987–993

    PubMed  Google Scholar 

  • Warburton D, Fraser FC (1964) Spontaneous abortion risks in man: Data from reproductive histories collected in a Medical Genetics Unit. Am J Hum Genet 16:1–27

    PubMed  Google Scholar 

  • Warburton D, Kline J, Stein Z, Susser M (1980) Monosomy X: A chromosomal anomaly associated with young maternal age. Lancet I:167–169

    Article  Google Scholar 

  • Warburton D, Stein Z, Kline J (1983) In utero selection against fetuses with trisomy. Am J Hum Genet 35:1059–1064

    PubMed  Google Scholar 

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Hassold, T., Chiu, D. Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 70, 11–17 (1985). https://doi.org/10.1007/BF00389450

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  • DOI: https://doi.org/10.1007/BF00389450

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