Please wait a minute...
浙江大学学报（医学版）
浙江大学学报（医学版）  2019, Vol. 48 Issue (4): 409-413    DOI: 10.3785/j.issn.1008-9292.2019.08.10
专题报道     
孕妇年龄影响胎儿性染色体非整倍体风险
雷雨1(),董旻岳2,*()
1. 浙江大学医学院, 浙江 杭州 310029
2. 浙江大学医学院附属妇产科医院生殖遗传科 生殖遗传教育部重点实验室, 浙江 杭州 310006
Association of maternal age with fetal sex chromosome aneuploidies
LEI Yu1(),DONG Minyue2,*()
1. School of Medicine, Zhejiang University, Hangzhou 310029, China
2. Key Laboratory of Reproductive Genetics, Ministry of Education, Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Hangzhou 310006, China
 全文: PDF(897 KB)   HTML( 7 )
摘要：

目的: 分析孕妇年龄对胎儿性染色体非整倍体发生风险的影响。方法: 以2014年1月至2018年7月在浙江大学医学院附属妇产科医院行羊水染色体核型分析的孕妇为研究对象，分为非高龄组（≤28岁、>28~34岁）和高龄组（>34~ < 38岁和≥38岁），比较各组间胎儿性染色体非整倍体的发生率。结果: > 34~ < 38岁组胎儿45，X的发生率低于≤28岁组（P < 0.05）；高龄组两个亚组胎儿总的性染色体三体的发生率高于非高龄组的两个亚组（P < 0.05或P < 0.01）；≥38岁组47，XXX发生率高于>28~34岁组（P < 0.05）；高龄两组47，XXY发生率高于非高龄组的两个亚组（P < 0.01）；各组间胎儿47，XYY发生率差异无统计学意义（P>0.05）。排除无创产前检测提示性染色体异常高风险孕妇后，高龄组两个亚组胎儿45，X发生率均低于≤28岁组（P < 0.05或P < 0.01），且>34~ < 38岁组45，X发生率低于>28~34岁组（P < 0.05）；其余结果均与全部孕妇结果一致。结论: 孕妇年龄越大，胎儿45，X发生风险降低，但47，XXX和47，XXY的发生风险升高。
关键词： 胎儿/畸形;  孕妇;  年龄因素;  性染色体/遗传学;  非整倍性;  三体性;  异常核型;  产前诊断    
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 (P < 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 (P < 0.05 or P < 0.01). The incidence of 47, XXX in age group ≥ 38 was higher than that in age group>28-34 (P < 0.05). However, the incidence of 47, XYY had no differences among the four groups (P>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 (P < 0.05 or P < 0.01), and incidence in age group >34- < 38 was also lower than that in age group >28-34 (P < 0.05). The other results were consistent with those without excluding the high risk of sex chromosome abnormalities by NIPT. Conclusion: Advanced age decreases the incidence of 45, X, but increases the risk of sex chromosome trisomy, especially 47, XXX and 47, XXY.
Key words: Fetus/abnormalities    Pregnant women    Age factors    Sex chromosomes/genetics    Aneuploidy    Trisomy    Abnormal karyotype    Prenatal diagnosis
收稿日期: 2019-04-01 出版日期: 2019-10-30
:  R715.3  
基金资助: 浙江省重点研发计划(2019C03025)
通讯作者: 董旻岳     E-mail: 3120103467@zju.edu.cn;dongmy@zju.edu.cn
作者简介: 雷雨(1994—), 女, 博士研究生, 主要从事生殖遗传学研究; E-mail: 3120103467@zju.edu.cn; https://orcid.org/0000-0002-3721-6193
服务　　
把本文推荐给朋友
加入引用管理器
E-mail Alert
RSS
作者相关文章　　
雷雨
董旻岳

引用本文:

雷雨,董旻岳. 孕妇年龄影响胎儿性染色体非整倍体风险[J]. 浙江大学学报（医学版）, 2019, 48(4): 409-413.

LEI Yu,DONG Minyue. Association of maternal age with fetal sex chromosome aneuploidies. J Zhejiang Univ (Med Sci), 2019, 48(4): 409-413.

