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Prenatal examinations, including serological screening and ultrasound screening, are the methods determining a risk of fetal chromosomal disease. The current study is aimed to assess whether ultrasound screening can effectively assist the screening for fetal chromosomal disease among pregnant women with a single abnormal serum marker. Following serologic screening, pregnant women at 18‑32 weeks underwent systematic fetal ultrasound analysis. In this study, 99 pregnant women with an abnormal serum marker and fetal ultrasound abnormalities underwent prenatal diagnosis of amniotic fluid or umbilical cord blood, with confirmation by pathological examination performed following birth or induced labor. A total of 95 cases with an abnormal serum marker but no fetal ultrasound abnormalities were used as the control group, and underwent prenatal karyotype analysis. The rate of fetal chromosomal abnormalities of women with ultrasound abnormalities was significantly higher than in the control group. The fetal chromosomal abnormalities rate in pregnant women with a history of abnormal gestation/birth was higher than in pregnant women with a normal history. The present results suggest that ultrasound examination can facilitate screening for fetal chromosome abnormalities in pregnant women with a single abnormal serum marker.

Middle pregnancy ultrasound screening for fetal chromosomal diseases