1. 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.
- Author
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孙美云, 李 扬, 文晓燕, 崔照领, 焦红燕, 封露露, and 李 强
- Subjects
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TRISOMY 18 syndrome , *FETAL abnormalities , *INDUCED labor (Obstetrics) , *PREGNANT women , *PRENATAL genetic testing - 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. [ABSTRACT FROM AUTHOR]
- Published
- 2023
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