| 摘要: |
| 目的：观察超声软指标前额空间比(PFSR)联合无创产前基因(NIPT)检测在早孕期胎儿染色体异常筛查中的应用价值。方法：选取2020年1月~2023年2月于我院接受早孕期羊水染色体核型检测的高危孕妇80例,均行产科超声及NIPT检测,以羊水穿刺染色体检测为金标准,比较超声软指标PFSR、NIPT及两者联合检测筛查早孕期胎儿染色体异常的应用价值。结果：80例孕妇中,经羊水染色体核型检测筛查出11例(13.75%)存在染色体异常,其中21-三体6例,18-三体2例,13-三体2例,Turner综合征1例。采用超声软指标PFSR检测筛查早孕期胎儿染色体异常的敏感性、特异性及准确性分别为63.64%、86.96%、83.75%；NIPT检测为72.73%、88.41%、86.25%；PFSR联合NIPT检测为90.91%、98.55%、97.50%。PFSR联合NIPT检测筛查的特异性及准确性均高于单一检测(P<0.05),三种检测方法的敏感性比较差异不显著(P>0.05)。结论：超声软指标PFSR联合NIPT检测能提高筛查早孕期胎儿染色体异常的应用价值,其特异性及准确性较高,值得推广。 |
| 关键词: 超声软指标 前额空间比 无创产前基因检测 早孕期 胎儿染色体异常 |
| DOI： |
| 投稿时间：2023-04-22修订日期：2023-05-19 |
| 基金项目: |
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| Application value of soft ultrasound marker prefrontal space ratio combined with NIPT in screening fetal chromosomal abnormalities in early pregnancy |
| Zhang Yumin,zhaoxianwei,xiebing,chengjieneng |
| () |
| Abstract: |
| Objective: To observe the application value of soft ultrasound marker prefrontal space ratio (PFSR) combined with non-invasive prenatal testing (NIPT) in screening fetal chromosomal abnormalities in early pregnancy. Methods: Eighty high-risk pregnant women who underwent amniotic fluid karyotyping in early pregnancy at the hospital from January 2020 to February 2023 were selected. All women were examined with obstetric ultrasound and NIPT. Amniocentesis chromosome testing was taken as the golden standard to compare the application value of soft ultrasound marker PFSR, NIPT and their combination in screening fetal chromosomal abnormalities early pregnancy. Results: Of the 80 pregnant women, 11 (13.75%) with chromosomal abnormalities were screened by amniotic fluid karyotyping, including 6 cases of trisomy 21, 2 cases of trisomy 18, 2 cases of trisomy 13, and 1 case of Turner syndrome. The sensitivity, specificity and accuracy of soft ultrasound marker PFSR for screening fetal chromosomal abnormalities in early pregnancy were 63.64%, 86.96%and 83.75%. The sensitivity, specificity and accuracy of NIPT were 72.73%, 88.41% and 86.25%. The sensitivity, specificity and accuracy of PFSR combined with NIPT were 90.91%, 98.55% and 97.50%. The specificity and accuracy of PFSR combined with NIPT were higher than those of single detection (P<0.05), but there was no significant difference in sensitivity among the three methods (P>0.05). Conclusion: Soft ultrasound marker PFSR combined with NIPT can improve the screening of fetal chromosomal abnormalities in early pregnancy, with high specificity and accuracy. |
| Key words: Soft ultrasound marker Frontal space ratio Non-invasive prenatal testing Early pregnancy Fetal chromosomal abnormality |
