680例胎儿脐血产前诊断结果分析
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摘要
目的探讨妊娠中晚期脐血穿刺产前诊断的临床应用价值。方法将2017年5月～2018年6月680例具有不同诊断指征的高危孕妇行胎儿脐静脉穿刺,抽取脐带血进行染色体核型分析,新生儿娩出后,根据娩出情况分为正常新生儿组与异常新生儿组,回顾性分析其妊娠中晚期脐血穿刺产前诊断肝肾功能指标差异。结果高龄产妇36例,超声诊断胎儿畸形399例,唐氏筛查高危88例,不良孕产史36例,羊水或绒毛染色体异常63例,夫妻双方地贫36例,其他22例,检出率分别为11.11%、16.79%、5.68%、8.33%、31.74%、2.78%、4.54%,各类指征核型异常检出率差异有统计学意义(P <0.05);680例脐血染色体核型中,101例核型异常,异常率为14.85%,101例核型异常中,三体综合症共33例,其中21-三体17例,18-三体4例,13-三体12例,占总核型异常比例分别为16.83%、3.96%、11.88%;性染色体异常10例,占总核型异常比例为9.90%;嵌合体22例,占总核型异常比例为21.78%;倒位11例,占总核型异常比例为10.89%;其他21例,占总核型异常比例为20.79%;异常新生儿组肝肾功能指标β2-MG、(BUN)、肌酐(Cr)、丙氨酸氨基转移酶(ALT)、门冬氨酸氨基转移酶(AST)、总胆红素(TBIL)含量均高于正常新生儿组,差异有统计学意义(P <0.05);Logistic回归分析显示脐血肝肾功能指标β2-MG、BUN、Cr、ALT、AST、TBIL含量是影响新生儿预后的独立危险因素。结论妊娠中晚期脐血穿刺产前诊断是减少出生缺陷的一项重要产前诊断技术。
Objective To explore the clinical application value of prenatal diagnosis of cord blood puncture on medium and late pregnancy stage.Methods From May 2017 to June 2018,680 high-risk pregnant women with different diagnostic indications were treated with fetal umbilical vein puncture,and cord blood was extracted for karyotype analysis.After the newborns were delivered,they were divided into normal neonatal group and abnormal neonatal group according to the delivery situation.The differences in liver and kidney function indexes of prenatal diagnosis of cord blood puncture on medium and late pregnancy stage were analyzed retrospectively.Results Of whom,there were 36 elderly parturient women,399 cases with ultrasonic diagnosis of fetal malformation,88 highrisk cases by Down's screening,36 cases with adverse pregnancy history,63 cases with amniotic fluid or chorionic chromosomal abnormalities,36 cases with husband-wife thalassemia and 22 other cases,and the detection rates were 11.11%,16.79%,5.68%,8.33%,31.74%,2.78% and 4.54% respectively.There were statistically significant differences in the detection rates of various indicated karyotype abnormalities(P < 0.05).In 680 cases of karyotype analysis of cord blood,101 cases were with abnormal karyotypes and the abnormal rate was 14.85%.Among 101 cases of abnormal karyotypes,33 cases were trisomy syndrome,including 21 cases of 21-trisomy,4 cases of 18-trisomy and 12 cases of 13-trisomy which accounted for 16.83%,3.96% and 11.88% of total karyotype abnormalities.There were 10 cases of abnormal sex chromosomes,accounting for 9.90% of the total karyotype abnormalities.There were 22 cases of chimera,accounting for 21.78% of the total karyotype abnormalities.11 cases were inverted,accounting for 10.89%of the total karyotype abnormalities.The other 21 cases accounted for 20.79% of the total karyotype abnormalities.Liver and kidney function indexes such as contents of β2-MG,(BUN),creatinine(Cr),alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bilirubin(TBIL) in the abnormal neonatal group were all higher than the normal neonate group,and the difference was statistically significant(P < 0.05).Logistic regression analysis showed that the contents of β2-MG,BUN,Cr,ALT,AST and TBIL in liver and kidney function indexes of cord blood were independent risk factors affecting the prognosis of neonates.Conclusion Prenatal diagnosis of cord blood puncture on medium and late pregnancy stage is an important prenatal diagnosis technique to reduce birth defects.
