台山地区2 260例妊娠中期唐氏筛查及产前诊断的结果分析(1)
【摘要】 目的：探讨本地区孕中期唐氏筛查结果对胎儿染色体异常及不良妊娠结局的影响。方法：对2018年1月-2019年6月2 260例来本院做产前检查的孕中期妇女(15～20+6周)进行唐氏筛查，并对筛查结果高风险孕妇进行羊水细胞染色体核型分析。观察不同年齡段孕妇检查结果以及羊水细胞异常染色体核型分布情况，并跟踪随访妊娠结局。结果：在受检的2 260例孕中期妇女中，高风险检出161例(7.12%)，且21-三体综合征高风险检出率随着年龄的增加升高(字2=34.364，P=0.000)。参与羊水细胞染色体核型分析检查的孕妇共171例，共检出异常染色体核型39例，检出率为22.81%。高风险组孕妇不良妊娠结局的发生率为16.77%，高于低风险组的1.19%，差异有统计学意义(字2=15.629，P=0.000)。结论：唐氏筛查作为一种无创性的产前诊断方法，对异常染色体核型和不良妊娠结局的预估具有重要的作用。
【关键词】 孕中期 唐氏筛查 染色体核型分析 妊娠结局
Analysis of Down’s Screening and Prenatal Diagnosis in 2 260 Cases of Mid Pregnancy in Taishan Area/YANG Yuexing. //Medical Innovation of China， 2020， 17(10)： -109
[Abstract] Objective： To explore the effect of Down’s screening results on fetal chromosomal abnormalities and adverse pregnancy outcomes. Method： From January 2018 to June 2019， 2 260 pregnant women (15-20+6 week) who came to our hospital for prenatal examination were screened for Down’s disease. Chromosome karyotype analysis was performed in high-risk pregnant women. The results of Down’s screening and karyotype analysis of pregnant women of different ages were observed. The pregnancy outcomes of 2 260 pregnant women were followed up. Result： 161 high-risk pregnant women (7.12%) were detected in 2 260 pregnant women. The high risk detection rate of trisomy 21 syndrome increased with age (字2=34.364， P=0.000). A total of 171 pregnant women participated in the karyotype analysis of amniotic fluid cells， and 39 abnormal karyotypes (22.81%) were detected. The incidence of adverse pregnancy outcome in high-risk group was 16.77%， higher than that in low-risk group (1.19%) (字2=15.629， P=0.000). Conclusion： As a noninvasive prenatal diagnosis method， Down’s screening plays an important role in the prediction of abnormal karyotype and adverse pregnancy outcome.
[Key words] Mid pregnancy Down’s screening Karyotype analysis Pregnancy outcome
First-author’s address： Taishan People’s Hospital， Taishan 529200， China
doi：10.3969/j.issn.1674-4985.2020.10.026
唐氏综合征是指胎儿染色体异常导致的出生缺陷，常表现智力低下、发育迟缓、脏器发育不全、合并多种畸形等，不仅严重影响患者生存质量，对家庭、社会也带来沉重的精神压力及经济负担[1-2]。目前医学界对于唐氏综合征尚无明确、有效的预防及治疗措施，因此，必要的产前筛查及诊断尤为重要，必要时建议采取人工终止妊娠，以防新生儿出生缺陷。唐氏筛查主要是在孕中期采集母体血清，检测甲型胎儿蛋白(AFP)、人绒毛膜促性腺激素(β-hCG)、游离雌三醇(uE3)含量，并结合孕妇年龄、体重、孕周等方面来评估危险系数[3]，同时对于高危产妇行羊膜穿刺术提取羊水细胞进行染色体核型分析以进一步确诊。本研究通过分析本地区孕中期妇女唐氏筛查结果并深入理解唐氏综合征的发生，为如何提高产前诊断及降低出生缺陷提供参考依据，现报道如下。
1 资料与方法
