|
|
|
| The analysis of ultrasound soft index combined with non-invasive prenatal DNA testing for fetal chromosomal abnormality screening |
| Wuhan Children's Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology (Wuhan Women and Children Health Care Hospital), Hubei Province, 430016 |
|
|
|
|
Abstract Objective: To explore the diagnostic value of ultrasound soft index (USI) combined with non-invasive prenatal DNA testing (NIPT) for fetal chromosomal abnormality screening. Methods: From February 2015 to March 2017, the data of 2621 pregnant women were analyzed retrospectively. All pregnant women underwent ultrasound examination, and those women with abnormal USI were given NIPT, and those women with abnormal NIPT had further completed amniocentesis for chromosome examination. All women were followed up to end of pregnancy. Results: There were 153 (5.8%) women with abnormal USI, and among them, there were 8 fetuses of women (0.3%) with abnormal NIPT, which included 6 fetuses with 21-trisomy abnormalities, 1 fetus with 18-trisomy abnormality, and 1 fetus with 13-trisomy abnormality. After amniocentesis for chromosome karyotype, these 8 fetuses with abnormal chromosome had the same results, and the coincidence rate of NIPT and chromosome karyotype by amniocentesis was 100.0%, which were all confirmed by induced labor later. In the 138 normal pregnant women, 9 women had miscarriage and 129 were delivered successfully, and all of them were conformed to normal chromosome by laboratory diagnosis. Conclusion: USI combined with NIPT can effectively detect chromosomal abnormalities of fetus, which can avoid the risk of abortion caused by invasive amniocentesis and can improve the quality of the birth population.
|
|
|
|
|
|
|
|
|
