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随着母亲年龄增长,21三体妊娠选择性流产增加的细胞遗传学证据。

Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age.

作者信息

Kratzer P G, Golbus M S, Schonberg S A, Heilbron D C, Taylor R N

机构信息

Department of Obstetrics, Gynecology, and Reproductive Sciences, University of California, San Francisco 94143-0132.

出版信息

Am J Med Genet. 1992 Nov 15;44(5):657-63. doi: 10.1002/ajmg.1320440526.

DOI:10.1002/ajmg.1320440526
PMID:1481829
Abstract

The effect of advancing maternal age on the risk of death of fetuses with certain chromosome abnormalities has been tested by comparing their frequency at the time of chorionic villus sampling (CVS) with that at amniocentesis. The frequency of chromosome abnormalities among women whose sole risk factor for a chromosome abnormality was advanced maternal age (> or = 35 years old) was determined in a pooled group of 15,147 CVS cases, of whom > 1/3 were from the initial 7,500 CVS cases at the University of California, San Francisco, and compared with a pooled group of 74,851 amniocentesis cases collected from the literature. The frequency of trisomy 21 not only increased with advancing maternal age as expected, but the slope of the increase was about 25% greater in the CVS group than in the amniocentesis group (P = 0.08 for the difference in slopes by a logistic statistical model and P = 0.04 by a normit model). Similar patterns were seen for trisomies 18 and 13, but the P values for the differences in slopes were much higher. These results suggest that the miscarriage rate of trisomy 21 during the gestational interval studied is selectively greater with advancing maternal age. The basis for the enhanced selective loss of trisomy 21 with maternal age may be a reduced ability of the ageing "maternal compartment" to compensate for abnormal conceptuses.

摘要

通过比较绒毛取样(CVS)时与羊膜穿刺术时某些染色体异常胎儿的死亡风险,研究了孕妇年龄增长的影响。在一个由15147例CVS病例组成的汇总组中,确定了仅因孕妇年龄增长(≥35岁)这一染色体异常风险因素的女性中染色体异常的频率,其中超过1/3来自加利福尼亚大学旧金山分校最初的7500例CVS病例,并与从文献中收集的74851例羊膜穿刺术病例的汇总组进行比较。21三体的频率不仅如预期那样随着孕妇年龄的增长而增加,而且CVS组的增加斜率比羊膜穿刺术组大约高25%(逻辑统计模型分析斜率差异的P值为0.08,正态模型分析的P值为0.04)。18三体和13三体也观察到类似模式,但斜率差异的P值要高得多。这些结果表明,在所研究的妊娠期内,21三体的流产率随孕妇年龄增长而选择性地更高。随着孕妇年龄增长,21三体选择性丢失增加的原因可能是衰老的“母体环境”补偿异常孕体的能力下降。

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Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age.随着母亲年龄增长,21三体妊娠选择性流产增加的细胞遗传学证据。
Am J Med Genet. 1992 Nov 15;44(5):657-63. doi: 10.1002/ajmg.1320440526.
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Genes (Basel). 2024 Jun 13;15(6):778. doi: 10.3390/genes15060778.
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Functional approaches to the study of G-protein-coupled receptors in postmortem brain tissue: [S]GTPγS binding assays combined with immunoprecipitation.功能方法研究死后脑组织中的 G 蛋白偶联受体:[S]GTPγS 结合测定法结合免疫沉淀。
Pharmacol Rep. 2021 Aug;73(4):1079-1095. doi: 10.1007/s43440-021-00253-z. Epub 2021 Apr 20.
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Maternal age-specific risk for trisomy 21 based on the clinical performance of NIPT and empirically derived NIPT age-specific positive and negative predictive values in Japan.
基于日本 NIPT 的临床性能以及经验推导的 NIPT 年龄特异性阳性和阴性预测值,得出的 21 三体综合征的母体年龄特异性风险。
J Hum Genet. 2018 Oct;63(10):1035-1040. doi: 10.1038/s10038-018-0453-8. Epub 2018 May 30.
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Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical Cytogeneticists.1989年至1993年英格兰和威尔士唐氏综合征的细胞遗传学与流行病学研究结果。国家唐氏综合征细胞遗传学登记处及临床细胞遗传学家协会。
J Med Genet. 1996 May;33(5):387-94. doi: 10.1136/jmg.33.5.387.