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Chromosomal abnormality rates at amniocentesis and in live-born infants
Abstract
Regression-smoothed maternal age-specific rates of six different categories of cytogenetic abnormalities in recent large-scale prenatal cytogenetic studies were multiplied by independently derived fetal selection coefficients—factors that adjust for the excess likelihood of spontaneous loss of cytogenetically abnormal fetuses—to obtain estimated maternal age-specific rates of these categories of cytogenetic abnormalities in live-born infants. The derived rates apply to women whose only risk factor is advanced maternal age. The categories analyzed were 47,+21 (Down's syndrome), 47,+18 (Edwards' syndrome), 47,+13 (Patau's syndrome), 47,XXY (Klinefelter's syndrome), 47,XXX, and the group of other clinically significant abnormalities considered collectively. The rate of all clinically significant abnormalities considered together derived in this study was about five per 1,000 at age 35 years, 15 per 1,000 at age 40 years, and 50 per 1,000 at age 45 years. (JAMA1983;249:2034-2038)
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Cited by
Advanced Maternal Age — How Old Is Too Old?
Heffner, L. J. (2004) · New England Journal of Medicine · doi:10.1056/nejmp048087 · Cited by 560
Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy
Hassold, T., & Chiu, D. (1985) · Human Genetics · doi:10.1007/bf00389450 · Cited by 481
Baty, B. J., Blackburn, B. L., & Carey, J. C. (1994) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320490204 · Cited by 346
Second-Trimester Ultrasound to Detect Fetuses With Down Syndrome: A Meta-analysis
Smith-Bindman, R., Hosmer, W., Feldstein, V. A., Deeks, J. J., & Goldberg, J. D. (2001) · JAMA · doi:10.1001/jama.285.8.1044 · Cited by 306
Li, Z., Yu, T., Morishima, M., Pao, A., LaDuca, J., Conroy, J., Nowak, N., Matsui, S.-I., Shiraishi, I., & Yu, Y. E. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm086 · Cited by 218
Metadata
- Authors
- Hook, E. B.
- Venue
- JAMA
- Publisher
- American Medical Association
- Published
- 1983-04-15
- Volume
- 249
- Issue
- 15
- Pages
- 2034-2038
- ISSN
- 0002-9955 (ISSN-L)
- OpenAlex
- W4256487141
- Cited by
- 289
- References
- 0
- FWCI
- 3.71
- Type
- journal article
- Language
- en
- Open access
- closed
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