胎儿早中孕超声软指标与染色体异常的新进展

有0.1%～0.2%的新生儿存在染色体异常,其中以唐氏综合征最常见,产前超声能够发现明显的结构畸形及超声软指标,超声软指标可以提示胎儿染色体异常,已成为其独立危险因素。常用来评价胎儿染色体异常的超声软指标有颈项透明层、颈部皮肤皱褶、脉络膜囊肿、胎儿侧脑室扩张、鼻骨发育不良、心室强回声灶、肾盂扩张、肠管强回声、胎儿短长骨及单脐动脉。现探讨胎儿染色体异常及超声软指标风险的相关性。

Recent Progress of Soft Ultrasonographic Indicators of the First and Second Trimester and Chromosomal Abnormalities

0.1%-0.2% of the neonatal have chromosomal abnormalities,the most common of which is Down syndrome.Prenatal ultrasonography scan detects suggestive of aneuploidy and soft ultrasonographic indicators,which has become an independent risk factor to predict chromosomal abnormalities.The most common soft ultrasonographic indicators include nuchaltranslucency,nuchal skin fold thickness,choroid plexus cysts,cerebral ventriculomegly,nasal bone hypoplasia,ventricular hyperechoic foci,pyelectas,echogenic bowel,rhizomelic limb shortening and single umbilical artery.Here is to discuss the correlation between fetal chromosomal abnormalities and soft ultrasonographic indicator risks.