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周俊,郭晓辉,周莉.680例胎儿脐血产前诊断结果分析[J].中国医药科学,19,(14):4-7        基金项目:
680例胎儿脐血产前诊断结果分析
Analysis on prenatal diagnosis results of fetal cord blood in 680 cases
  
DOI:
中文关键词:  脐血穿刺;产前诊断;染色体;肝肾功能指标
英文关键词:Cord blood puncture;Prenatal diagnosis;Chromosome;Liver and kidney function indexes
作者单位
周俊,郭晓辉,周莉 深圳市人民医院产科,广东深圳 518000 
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中文摘要:
      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。
英文摘要:
      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.
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