先天畸形患儿染色体异常、分布情况及孕产妇高危因素分析
|
摘要
目的探讨先天畸形患儿染色体异常及其分布情况,并对孕妇高危因素进行分析。方法选取2013年1月至2016年3月在我院出生的先天畸形患儿273例作为研究对象,并调查孕产妇的临床资料,另选取同时期273例正常孕产妇为对照组。对273例先天畸形患儿行外周血染色体核型分析,并使用单因素及多因素Logistic回归对影响胎儿先天畸形的高危因素进行分析。结果 273例先天畸形患儿中,103例患儿被检测出异常核型,异常率为37.73%。其中三体核型有84例,占81.55%,单体型有2例,占1.94%,平衡易位有3例,占2.91%,罗伯逊易位有9例,占8.74%,缺失有3例,占2.91%,末端增加有2例,占1.94%。病例组孕产妇和正常孕产妇在生育年龄、居住环境、文化程度、孕期抽烟、孕期喝酒、饲养宠物、孕期病毒感染、孕期服药、孕期合并症、孕期接触化学制剂方面比较,差异均具有统计学意义(P<0.05)。孕期抽烟(OR=8.675)、孕期喝酒(OR=10.248)、孕期病毒感染(OR=10.387)、孕期服药(OR=5.746)、孕期合并症(OR=9.647)是婴幼儿先天畸形的高危影响因素。结论染色体异常及分布情况与先天畸形患儿的临床表型关系密切,加强产前健康教育及早期预防能有效减少先天畸形患儿的发生率。
Objective:To investigate the chromosomal abnormalities and their distribution in children with congenital malformation and to analyze the risk factors of pregnant women. Methods:A total of 273 children with congenital malformations born in our hospital from January 2013 to March 2016 were selected as subjects. The clinical data of pregnant women were investigated. Another 273 normal pregnant women were selected as the control group. The karyotype analysis of peripheral blood in 273 children with congenital malformation was performed,and the risk factors affecting fetal congenital malformation were analyzed by univariate and multivariate logistic regression. Results:Of the 273 children with congenital malformations,103 were detected with abnormal karyotype,and the abnormal rate was 37.73%. Among them,there were 84 cases of trisomy,accounting for 81.55%,2 cases of haplotype,accounting for 1.94%,3 cases of balanced translocation,accounting for 2.91%,9 cases of Robertsonian translocation,accounting for 8.74%,and 3 cases of deletion.,accounting for 2.91%,the end increased by 2 cases,accounting for 1.94%. Case group maternal and normal pregnant women in terms of reproductive age,living environment,education level,smoking during pregnancy,drinking during pregnancy,keeping pets,viral infection during pregnancy,taking medication during pregnancy,comorbidity during pregnancy,exposure to chemical agents during pregnancy,the differences are statistically significant Significance(P<0.05). Smoking during pregnancy(OR=8.675),drinking during pregnancy(OR=10.248),viral infection during pregnancy(OR=10.387),medication during pregnancy(OR=5.746),pregnancy complications(OR=9.647)are high-risk factors affecting congenital malformations in infants. Conclusion:Chromosome abnormalities and distribution are closely related to the clinical phenotype of children with congenital malformation. Strengthening prenatal health education and early prevention can effectively reduce the incidence of congenital malformations.
Objective:To investigate the chromosomal abnormalities and their distribution in children with congenital malformation and to analyze the risk factors of pregnant women. Methods:A total of 273 children with congenital malformations born in our hospital from January 2013 to March 2016 were selected as subjects. The clinical data of pregnant women were investigated. Another 273 normal pregnant women were selected as the control group. The karyotype analysis of peripheral blood in 273 children with congenital malformation was performed,and the risk factors affecting fetal congenital malformation were analyzed by univariate and multivariate logistic regression. Results:Of the 273 children with congenital malformations,103 were detected with abnormal karyotype,and the abnormal rate was 37.73%. Among them,there were 84 cases of trisomy,accounting for 81.55%,2 cases of haplotype,accounting for 1.94%,3 cases of balanced translocation,accounting for 2.91%,9 cases of Robertsonian translocation,accounting for 8.74%,and 3 cases of deletion.,accounting for 2.91%,the end increased by 2 cases,accounting for 1.94%. Case group maternal and normal pregnant women in terms of reproductive age,living environment,education level,smoking during pregnancy,drinking during pregnancy,keeping pets,viral infection during pregnancy,taking medication during pregnancy,comorbidity during pregnancy,exposure to chemical agents during pregnancy,the differences are statistically significant Significance(P<0.05). Smoking during pregnancy(OR=8.675),drinking during pregnancy(OR=10.248),viral infection during pregnancy(OR=10.387),medication during pregnancy(OR=5.746),pregnancy complications(OR=9.647)are high-risk factors affecting congenital malformations in infants. Conclusion:Chromosome abnormalities and distribution are closely related to the clinical phenotype of children with congenital malformation. Strengthening prenatal health education and early prevention can effectively reduce the incidence of congenital malformations.
引文
[1]马涛,杨晓,岳军,等.妊娠中晚期超声软指标与胎儿染色体异常及其围生结局[J].实用妇产科杂志,2017,33(2):110-113.
[2]张炼.先天性心脏病遗传学基础研究进展[J].中华实用儿科临床杂志,2016,31(13):969-972.
[3]祝建疆,戚红,杨锴,等. 416例染色体病高危新生儿脐血染色体核型分析[J].中国优生与遗传杂志,2016,16(9):39-41.
[4]Silva A,Baptista M J,Araújo E. Congenital anomalies of the coronary arteries[J]. Am J Cardiol,2016,97(5):561-569.
