Non-invasive prenatal screening for chromosome 21, 18, and 13 aneuploidies in a mixed risk factors pregnancy population

Non-invasive prenatal screening (NIPS) using cell-free DNA is being offered to an increasing number of pregnant women. In this observational study, the authors found chromosome 21, 18, and 13 aneuploidies in a mixed risk factors pregnancy population using NIPS, and found 23 cases with NIPS high risk. They also found that the NIPS results of two cases with hysteromyoma were positive. There were 61 cases in all with maternal gynaecological tumor and the positive rate was 3.28%, which suggests that there may be a specific relationship between them and more evidence is urgently required. Among 23 cases, most had normal results with early or middle pregnancy serologic examination or ultrasonic testing. Therefore, NIPS is more accuracy and could mostly make up for regular prenatal in diagnosis. In addition, NIPS could avoid the risks such as intrauterine infection and miscarriage caused by amniocentesis karyotyping analysis, therefore, the clinical promoter of NIPS during pregnancy is very meaningful.