Huang Wilson H, Porto Manuel
Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of California, California, Irvine, USA.
Obstet Gynecol. 2002 May;99(5 Pt 2):956-8. doi: 10.1016/s0029-7844(02)01982-8.
Cornelia de Lange syndrome is a genetic disorder associated with delayed growth and characteristic facial features. There is no definitive biochemical or chromosomal marker for the prenatal diagnosis of this syndrome. We describe a case of Cornelia de Lange syndrome associated with an increased nuchal translucency in the first trimester.
A large nuchal translucency was identified in a fetus during a first trimester ultrasound. Subsequent second- and third-trimester sonograms demonstrated severe fetal growth restriction, limb shortening, and abnormal facial features, despite normal fetal karyotype per chorionic villus sampling. Neonatal evaluation confirmed the diagnosis of Cornelia de Lange syndrome.
Sonographic finding of an increased nuchal translucency in early pregnancy is associated with fetal aneuploidy and various structural and genetic abnormalities. Increased nuchal translucency may identify fetuses that require vigilant assessment, especially when found in association with other abnormalities.
科妮莉亚·德朗热综合征是一种与生长发育迟缓及特征性面部特征相关的遗传性疾病。目前尚无用于该综合征产前诊断的确切生化或染色体标志物。我们描述了一例在孕早期出现颈项透明层增厚的科妮莉亚·德朗热综合征病例。
在孕早期超声检查时发现一名胎儿颈项透明层增厚。随后的孕中期和孕晚期超声检查显示胎儿严重生长受限、肢体短小及面部特征异常，尽管经绒毛取样检测胎儿核型正常。新生儿评估确诊为科妮莉亚·德朗热综合征。
孕早期超声检查发现颈项透明层增厚与胎儿非整倍体及各种结构和基因异常有关。颈项透明层增厚可能提示需要进行密切评估的胎儿，尤其是当与其他异常同时出现时。