1.1 一般资料 选取2018年1月-2019年6月来本院做产前检查的孕中期妇女2 260例。(1)纳入标准：①孕周15～20+6周;②在本院做产前检查且有意在本院分娩;③对本研究检查项目知情同意;④患者及家属依从性高。(2)排除标准：①精神疾病或严重意识障碍症患者;②心、脑、血管、肝肾等器官或系统患严重疾病者;③资料缺失或无法随访妊娠结局者。本组2 260例孕妇中，年龄21～42岁，平均(29.14±5.27)岁;初产妇1378例，经产妇882例。本研究已获得本院伦理委员会的审核批准。, http://www.100md.com(杨月星)
【关键词】 孕中期 唐氏筛查 染色体核型分析 妊娠结局
Analysis of Down’s Screening and Prenatal Diagnosis in 2 260 Cases of Mid Pregnancy in Taishan Area/YANG Yuexing. //Medical Innovation of China， 2020， 17(10)： -109
[Abstract] Objective： To explore the effect of Down’s screening results on fetal chromosomal abnormalities and adverse pregnancy outcomes. Method： From January 2018 to June 2019， 2 260 pregnant women (15-20+6 week) who came to our hospital for prenatal examination were screened for Down’s disease. Chromosome karyotype analysis was performed in high-risk pregnant women. The results of Down’s screening and karyotype analysis of pregnant women of different ages were observed. The pregnancy outcomes of 2 260 pregnant women were followed up. Result： 161 high-risk pregnant women (7.12%) were detected in 2 260 pregnant women. The high risk detection rate of trisomy 21 syndrome increased with age (字2=34.364， P=0.000). A total of 171 pregnant women participated in the karyotype analysis of amniotic fluid cells， and 39 abnormal karyotypes (22.81%) were detected. The incidence of adverse pregnancy outcome in high-risk group was 16.77%， higher than that in low-risk group (1.19%) (字2=15.629， P=0.000). Conclusion： As a noninvasive prenatal diagnosis method， Down’s screening plays an important role in the prediction of abnormal karyotype and adverse pregnancy outcome.
[Key words] Mid pregnancy Down’s screening Karyotype analysis Pregnancy outcome
First-author’s address： Taishan People’s Hospital， Taishan 529200， China
doi：10.3969/j.issn.1674-4985.2020.10.026
唐氏综合征是指胎儿染色体异常导致的出生缺陷，常表现智力低下、发育迟缓、脏器发育不全、合并多种畸形等，不仅严重影响患者生存质量，对家庭、社会也带来沉重的精神压力及经济负担[1-2]。目前医学界对于唐氏综合征尚无明确、有效的预防及治疗措施，因此，必要的产前筛查及诊断尤为重要，必要时建议采取人工终止妊娠，以防新生儿出生缺陷。唐氏筛查主要是在孕中期采集母体血清，检测甲型胎儿蛋白(AFP)、人绒毛膜促性腺激素(β-hCG)、游离雌三醇(uE3)含量，并结合孕妇年龄、体重、孕周等方面来评估危险系数[3]，同时对于高危产妇行羊膜穿刺术提取羊水细胞进行染色体核型分析以进一步确诊。本研究通过分析本地区孕中期妇女唐氏筛查结果并深入理解唐氏综合征的发生，为如何提高产前诊断及降低出生缺陷提供参考依据，现报道如下。
1 资料与方法
1.1 一般资料 选取2018年1月-2019年6月来本院做产前检查的孕中期妇女2 260例。(1)纳入标准：①孕周15～20+6周;②在本院做产前检查且有意在本院分娩;③对本研究检查项目知情同意;④患者及家属依从性高。(2)排除标准：①精神疾病或严重意识障碍症患者;②心、脑、血管、肝肾等器官或系统患严重疾病者;③资料缺失或无法随访妊娠结局者。本组2 260例孕妇中，年龄21～42岁，平均(29.14±5.27)岁;初产妇1378例，经产妇882例。本研究已获得本院伦理委员会的审核批准。, http://www.100md.com(杨月星)
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