Prenatal ultrasound analysis of 200 fetuses with trisomy 21 syndrome / 中国医师杂志

ABSTRACT

Objective:To analyze the prenatal ultrasound manifestation of trisomy 21 syndrome and investigate the clinical significance of prenatal ultrasound in screening 21-trisomy syndrome.Methods:A retrospective analysis of prenatal ultrasound results of 200 fetuses diagnosed with 21-trisomy syndrome by karyotype from May 2017 to August 2018 in Hunan Provincial Maternal and Child Health Care Hospital. Ultrasound abnormalities were divided into isolated soft markers, simple structural abnormalities, complex ultrasound markers. The relationship between these markers and trisomy 21 was analysed.Results:200 fetuses with trisomy 21 syndrome diagnosed by karyotype, in which 39 cases (19.5%, 39/200) abnormalities were detected by ultrasound, including soft indexes and structural abnormalities/other abnormalities. The rates of isolated soft indexes, simple structural abnormalities/ other abnormalities and complex ultrasound markers were 15.5%(31/200), 2.0%(4/200), 2.0%(4/200), respectively. The most common of soft markers in the first trimester was thickened nuchal translucency (4/18), thickened nuchal fold (13.19%, 24/182) in the second trimester, followed by nasal bone dysplasia, tricuspid regurgitation and polyhydramnios (1.65%, 3/182). The most common structural malformations in the second trimester was cardiovascular malformation (3.30%, 6/182).Conclusions:Prenatal ultrasound has a role to play in the screening of 21-trisomy syndrome, but exerts certain limitations. It is necessary to strengthen the understanding of the ultrasonographic features of trisomy 21 and improve the detection rate of abnormal indicators. Meanwhile, it should be combined with serological screening, non-invasive prenatal testing technology to increase the detection rate of trisomy 21.