| 孙美云,李 扬,文晓燕,崔照领,焦红燕,封露露,李 强.孕中期超声联合无创产前基因筛查在检出染色体异常胎儿中的应用价值[J].,2023,(17):3382-3386 |
| 孕中期超声联合无创产前基因筛查在检出染色体异常胎儿中的应用价值 |
| Application Value of Mid-Term Ultrasound Combined with Non-Invasive Prenatal Gene Screening in Detecting Chromosomal Abnormalities in Fetuses |
| 投稿时间：2023-03-03 修订日期：2023-03-28 |
| DOI：10.13241/j.cnki.pmb.2023.17.035 |
| 中文关键词: 胎儿 染色体异常 孕中期 超声检查 无创产前基因筛查 |
| 英文关键词: Fetus Chromosome abnormalities Mid-term pregnancy Ultrasound examination Non invasive prenatal genetic screening |
| 基金项目:河北省医学科学研究计划项目（20210275） |
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| 中文摘要: |
| 摘要 目的：孕中期超声联合无创产前基因筛查（NIPT）在染色体异常胎儿检出中的应用价值。方法：选取2019年8月～2021年12月在石家庄市妇幼保健院产前检查的2000例孕中期孕妇，均接受超声检查和NIPT筛查。以羊水穿刺或引产后高通量测序结果为金标准，四格表法分析孕中期超声联合NIPT在染色体异常胎儿检出中的应用价值。结果：2000例孕中期孕妇中，超声检查共检出软指标异常37例，结构指标异常30例。NIPT筛查检出高风险孕妇17例，其中21-三体综合征11例、18-三体综合征6例。超声软指标和结构指标联合NIPT诊断胎儿染色体异常的灵敏度、特异度、阳性预测值、阴性预测值、漏诊率、误诊率、准确率分别为95.00%、99.95%、95.00%、99.95%、5.00%、0.05%、99.90%。结论：联合孕中期超声和NIPT可提高检出高风险染色体异常胎儿的灵敏度，降低漏诊率，对于早发现染色体异常胎儿具有重要价值，进而提高生育质量。 |
| 英文摘要: |
| ABSTRACT Objective: The application value of mid-term ultrasound combined with non-invasive prenatal gene screening (NIPT) in the detection of chromosomal abnormalities in fetuses. Methods: 2000 mid-term pregnant women who underwent prenatal examination at Shijiazhuang Maternal and Child Health Hospital from August 2019 to December 2021 were selected, all of whom underwent ultrasound examination and NIPT screening. Using the results of amniocentesis or high-throughput sequencing after induction of labor as the gold standard, the four grid table method was used to analyze the application value of mid pregnancy ultrasound combined with NIPT in the detection of chromosomal abnormalities. Results: Among the 2000 pregnant women in the second trimester, ultrasound examination detected a total of 37 cases with abnormal soft indicators and 30 cases with abnormal structural indicators. NIPT screening 17 high-risk pregnant women, including 11 cases of trisomy 21 syndrome and 6 cases of trisomy 18 syndrome. The sensitivity, specificity, positive predictive value, negative predictive value, missed diagnosis rate, misdiagnosis rate, and accuracy of NIPT combined with ultrasound soft and structural indicators in diagnosing fetal chromosomal abnormalities were 95.00%, 99.95%, 95.00%, 99.95%, 5.00%, 0.05%, and 99.90%, respectively. Conclusion: The combination of mid pregnancy ultrasound and NIPT examination detected can improve the sensitivity of screening high-risk chromosomal abnormalities in fetuses, reduce the missed diagnosis rate, and have important value for early detection of chromosomal abnormalities in fetuses, thereby improving fertility quality. |
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