[1]熊梦华,郑 娇,徐 慧,等.不良孕产史孕妇羊水染色体核型分析[J].医学信息,2021,34(23):135-137.[doi:10.3969/j.issn.1006-1959.2021.23.040]
 XIONG Meng-hua,ZHENG Jiao,XU Hui,et al.Analysis of Amniotic Fluid Chromosome Karyotype in Pregnant Women with Adverse Pregnancy History[J].Medical Information,2021,34(23):135-137.[doi:10.3969/j.issn.1006-1959.2021.23.040]
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不良孕产史孕妇羊水染色体核型分析()
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医学信息[ISSN:1006-1959/CN:61-1278/R]

卷:
34卷
期数:
2021年23期
页码:
135-137
栏目:
临床研究
出版日期:
2021-12-01

文章信息/Info

Title:
Analysis of Amniotic Fluid Chromosome Karyotype in Pregnant Women with Adverse Pregnancy History
文章编号:
1006-1959(2021)23-0135-03
作者:
熊梦华郑 娇徐 慧
(空军军医大学西京医院妇产科,陕西 西安 710032)
Author(s):
XIONG Meng-huaZHENG JiaoXU Huiet al.
(Department of Obstetrics and Gynecology,Xijing Hospital of Air Force Medical University,Xi’an 710032,Shaanxi,China)
关键词:
良孕产史羊水细胞培养染色体核型分析异常核型检出率
Keywords:
Abnormal pregnancy historyAmniotic fluid cell cultureChromosome karyotype analysisAbnormal karyotype detection rate
分类号:
Q343.2+44
DOI:
10.3969/j.issn.1006-1959.2021.23.040
文献标志码:
A
摘要:
目的 探讨不良孕产史孕妇行胎儿染色体核型分析的意义。方法 2017年12月-2019年11月空军军医大学西京医院接诊的不良孕产史孕妇共393例,经产前咨询后行胎儿染色体核型分析检查。按不良孕产史将病例分为4组。将孕育过染色体病患儿的孕妇95例设为A组,孕育过基因病患儿的孕妇80例设为B组,孕育过发病原因不明异常胎儿的孕妇185例设为C组,夫妻一方携带异常染色体33例设为D组;按有无合并其他检查指征将病例分为单纯不良孕产史组(291例)和合并检查指征组(102例)。分析各组胎儿染色体核型。结果 共检出有临床意义的异常核型26例,异常核型检出率为6.62%。孕育过发病原因不明异常胎儿和夫妻一方携带异常染色体的病例的胎儿异常核型检出率较高,分别为5.95%和36.36%。单纯不良孕产史组与合并检查指征组的异常核型检出率均较高,分别为6.53%和6.68%。结论 孕育过发病原因不明异常胎儿和夫妻一方携带异常染色体的病例胎儿异常核型检出率较高,对有不良孕产史的孕妇,无论是否合并其他检查指征,应根据既往不良孕产史选择适宜的筛查和诊断性检查。
Abstract:
Objective To investigate the significance of fetal chromosome karyotype analysis in pregnant women with adverse pregnancy history.Methods A total of 393 pregnant women with adverse pregnancy history were admitted to Xijing Hospital of Air Force Medical University from December 2017 to November 2019, and fetal karyotype analysis was performed after prenatal consultation. They were divided into four groups according to the history of adverse pregnancy, 95 pregnant women with chromosomal diseases were set as group A, 80 pregnant women with genetic diseases were set as group B, 185 pregnant women with unexplained abnormal fetuses were set as group C, and 33 pregnant women with abnormal chromosomes were set as group D. And according to the presence or absence of other examination indications, they were divided into simple adverse pregnancy history group (291 cases) and combined examination indications group (102 cases). The abnormal karyotypes were statistically analyzed in each group.Results A total of 26 cases of abnormal karyotypes with clinical significance were detected, and the detection rate of abnormal karyotypes was 6.62%. The detection rate of fetal abnormal karyotype was higher in patients who have had abnormal fetuses with unknown causes and in cases that one spouse carries an abnormal chromosome, which was 5.95% and 36.36%, respectively. The detection rate of abnormal karyotype was both high in simple adverse pregnancy history group and combined examination indication group, which was 6.53% and 6.68%, respectively.Conclusion The detection rate of fetal abnormal karyotype was higher in cases who had given birth to abnormal fetuses with unknown causes and in cases with one partner carrying an abnormal chromosomal karyotype. For pregnant women with a history of abnormal pregnancy, appropriate screening and diagnostic tests should be chosen according to the causes of abnormal pregnancy history whether or not other inspection indications are incorporated.

参考文献/References:

[1]张丽梅,方琳.孕龄妇女不良孕产史病因学研究[J].现代医学与健康研究电子杂志,2020,4(2):102-105.[2]杨文霞,覃磊,高瑞宏,等.不良孕产史与染色体异常之间的关系[J].中国优生与遗传杂志,2019,27(9):1070-1071.[3]刘晓丹,宋勤浩,苗正友,等.Bobs技术在胎儿染色体异常产前诊断中的应用[J].中国计划生育学杂志,2018,26(6):439-442.[4]Ritchie K,Bradbury I,Slattery J,et al.Economic modelling of antenatal screening and ultrasound scanning programmes for identification of fetal abnormalities[J].BJOG,2005,112(7):866-874.[5]Xiao H,Yang YL,Zhang CY,et al.Karyotype analysis with amniotic fluid in 12365 pregnant women with indications for genetic amniocentesis and strategies of prenatal diagnosis[J].J Obstet Gynaecol,2016,36(3):293-296.[6]蔡娜,靳秋杰,李雨薇,等.唐氏综合征患儿额外21号染色体亲本来源分析[J].中国妇幼健康研究,2017(1):1613-1615.[7]朱蕊,曾爱群,杜晶春.高危孕妇572例妊娠中期羊水细胞染色体核型分析[J].实用医学杂志,2016,32(18):3050-3052.[8]Nazareth SB,Lazarin GA,Goldberg JD.Changing trends in carrier screening for genetic disease in the United States[J].Prenat Diagn,2015,35(10):931-935.[9]Filges I,Nosova E,Bruder E,et al.Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype[J].Clin Genet,2014,86(3):220-228.[10]de Graaf IM,Pajkrt E,Bilardo CM,et al.Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency[J].Prenat Diagn,1999,19(5):458-462.[11]叶小燕,阮月芳,陶素萍,等.反复流产胚胎染色体核型分析[J].中国计划生育学杂志,2020,28(11):122-125.[12]刘丽君,李卉,姚妍怡,等.平衡易位携带者孕中期产前诊断结果分析[J].实用妇产科杂志,2018,34(03):231-233.[13]贾冬赟,王美岩,靖吉丽,等.染色体罗伯逊易位与不良孕产史及后代患病分析[J].中国实验诊断学,2018,22(9):1671-1672.[14]尚秋杰,王亚男.染色体多态性与生殖异常的关系探讨[J].中国优生与遗传杂志,2018,26(1):45-46.[15]吴小青,李英,林娜,等.95例平衡易位携带者的产前诊断结果及临床分析[J].中华医学遗传学杂志,2016,33(3):418-421.[16]王珺,苟兴庆,王茜怡,等.断裂点精确定位在平衡易位胚胎染色体分析中的应用[J].生殖医学杂志,2020,29(11):1483-1492.

更新日期/Last Update: 1900-01-01