[5]Ludvigsson J F,Str?m P,Lundholm C,et al. Risk for Congenital Malformation With H1N1 Influenza Vaccine:A Cohort Study With Sibling Analysis[J]. Ann Intern Med,2016,165(12):848-855.
[6]Springett A,Wellesley D,Greenlees R,et al. Congenital anomalies associated with trisomy 18 or trisomy 13:A registry‐based study in 16 european countries,2000-2011[J]. Am J Med Genet A,2016,167(12):3062-3069.
[7]王红英,李海波,何亚香,等. 505例先天畸形新生儿的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(1):114-116.
[8]黄丽婵,李九凤,等. 934例不孕不育女性染色体异常核型分析及临床意义[J].中国优生与遗传杂志,2017,12(2):60-61.
[9]韦世录,等. 2628例侵入性产前诊断指征探讨及胎儿染色体异常核型分析[J].临床医学研究与实践,2017,2(15):127-127.
[10]魏莉,倪璟,朱红芬.染色体罗伯逊易位与女性不良孕产关系探讨[J].中国优生与遗传杂志,2016,11(12):79-80.
[11]冯亮,姜丽民,袁海燕.罗伯逊易位携带者引起生殖异常的临床分析[J].中国妇幼保健,2016,31(17):3577-3578.
[12]王红英,李海波,何亚香,等. 505例先天畸形新生儿的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(1):114-116.
[13]Nora E P,Goloborodko A,et al. Targeted Degradation of CTCF Decouples Local Insulation of Chromosome Domains from Genomic Compartmentalization[J]. Cell,2017,169(5):930-944.
[14]Poznik G D,Xue Y,Mendez F L,et al. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences[J]. Nat Genet,2016,48(6):593-599.
[15]沈红霞,王华伟,李薇.男性性染色体异常与性腺发育不全关系的探讨[J].中国优生与遗传杂志,2016,12(2):58-59.
[16]滕晓慧,潘石蕾.孕妇年龄与妊娠高危因素及妊娠结局的关系[J].实用妇产科杂志,2017,33(9):692-696.
[17]余灵辉,李海燕,曹登成.围产儿出生缺陷及相关危险因素分析[J].医学临床研究,2016,33(7):1307-1309.
[18]Vivante A,Hwang D Y,Kohl S,et al. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract[J]. J Am Soc Nephrol,2017,28(1):69-75.
[19]Desilva M,et al. Congenital anomalies:Case definition and guidelines for data collection,analysis,and presentation of immunization safety data[J]. Vaccine,2016,34(49):6015-6026.
[20]李喜莲,张斌.胎儿先天畸形孕产妇高危因素分析[J].中国临床医学,2017,24(3):377-381.
[2]张炼.先天性心脏病遗传学基础研究进展[J].中华实用儿科临床杂志,2016,31(13):969-972.
[3]祝建疆,戚红,杨锴,等. 416例染色体病高危新生儿脐血染色体核型分析[J].中国优生与遗传杂志,2016,16(9):39-41.
[4]Silva A,Baptista M J,Araújo E. Congenital anomalies of the coronary arteries[J]. Am J Cardiol,2016,97(5):561-569.
[5]Ludvigsson J F,Str?m P,Lundholm C,et al. Risk for Congenital Malformation With H1N1 Influenza Vaccine:A Cohort Study With Sibling Analysis[J]. Ann Intern Med,2016,165(12):848-855.
[6]Springett A,Wellesley D,Greenlees R,et al. Congenital anomalies associated with trisomy 18 or trisomy 13:A registry‐based study in 16 european countries,2000-2011[J]. Am J Med Genet A,2016,167(12):3062-3069.
[7]王红英,李海波,何亚香,等. 505例先天畸形新生儿的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(1):114-116.
[8]黄丽婵,李九凤,等. 934例不孕不育女性染色体异常核型分析及临床意义[J].中国优生与遗传杂志,2017,12(2):60-61.
[9]韦世录,等. 2628例侵入性产前诊断指征探讨及胎儿染色体异常核型分析[J].临床医学研究与实践,2017,2(15):127-127.
[10]魏莉,倪璟,朱红芬.染色体罗伯逊易位与女性不良孕产关系探讨[J].中国优生与遗传杂志,2016,11(12):79-80.
[11]冯亮,姜丽民,袁海燕.罗伯逊易位携带者引起生殖异常的临床分析[J].中国妇幼保健,2016,31(17):3577-3578.
[12]王红英,李海波,何亚香,等. 505例先天畸形新生儿的细胞遗传学分析[J].中华医学遗传学杂志,2016,33(1):114-116.
[13]Nora E P,Goloborodko A,et al. Targeted Degradation of CTCF Decouples Local Insulation of Chromosome Domains from Genomic Compartmentalization[J]. Cell,2017,169(5):930-944.
[14]Poznik G D,Xue Y,Mendez F L,et al. Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences[J]. Nat Genet,2016,48(6):593-599.
[15]沈红霞,王华伟,李薇.男性性染色体异常与性腺发育不全关系的探讨[J].中国优生与遗传杂志,2016,12(2):58-59.
[16]滕晓慧,潘石蕾.孕妇年龄与妊娠高危因素及妊娠结局的关系[J].实用妇产科杂志,2017,33(9):692-696.
[17]余灵辉,李海燕,曹登成.围产儿出生缺陷及相关危险因素分析[J].医学临床研究,2016,33(7):1307-1309.
[18]Vivante A,Hwang D Y,Kohl S,et al. Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract[J]. J Am Soc Nephrol,2017,28(1):69-75.
[19]Desilva M,et al. Congenital anomalies:Case definition and guidelines for data collection,analysis,and presentation of immunization safety data[J]. Vaccine,2016,34(49):6015-6026.
[20]李喜莲,张斌.胎儿先天畸形孕产妇高危因素分析[J].中国临床医学,2017,24(3):377-381.