刘丹丹

【摘要】 目的：探究產前诊断中羊水细胞培养与染色体核型分析的应用及对出生缺陷的预防价值。方法：选取2017年12月-2019年12月于本院分娩的182例产妇的临床资料进行回顾性分析。将91例行常规超声产前诊断的产妇作为对照组，将91例使用羊水细胞培养与染色体核型分析进行产前诊断的产妇作为研究组。以实际情况为金标准，对比两组产前诊断情况，分析出生缺陷者的临床特征。结果：以实际情况为金标准，共62例发生出生缺陷。研究组的漏诊、误诊率均低于对照组（P<0.05），且研究组的诊断准确率明显高于对照组（P<0.05）;发生出生缺陷者的无创检查异常率、夫妻一方染色体异常率、唐氏筛查异常率、高龄产妇及不良孕产史占比均高于未发生出生缺陷者（P<0.05）。结论：将羊水细胞培养与染色体核型分析应用于产前诊断中可以降低出生缺陷的误诊率和漏诊率，进一步提高产前诊断准确率。分析异常染色体核型的检出情况，可为临床上优生优育提供重要依据，有效降低出生缺陷的发生率，值得推广应用。

【关键词】 产前诊断 羊水细胞培养 染色体核型分析 出生缺陷

Application of Amniotic Fluid Cell Culture and Chromosome Karyotype Analysis in Prenatal Diagnosis and Its Preventive Value to Birth Defects/LIU Dandan. //Medical Innovation of China， 2021， 18（14）： -155

[Abstract] Objective： To explore the application of amniotic fluid cell culture and chromosome karyotype analysis in prenatal diagnosis and the value of preventing birth defects. Method： The clinical data of 182 parturient women who delivered in our hospital from December 2017 to December 2019 were retrospectively analyzed. 91 parturient women underwent routine prenatal diagnosis by ultrasound were selected as the control group， and 91 parturient women underwent prenatal diagnosis by amniotic fluid cell culture and karyotype analysis were selected as the study group. The actual situation was used as the gold standard to compare the prenatal diagnosis of the two groups， the clinical characteristics of birth defects was analyzed. Result： According to the actual situation as the gold standard， there were 62 cases of birth defects. The rates of missed diagnosis and misdiagnosis in the study group were lower than those in the control group （P<0.05）， and the diagnostic accuracy in the study group was significantly higher than that in the control group （P<0.05）. The abnormal rate of noninvasive examination， abnormal rate of chromosome of one spouse， abnormal rate of Downs screening， the proportion of advanced maternal age and adverse pregnancy history in the patients with birth defects were all higher than those without birth defects （P<0.05）. Conclusion： The application of amniotic fluid cell culture and chromosome karyotype analysis in prenatal diagnosis can reduce the rate of misdiagnosis and missed diagnosis of birth defects and further improve the accuracy of prenatal diagnosis. The analysis of abnormal chromosome karyotype detection can provide an important basis for prenatal and postnatal care in clinical practice， and effectively reduce the incidence of birth defects， which is worthy of popularization and application.

[Key words] Prenatal diagnosis Amniotic fluid cell culture Chromosome karyotype analysis Birth defects

First-authors address： Jiamusi Maternal and Child Health Hospital， Jiamusi 154002， China

doi：10.3969/j.issn.1674-4985.2021.14.036

现阶段，降低新生儿出生缺陷的最主要方法是进行产前诊断。其中出生缺陷中以染色体病为重要因素[1]。现阶段，对孕中期孕妇进行羊膜腔穿刺，其中最为普遍和安全的诊断方法是实施羊水细胞体外培养以及染色体核型分析[2]。自20世纪首次对羊水实施体外培养以及染色体核型分析开始，通过多年的持续发展，羊水细胞的体外培养、染色体核型分析得到完善[3]。随着目前临床上新生儿出生缺陷的数量增加，羊水细胞的体外培养、染色体核型分析在产前诊断中更具有价值性[4]。本文研究分析了产前诊断中羊水细胞培养与染色体核型分析的应用及预防出生缺陷的价值，其报道如下。

1 资料与方法

1.1 一般资料 选取2017年12月-2019年12月于本院分娩的182例产妇的临床资料进行回顾性分析。纳入标准：均进行产前诊断并成功分娩;单胎妊娠;依从性高。……