Objective To explore the clinical application value of prenatal diagnosis of cord blood puncture on medium and late pregnancy stage.Methods From May 2017 to June 2018,680 high-risk pregnant women with different diagnostic indications were treated with fetal umbilical vein puncture,and cord blood was extracted for karyotype analysis.After the newborns were delivered,they were divided into normal neonatal group and abnormal neonatal group according to the delivery situation.The differences in liver and kidney function indexes of prenatal diagnosis of cord blood puncture on medium and late pregnancy stage were analyzed retrospectively.Results Of whom,there were 36 elderly parturient women,399 cases with ultrasonic diagnosis of fetal malformation,88 highrisk cases by Down's screening,36 cases with adverse pregnancy history,63 cases with amniotic fluid or chorionic chromosomal abnormalities,36 cases with husband-wife thalassemia and 22 other cases,and the detection rates were 11.11%,16.79%,5.68%,8.33%,31.74%,2.78% and 4.54% respectively.There were statistically significant differences in the detection rates of various indicated karyotype abnormalities(P < 0.05).In 680 cases of karyotype analysis of cord blood,101 cases were with abnormal karyotypes and the abnormal rate was 14.85%.Among 101 cases of abnormal karyotypes,33 cases were trisomy syndrome,including 21 cases of 21-trisomy,4 cases of 18-trisomy and 12 cases of 13-trisomy which accounted for 16.83%,3.96% and 11.88% of total karyotype abnormalities.There were 10 cases of abnormal sex chromosomes,accounting for 9.90% of the total karyotype abnormalities.There were 22 cases of chimera,accounting for 21.78% of the total karyotype abnormalities.11 cases were inverted,accounting for 10.89%of the total karyotype abnormalities.The other 21 cases accounted for 20.79% of the total karyotype abnormalities.Liver and kidney function indexes such as contents of β2-MG,(BUN),creatinine(Cr),alanine aminotransferase(ALT),aspartate aminotransferase(AST),total bilirubin(TBIL) in the abnormal neonatal group were all higher than the normal neonate group,and the difference was statistically significant(P < 0.05).Logistic regression analysis showed that the contents of β2-MG,BUN,Cr,ALT,AST and TBIL in liver and kidney function indexes of cord blood were independent risk factors affecting the prognosis of neonates.Conclusion Prenatal diagnosis of cord blood puncture on medium and late pregnancy stage is an important prenatal diagnosis technique to reduce birth defects.
引文
[1]范宝光,张玥红,王宾红,等.高通量基因测序检测稽留流产绒毛染色体异常的价值分析[J].中国妇产科临床杂志,2018,19(1):55-56.
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[10]林秀华,郭辉,肖伟伟,等.1230份孕中期脐带血染色体核型分析[J].中华医学遗传学杂志,2013,30(2):240-241.
[11]汤丽霞,禤洁甜,梁彩红,等.2054例中期妊娠产前诊断染色体核型分析[J].重庆医学,2013,11(30):3678-3680.
[12]卢丽华,邹德学,胡飞雪.627例胎儿脐血染色体核型分析[J].中国优生与遗传杂志,2013,21(6):49-50,48.
[13]罗纯.26例21三体综合征的细胞遗传学分析[J].现代预防医学,2015,42(1):125-127.
[14]李燕芳,张兰珍,田耕,等.胎儿游离DNA用于无创产前检测21、18、13三体综合征的临床研究[J].中国妇产科临床杂志,2015,16(2):126-129.
[15]罗小金,魏凤香,胡亮,等.产前胎儿染色体倒位的临床诊断分析[J].实用医学杂志,2017,33(13):2183-2185.
[2]薛会丽,李丽英,陈雪美,等.产前诊断中胎儿性染色体异常及临床分析[J].福建医科大学学报,2016,50(6):407-410.
[3]祝建疆,戚红,杨锴,等.85例超声异常胎儿的脐血染色体核型分析[J].中华医学遗传学杂志,2015,32(6):904-906.
[4]丁海耀,周文蓉.二维联合四维超声检查在先天性心脏畸形胎儿产前诊断中的应用[J].山东医药,2016,56(20):63-64.
[5]徐晓敏,王佐,郑加永,等.11568例新生儿脐带血染色体核型特征分析[J].中华医学遗传学杂志,2017,34(4):11-12.
[6]孙惟佳,陈少科,刘天盛,等.47例染色体异常核型的遗传学及临床分析[J].中华医学遗传学杂志,2015,32(2):288-290.
[7]王鼎,潘倩莹,赖炜强,等.高龄孕妇脐血遗传产前诊断的成功率及异常率分析[J].广东医学,2014,35(13):2098-2100.
[8]蔡美英,徐两蒲,李英,等.960份胎儿脐带血的染色体核型分析[J].中华医学遗传学杂志,2015,32(3):434-436.
[9]李素萍,苗正友,金玉霞,等.796份胎儿脐血染色体核型分析与产前诊断[J].中华医学遗传学杂志,2013,30(4):490-491.
[10]林秀华,郭辉,肖伟伟,等.1230份孕中期脐带血染色体核型分析[J].中华医学遗传学杂志,2013,30(2):240-241.
[11]汤丽霞,禤洁甜,梁彩红,等.2054例中期妊娠产前诊断染色体核型分析[J].重庆医学,2013,11(30):3678-3680.
[12]卢丽华,邹德学,胡飞雪.627例胎儿脐血染色体核型分析[J].中国优生与遗传杂志,2013,21(6):49-50,48.
[13]罗纯.26例21三体综合征的细胞遗传学分析[J].现代预防医学,2015,42(1):125-127.
[14]李燕芳,张兰珍,田耕,等.胎儿游离DNA用于无创产前检测21、18、13三体综合征的临床研究[J].中国妇产科临床杂志,2015,16(2):126-129.
[15]罗小金,魏凤香,胡亮,等.产前胎儿染色体倒位的临床诊断分析[J].实用医学杂志,2017,33(13):2183-2185.
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