Malinova M
Akush Ginekol (Sofiia). 2011;50(6):37-42.
Trisomy 21 (Down syndrome) is the most common chromosomal abnormality. Sonographic findings in fetuses with Down syndrome include both structural abnormalities and nonstructural abnormalities or "markers." These markers are known as "soft markers" of aneuploidy. These markers are nonspecific, often transient. The most commonly studied soft markers of aneuploidy include a thickened nuchal fold, long bones shortening, mild fetal pyelectasis, echogenic bowel, echogenic intracardiac focus, FMF angle > 90 degrees, pathologic velocity of Ductus venosus and choroid plexus cyst.
21三体综合征(唐氏综合征)是最常见的染色体异常。唐氏综合征胎儿的超声检查结果包括结构异常和非结构异常或“标记物”。这些标记物被称为非整倍体的“软标记物”。这些标记物是非特异性的,通常是暂时的。最常研究的非整倍体软标记物包括增厚的颈部褶皱、长骨缩短、轻度胎儿肾盂积水、肠回声增强、心内强回声灶、股骨内侧髁角>90度、静脉导管病理速度和脉络丛囊肿。