唐氏综合征血清学筛查风险值异常孕妇选择接受无创产前基因检测的影响因素及临床价值

doi:10.3969/j.issn.1000-8535.2024.06.009

摘要/Abstract

摘要： 目的探讨唐氏综合征血清学筛查风险值异常孕妇选择接受无创产前基因检测（NIPT）的影响因素,为临床制定对应策略提供参考依据。方法选取2022年1月—2022年12月唐氏综合征血清学筛查风险值异常孕妇229例,根据是否接受NIPT分为接受组（195例）与不接受组（34例）。收集两组临床资料,采用Lasso-Logistic回归分析唐氏综合征血清学筛查风险值异常孕妇接受NIPT的影响因素。结果单因素分析显示,年龄、文化水平、居住地、家庭平均月收入、孕前优生优育检查、孕前合并生殖相关疾病、受孕方式、不良孕产史、家族史、补充叶酸、配偶意愿、NIPT认知水平、血清学风险等级是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）;Lasso回归分析筛选出7个变量,分别为年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级;Logistic回归分析,年龄（OR=6.269,95%CI：2.413~16.285）、文化水平（OR=4.119,95%CI：1.627~10.430）、家庭平均月收入（OR=5.102,95%CI：2.067~12.594）、不良孕产史（OR=5.247,95%CI：1.833~15.021）、家族史（OR=7.416,95%CI：2.952~18.629）、NIPT认知水平（OR=5.751,95%CI：2.338~14.146）、血清学风险等级（OR=7.866,95%CI：3.057~20.238）是血清学筛查异常孕妇接受NIPT的影响因素（P<0.05）。结论唐氏综合征血清学筛查风险值异常孕妇选择接受NIPT的影响因素较多,包括年龄、文化水平、家庭平均月收入、不良孕产史、家族史、NIPT认知水平、血清学风险等级,能为临床提高NIPT接受度提供指导信息。

关键词: 唐氏综合征, 血清学筛查, 风险值, 无创产前基因检测, 影响因素

Abstract: Objective To explore the influencing factors of noninvasive prenatal testing（NIPT）for pregnant women with abnormal risk value of serological screening for Down syndrome,and to provide reference for clinical development of corresponding strategies．Methods A total of 229 pregnant women with abnormal serological screening risk values for Down syndrome from January 2022 to December 2022 were selected and divided into acceptance group（195 cases）and non-acceptance group（34 cases）according to whether they received NIPT．The clinical data of the two groups were collected and Lasso-Logistic regression was used to analyze the factors influencing the acceptance of NIPT in pregnant women with abnormal serological screening risk value for Down syndrome．Results In single factor analysis,age,education level,place of residence,average monthly family income,pre-pregnancy and childbearing examination,pre-pregnancy combined with reproductive diseases,conception method,adverse pregnancy history,family history,folic acid supplementation,spouse intention,NIPT cognition level and serological risk grade were the influencing factors for the acceptance of NIPT in pregnant women with abnormal serological screening（P<0.05）．Seven variables were selected by Lasso regression analysis,which were age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level and serological risk level．Logistic regression analysis showed that age（OR=6.269,95%CI：2.413-16.285）,education level（OR=4.119,95%CI：1.627-10.430）,average monthly family income（OR=5.102,95%CI：2.067-12.594）,adverse pregnancy history（OR=5.247,95%CI：1.833-15.021）,family history（OR=7.416,95%CI：2.952-18.629）,NIPT cognitive level（OR=5.751,95%CI：2.338-14.146）and serological risk level（OR=7.866,95%CI：3.057-20.238）were independent influencing factors for NIPT acceptance in pregnant women with abnormal serological screening（P<0.05）．Conclusions There are many influencing factors for pregnant women with abnormal serological screening risk value to accept NIPT,including age,education level,average monthly family income,adverse pregnancy history,family history,NIPT cognition level,serological risk grade,etc．,which can provide guidance information for clinical improvement of NIPT acceptance．

Key words: Down syndrome, serological screening, risk value, noninvasive gene testing, influencing factor

吕佳慧, 杨海燕, 申雅琳. 唐氏综合征血清学筛查风险值异常孕妇选择接受无创产前基因检测的影响因素及临床价值[J]. 广州医药, 2024, 55(6): 631-637.

LV Jiahui, YANG Haiyan, SHEN Yalin. Influencing factors and clinical value of non-invasive genetic testing in pregnant women with abnormal risk value of serological screening for Down syndrome[J]. Guangzhou Medical Journal, 2024, 55(6): 631-637.

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