Abstract
Abstract
Objective
To carry out a retrospective cohort study focusing on prevalent soft markers observed in fetal ultrasounds, follow up the incidence of trisomy 21, 18 and 13, and investigate the positive predictive values of single and multiple soft markers for common chromosomal aneuploidy abnormalities.
Methods
A total of 19,997 pregnant women with ultrasound-detected soft markers underwent non-invasive prenatal testing (NIPT) or amniocentesis for karyotype analysis and evaluation of chromosomal copy number variations, with their pregnancy outcomes subsequently monitored. The risks of trisomy 21, 18, and 13 associated with various ultrasound soft markers were subjected to statistical analysis.
Results
A total of 5,530 pregnant women underwent amniocentesis directly, while 14,467 cases received non-invasive prenatal testing (NIPT), among which 23 high-risk cases proceeded to further amniocentesis. Out of 19,997 fetuses exhibiting ultrasound soft markers, 105 were identified with common chromosomal aneuploidy changes, including 93 cases of trisomy 21, 11 cases of trisomy 18, and 1 case of trisomy 13. The overall positive detection rate was 0.53%. Based on the incidence of common chromosomal aneuploidy abnormalities relative to the risks associated with amniocentesis, the ultrasound soft markers were classified into two categories: high-risk (≥ 0.5%) and low-risk (Conclusions
Chromosomal detection strategies can be selected reasonably based on the varying risks of common chromosomal aneuploidy associated with different ultrasound soft markers according to this study. For pregnant women with high‑risk ultrasound soft markers, amniocentesis for prenatal diagnosis is recommended in genetic counseling regardless of the number of soft markers. Amniocentesis is also recommended for those with three or more ultrasound soft markers. For women with one or two low‑risk ultrasound soft markers, NIPT targeting common aneuploidies can be an option under fully informed consent. In this way, medical resources can be reasonably allocated and utilized.