Khảo sát một số chỉ số siêu âm đặc trưng trong sàng lọc hội chứng down ở quý 1 và quý 2 thai kỳ tại Bệnh viện Phụ sản Trung ương

The purpose of this research is to investigate several ultrasound markers for Down syndrome screening in the first and second trimester. A descriptive cross-sectional study was conducted on 487 pregnancies diagnosed with Down syndrome by amniocentesis and karyotyping, and 4480 unaffected pregnancies at the National Hospital of Obstetrics and Gynecology from 2012 to 2021. The obtained results showed that the rate of increased nuchal translucency in fetuses with Down syndrome was 76%, the risk of Down syndrome in fetuses with increased nuchal translucency was 11.29 times as high as in fetuses without Down syndrome. The rate of ventriculomegaly in fetuses with Down syndrome was 6.4%, the risk of Down syndrome in fetuses with ventriculomegaly was 3.82 times as high as in fetuses without Down syndrome. The absence of nasal bone was detected in 11.8% of fetuses with Down syndrome, the risk of Down syndrome in fetuses with absent nasal bone was 5.46 times higher than fetuses without Down syndrome. The rate of Cystic lymphangioma in fetuses with Down syndrome was 1.5%, the risk of Down syndrome in fetuses with Cystic lymphangioma was 3.33 times as high as in fetuses without Down syndrome. The rate of fetuses with heart defects was 4.9%, the rate of choroid plexus cyst in fetuses with Down syndrome was 3.4%; there was no difference in the rate of choroid plexus cyst between fetuses with Down syndrome and fetuses without Down syndrome.