Objective To evaluate the application value of extended non-invasive prenatal genetic testing (NIPT-plus) in prenatal screening. Methods All the NIPT-plus data were collected from Zhujiang Hospital of Southern Medical University and the Seventh Affiliated Hospital of Southern Medical University from January 2018 to June 2021. The abnormal results of NIPT-plus were validated by fetal chromosome examination through amniocentesis. The positive predictive value and negative predictive value of NIPT-plus were analyzed, and the fetal prognosis was followed up. Results A total of 2191 cases were detected, and 38 cases were abnormal (positive rate was 1.7%), among which 6 cases were chromosomal copy number variation. A total of 31 cases were confirmed by amniocentesis, of which 18 cases were consistent with the results of NIPT-plus. The total positive predictive value of NIPT-plus was 58.1%, and the negative predictive value was 100.0%. There were 5 cases of chromosome copy number variation for prenatal diagnosis, of which 3 cases were consistent with the results of NIPT-plus test and the positive predictive value was 60.0%. Conclusion The use of NIPT-plus in prenatal screening has a certain warning value for pregnant women with risk of fetal chromosomal abnormalities.
| 科 Family | 属数 Number of genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) | 属 Genus | 种数 Number of species | 占总种数比例 Percentage of total species (%) |
|---|---|---|---|---|---|---|
| 鹅膏菌科Amanitaceae | 2 | 11 | 5.26 | 鹅膏菌属 Amanita | 10 | 4.78 |
| 小菇科 Mycenaceae | 2 | 12 | 5.74 | 丝盖伞属 Inocybe | 5 | 2.39 |
| 多孔菌科 Polyporaceae | 8 | 14 | 6.70 | 蜡蘑属 Laccaria | 5 | 2.39 |
| 红菇科 Russulaceae | 3 | 23 | 11.00 | 小皮伞属 Marasmius | 6 | 2.87 |
| 小菇属 Mycena | 11 | 5.26 | ||||
| 光柄菇属 Pluteus | 5 | 2.39 | ||||
| 红菇属 Russula | 17 | 8.13 | ||||
| 栓菌属 Trametes | 5 | 2.39 |