Hook E B, Cross P K, Schreinemachers D M
JAMA. 1983 Apr 15;249(15):2034-8.
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.
在近期大规模产前细胞遗传学研究中，对六种不同类型细胞遗传学异常的回归平滑孕产妇年龄别发生率，乘以独立得出的胎儿选择系数（用于调整细胞遗传学异常胎儿自然丢失的额外可能性的因素），以获得活产婴儿中这些类型细胞遗传学异常的估计孕产妇年龄别发生率。得出的发生率适用于唯一风险因素为孕产妇年龄偏大的女性。分析的类型包括47，+21（唐氏综合征）、47，+18（爱德华兹综合征）、47，+13（帕陶氏综合征）、47，XXY（克兰费尔特综合征）、47，XXX，以及综合考虑的其他具有临床意义的异常组。本研究得出的所有综合考虑的具有临床意义的异常发生率在35岁时约为每1000例中有5例，40岁时为每1000例中有15例，45岁时为每1000例中有50例。
