| 摘要: |
| ［摘要］ 目的 分析无创产前检测（NIPT）对性染色体非整倍体（SCAs）检出情况的影响，并对相关伦理问题进行思考。方法 回顾性分析2005年1月至2023年12月于广西壮族自治区人民医院接受遗传咨询及产前染色体核型分析的17 211例孕妇的临床资料。分析NIPT开展前后SCAs检出率的变化情况，以及SCAs在产前诊断中的指征分布情况。探讨影响47,XXX检出的因素。总结不同类型SCAs孕妇的妊娠选择情况。结果 在开展NIPT前（2015年之前），SCAs检出率为0.35%（20/5 680），47,XXX检出率为0.07%（4/5 680）；在开展NIPT后，SCAs检出率上升至1.35%（156/11 531），47,XXX检出率上升至0.24%（28/11 531）。2005—2023年47,XXX的检出率与总SCAs检出率（r=0.812，P<0.001）、孕妇年龄（r=0.719，P<0.001）和NIPT检测量（r=0.812，P<0.001）呈正相关。152例产前诊断结果为SCAs的孕妇中，NIPT高风险是其主要指征，占40.79%（62/152），其次为单纯高龄，占15.13%（23/152）。134例SCAs孕妇接受了随访，其中71例（52.99%）选择终止妊娠。其中47,XXX的终止妊娠率最高，为70.83%（17/24）；其次为45,X（66.67%，22/33）。结论 NIPT的开展显著提高了SCAs的检出率，但其筛查和诊断的应用涉及复杂的伦理问题。临床应积极开展遗传咨询服务，减少因认知偏差导致的不必要终止妊娠。 |
| 关键词: 无创产前检测 性染色体非整倍体 妊娠 伦理 |
| DOI：10.3969/j.issn.1674-3806.2025.06.19 |
| 分类号:R715.5 |
| 基金项目: |
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| Effect of non-invasive prenatal testing on detection of sex chromosome aneuploidies and relevant ethical considerations |
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ZHANG Peng, MO Weiying, MENG Minghui, ZHANG Hongyan
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Center for Medical Genetics and Prenatal Diagnosis, the People′s Hospital of Guangxi Zhuang Autonomous Region(Guangxi Academy of Medical Sciences), Nanning 530021,China
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| Abstract: |
| ［Abstract］ Objective To analyze the effect of non-invasive prenatal testing(NIPT) on detection of sex chromosome aneuploidies(SCAs) and to consider the relevant ethical issues. Methods The clinical data of 17 211 pregnant women who received genetic counseling and prenatal karyotype analysis in the People′s Hospital of Guangxi Zhuang Autonomous Region from January 2005 to December 2023 were retrospectively analyzed. The changes in the detection rates of SCAs before and after implementation of NIPT, as well as the distribution of indications for SCAs in prenatal diagnosis were analyzed. The factors influencing the detection of 47,XXX were explored. The pregnancy options of pregnant women with different types of SCAs were summarized. Results Before implementation of NIPT(before 2015), the detection rate of SCAs was 0.35%(20/5 680), and the detection rate of 47,XXX was 0.07%(4/5 680). After implementation of NIPT, the detection rate of SCAs rose to 1.35%(156/11 531), and the detection rate of 47,XXX rose to 0.24%(28/11 531). The detection rates of 47,XXX from 2005 to 2023 were positively correlated with the total detection rate of SCAs(r=0.812, P<0.001), the age of pregnant women(r=0.719, P<0.001), and the detection quantity of NIPT(r=0.812, P<0.001). Among the 152 pregnant women with prenatal diagnosis results of SCAs, high risk of NIPT was the main indication, accounting for 40.79%(62/152), followed by simple advanced age, accounting for 15.13%(23/152). A total of 134 pregnant women with SCAs were followed up, among whom 71 pregnant women(52.99%) chose the termination of pregnancy. Among the 71 pregnant women choosing the termination of pregnancy, the rate of termination of pregnancy in the pregnant women whose fetuses carried 47,XXX was the highest(70.83%, 17/24), followed by that in the pregnant women whose fetuses carried 45,X(66.67%, 22/33). Conclusion The implementation of NIPT significantly increases the detection rate of SCAs, but its application in screening and diagnosis involves complex ethical issues. Clinical genetic counseling service should be actively carried out to reduce unnecessary terminations of pregnancy due to the patients′ cognitive biases. |
| Key words: Non-invasive prenatal testing(NIPT) Sex chromosome aneuploidies(SCAs) Pregnancy Ethics |