链接本文:

http://www.zjujournals.com/med/CN/10.3785/j.issn.1008-9292.2019.08.10    或    http://www.zjujournals.com/med/CN/Y2019/V48/I4/409

[n(‰)]
组别 n 单体：45，X 三体
47，XXX 47, XXY 47, XYY 合计
与≤28岁组比较，*P＜0.05，**P＜0.01；与＞28~34岁组比较，#P＜0.05，##P＜0.01.
≤28岁 2167 18(8.31) 9(4.15) 3(1.38) 2(0.92) 14(6.46)
＞28~34岁 2738 17(6.21) 4(1.46) 5(1.83) 9(3.29) 18(6.57)
＞34~＜38岁 2317 6(2.59)* 8(3.45) 16(6.91)**## 8(3.45) 32(13.81)*##
≥38岁 2634 10(3.80) 14(5.32)# 20(7.59)**## 5(1.90) 39(14.81)**##
表 1  不同年龄段孕妇性染色体非整倍体的检出率
[n(‰)]
组别 n 单体：45，X 三体
47，XXX 47, XXY 47, XYY 合计
与≤28岁组比较，*P＜0.05，**P＜0.01；与＞28~34岁组比较，#P＜0.05，##P＜0.01.
≤28岁 2134 13(6.07) 4(1.87) 0 1(0.47) 5(2.34)
＞28~34岁 2701 12(4.44) 1(0.37) 2(0.74) 4(1.48) 7(2.59)
＞34~＜38岁 2269 2(0.88)**# 4(1.76) 11(4.85)**## 4(1.76) 19(8.37)**##
≥38岁 2594 5(1.93)* 7(2.70)# 10(3.86)**# 2(0.77) 19(7.32)*#
表 2  排除无创产前检测高风险孕妇后不同年龄段性染色体非整倍体的检出率
1 NIELSEN J M . Treatment of the common vascular hemiplegias[J]. Cal West Med, 1938, 49 (3): 181- 182
2 CAROTHERS A D , COLLYER S , DE MEY R et al. Parental age and birth order in the aetiology of some sex chromosome aneuploidies[J]. Ann Hum Genet, 1978, 41 (3): 277- 287
3 FERGUSON-SMITH M A, YATES J R. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52965 amniocenteses[J]. Prenat Diagn, 1984, 4 Spec No: 5-44.
4 SCHREINEMACHERS D M , CROSS P K , HOOK E B . Rates of trisomies 21, 18, 13 and other chromosome abnormalities in about 20000 prenatal studies compared with estimated rates in live births[J]. Hum Genet, 1982, 61 (4): 318- 324
5 STEVENS-KROEF M , SIMONS A , RACK K et al. Cytogenetic nomenclature and reporting[J]. Methods Mol Biol, 2017, 1541:303- 309
6 S?VENDAHL L , DAVENPORT M L . Delayed diagnoses of Turner's syndrome:proposed guidelines for change[J]. J Pediatr, 2000, 137 (4): 455- 459
doi: 10.1067/mpd.2000.107390
7 GRAVHOLT C H , JUUL S , NAERAA R W et al. Morbidity in Turner syndrome[J]. J Clin Epidemiol, 1998, 51 (2): 147- 158
doi: 10.1016/S0895-4356(97)00237-0
8 SMYTH C M , BREMNER W J . Klinefelter syndrome[J]. Arch Intern Med, 1998, 158 (12): 1309- 1314
doi: 10.1001/archinte.158.12.1309
9 TURNER H H . A syndrome of infantilism, congenital webbed neck, and cubitus valgus[J]. Endocrinology, 1938, 23 (5): 566- 574
doi: 10.1210/endo-23-5-566
10 BONDY C A , Turner Syndrome Study Group . Care of girls and women with Turner syndrome:a guideline of the Turner Syndrome Study Group[J]. J Clin Endocrinol Metab, 2007, 92 (1): 10- 25
