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本文引用的文献

1
Cytogenetic Nomenclature and Reporting.细胞遗传学命名与报告
Methods Mol Biol. 2017;1541:303-309. doi: 10.1007/978-1-4939-6703-2_24.
2
Treatment of the Common Vascular Hemiplegias.常见血管性偏瘫的治疗
Cal West Med. 1938 Sep;49(3):181-2.
3
Klinefelter syndrome and other sex chromosomal aneuploidies.克兰费尔特综合征及其他性染色体非整倍体疾病。
Orphanet J Rare Dis. 2006 Oct 24;1:42. doi: 10.1186/1750-1172-1-42.
4
Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.特纳综合征女性患者的护理:特纳综合征研究组指南
J Clin Endocrinol Metab. 2007 Jan;92(1):10-25. doi: 10.1210/jc.2006-1374. Epub 2006 Oct 17.
5
Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome.特纳综合征的患病率、发病率、诊断延迟及死亡率
J Clin Endocrinol Metab. 2006 Oct;91(10):3897-902. doi: 10.1210/jc.2006-0558. Epub 2006 Jul 18.
6
Advanced maternal age--how old is too old?高龄产妇——多大年龄算太大?
N Engl J Med. 2004 Nov 4;351(19):1927-9. doi: 10.1056/NEJMp048087.
7
Delayed diagnoses of Turner's syndrome: proposed guidelines for change.特纳综合征的延迟诊断:变革的建议指南。
J Pediatr. 2000 Oct;137(4):455-9. doi: 10.1067/mpd.2000.107390.
8
Chromosomal abnormalities and schizophrenia.染色体异常与精神分裂症。
Am J Med Genet. 2000 Spring;97(1):45-51. doi: 10.1002/(sici)1096-8628(200021)97:1<45::aid-ajmg6>3.0.co;2-9.
9
Klinefelter syndrome.克兰费尔特综合征
Arch Intern Med. 1998 Jun 22;158(12):1309-14. doi: 10.1001/archinte.158.12.1309.
10
Morbidity in Turner syndrome.特纳综合征的发病率。
J Clin Epidemiol. 1998 Feb;51(2):147-58. doi: 10.1016/s0895-4356(97)00237-0.

[孕产妇年龄与胎儿性染色体非整倍体的关联]

[Association of maternal age with fetal sex chromosome aneuploidies].

作者信息

Lei Yu, Dong Minyue

机构信息

School of Medicine, Zhejiang University, Hangzhou 310029, China.

Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China.

出版信息

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2019 Jun 25;48(4):409-413. doi: 10.3785/j.issn.1008-9292.2019.08.10.

DOI:10.3785/j.issn.1008-9292.2019.08.10
PMID:31901045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8800800/
Abstract

OBJECTIVE

To analyze the impact of maternal age on sex chromosome aneuploidies (SCA).

METHODS

Pregnant women who had karyotype analysis of amniotic fluid in Women's Hospital, Zhejiang University School of Medicine from January 2014 to July 2018 were recruited. The association of the maternal age with fetal SCAs was analyzed.

RESULTS

The incidence of 45, X in age group >34-<38 was lower than that of ≤ 28 age group (<0.05). For the incidences of total sex chromosome trisomy and 47, XXY in age groups 34-<38 and ≥38 were higher than age groups ≤28 and >28-34 (<0.05 or <0.01). The incidence of 47, XXX in age group ≥ 38 was higher than that in age group>28-34 (<0.05). However, the incidence of 47, XYY had no differences among the four groups (>0.05). After excluding the high risk of sex chromosome abnormalities by non-invasive prenatal testing (NIPT), we found that for 45, X, the incidences of two groups with advanced age were lower than that of ≤ 28 year-old group of age group (<0.05 or <0.01), and incidence in age group >34-<38 was also lower than that in age group >28-34 (<0.05). The other results were consistent with those without excluding the high risk of sex chromosome abnormalities by NIPT.

CONCLUSIONS

Advanced age decreases the incidence of 45, X, but increases the risk of sex chromosome trisomy, especially 47, XXX and 47, XXY.

摘要

目的

分析孕妇年龄对性染色体非整倍体(SCA)的影响。

方法

招募2014年1月至2018年7月在浙江大学医学院附属妇产科医院进行羊水染色体核型分析的孕妇。分析孕妇年龄与胎儿SCA的相关性。

结果

年龄>34~<38岁组中45,X的发生率低于年龄≤28岁组(<0.05)。年龄34~<38岁组和≥38岁组的性染色体三体和47,XXY的总发生率高于年龄≤28岁组和>28~34岁组(<0.05或<0.01)。年龄≥38岁组中47,XXX的发生率高于>28~34岁组(<0.05)。然而,47,XYY的发生率在四组之间无差异(>0.05)。通过无创产前检测(NIPT)排除性染色体异常高风险后,我们发现对于45,X,两个高龄组的发生率低于年龄≤28岁组(<0.05或<0.01),且年龄>34~<38岁组的发生率也低于>28~34岁组(<0.05)。其他结果与未通过NIPT排除性染色体异常高风险时一致。

结论

高龄降低了45,X的发生率,但增加了性染色体三体的风险,尤其是47,XXX和47,XXY。