【摘要】 染色体异常在新生儿的发病率约为0.1%~0.2%,其中唐氏综合征发病率最高。产前超声检查胎儿畸形伴染色体异常的价值已得到肯定,可以检查出包括21-三体、13-三体、18-三体、三倍体综合征和Turner综合征等染色体疾病。早孕或中孕期超声筛查出的2个及以上超声软指标异常,可更早提示胎儿染色体异常或结构畸形,这些软指标包括胎儿颈部皱褶、心室内强回声点、肠管强回声、脉络膜囊肿、轻度肾盂扩张、长骨短小等。本文将系统回顾常见的超声软指标,讨论其在染色体异常胎儿中风险评估价值、筛查技巧和测量标准,以期超声在产前诊断中获得更好的实用价值。更多还原

【Abstract】 Chromosomal abnormalities occur in 0.1% to 0.2% of live births,and the most common clinically significant aneuploidy is Down syndrome.Sonography can detecte other aneuploidies include trisomy 13,18,triploidy and Turner Syndrome.Ultrasound scan detects soft markers suggestive of aneuploidy during first trimester and second trimester.The most commonly studied ultrasound soft markers include Nuchal fold thickness,echogenic intracardiac focus,echogenic bowel,choroid plexus cyst,mild fetal pyelectasis and rhizomelic limb shortening,In this article,we review the most common ultrasonographic soft markers used to screen aneuploidy and discuss scan measurement criteria.We also assess the soft markers to aneuploidy risk for clinical application.更多还原