doi: 10.1210/jc.2006-1374
11 STOCHHOLM K , JUUL S , JUEL K et al. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome[J]. J Clin Endocrinol Metab, 2006, 91 (10): 3897- 3902
doi: 10.1210/jc.2006-0558
12 FITZGERALD P H . A mechanism of X chromosome aneuploidy in lymphocytes of aging women[J]. Humangenetik, 1975, 28 (2): 153- 158
13 FITZGERALD P H , MCEWAN C M . Total aneuploidy and age-related sex chromosome aneuploidy in cultured lymphocytes of normal men and women[J]. Hum Genet, 1977, 39 (3): 329- 337
14 JARVIK L F , YEN F S , FU T K et al. Chromosomes in old age:a six year longitudinal study[J]. Hum Genet, 1976, 33 (1): 17- 22
15 HEFFNER L J . Advanced maternal age——how old is too old?[J]. N Engl J Med, 2004, 351 (19): 1927- 1929
doi: 10.1056/NEJMp048087
16 BASSETT A S , CHOW E W , WEKSBERG R . Chromosomal abnormalities and schizophrenia[J]. Am J Med Genet, 2000, 97 (1): 45- 51
17 VISOOTSAK J , GRAHAM J M JR . Klinefelter syndrome and other sex chromosomal aneuploidies[J]. Orphanet J Rare Dis, 2006, 1:42
doi: 10.1186/1750-1172-1-42
[1] 张丹丹,王军梅. 胎儿肝血管瘤的产前影像学诊断和管理[J]. 浙江大学学报（医学版）, 2019, 48(4): 439-445.
[2] 王雅芸,陈原,杨蒙蒙,习芳芳,占琪涛,蒋颖,赵柏惠,罗琼. 淋巴水囊瘤或颈部组织增厚胎儿预后分析[J]. 浙江大学学报（医学版）, 2019, 48(4): 434-438.
[3] 殷一旋,朱晖,钱叶青,金晶磊,梅瑾,董旻岳. 2057名双胎妊娠孕妇无创产前筛查结果分析[J]. 浙江大学学报（医学版）, 2019, 48(4): 403-408.
[4] 梅瑾,刘姣,王敏,张闻,王昊,卢莎,何茶英,靳春雷. 八例22q11.2区微重复胎儿产前诊断和妊娠结局分析[J]. 浙江大学学报（医学版）, 2019, 48(4): 429-433.
[5] 俞佳玲,孙义锡,胡珺洁,钱叶青,罗玉琴,董旻岳. 74例鼻骨缺失胎儿单核苷酸多态性微阵列检测结果分析[J]. 浙江大学学报（医学版）, 2019, 48(4): 414-419.
[6] 罗玉琴,沈敏,孙义锡,钱叶青,王丽雅,俞佳玲,胡珺洁,金帆,董旻岳. 一例染色体复杂易位致胎儿多发畸形的遗传学诊断[J]. 浙江大学学报（医学版）, 2019, 48(4): 397-402.
[7] 刘蓓,杨艳梅,严恺,陈敏,王丽雅,黄颖之,钱叶青,董旻岳. Ⅰ型神经纤维瘤一家系的基因检测及产前诊断[J]. 浙江大学学报（医学版）, 2019, 48(4): 367-372.
[8] 严恺 等. 出生缺陷相关遗传病产前诊断技术新进展[J]. 浙江大学学报（医学版）, 2017, 46(3): 227-232.
[9] 洪芳 等. 浙江省新生儿有机酸尿症筛查及随访分析[J]. 浙江大学学报（医学版）, 2017, 46(3): 240-247.
[10] 朱晖 等. 高龄孕妇外周血胎儿游离DNA产前筛查胎儿常见非整倍体的临床意义[J]. 浙江大学学报（医学版）, 2017, 46(3): 256-261.
[11] 温弘 等. 产前诊断Joubert综合征一例并文献复习[J]. 浙江大学学报（医学版）, 2017, 46(3): 274-278.
[12] 陈益明 等. 中孕期母血清甲胎蛋白和游离β-hCG筛查胎儿腹裂和脐膨出的效率[J]. 浙江大学学报（医学版）, 2017, 46(3): 268-273.
[13] 沈亲亲, 张檀. 产前筛查血清学指标与不良妊娠结局关系的研究进展[J]. 浙江大学学报（医学版）, 2015, 44(3): 339-343.
[14] 田吉顺, 潘飞霞, 何赛男, 胡文胜. 瘢痕子宫合并前置胎盘孕妇孕中晚期引产的危险因素分析[J]. 浙江大学学报（医学版）, 2015, 44(3): 247-252.
[15] 吴桐菲，李溪远，王峤，刘玉鹏，丁圆，宋金青，张尧，杨艳玲. 一例婴儿型Sandhoff病家系的基因诊断与产前诊断[J]. 浙江大学学报（医学版）, 2013, 42(4): 403-.