Department of Neonatology, Children's Hospital, University of Bonn, Germany.
Fetal Diagn Ther. 2010;27(2):113-7. doi: 10.1159/000284929. Epub 2010 Feb 16.
Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also present a review of the literature on non-urinary tract malformations in females with 47,XXX. We conclude that prenatal identification of the 47,XXX karyotype is an indication for detailed fetal ultrasonography which should include examination of multiple organ systems. Such prenatal screening for possible associated congenital malformations should help to ensure optimal perinatal clinical management of 47,XXX cases.
47,XXX 染色体核型通常在高龄产妇的产前胎儿染色体核型分析中偶然发现。虽然大多数 47,XXX 的女性在出生时看起来健康，但已经报道了各种类型的先天性畸形，其中泌尿系统异常最为常见。我们报告了 2 例 47,XXX 新生儿伴有先天性心脏缺陷，其中 1 例患有十二指肠闭锁，另 1 例患有枕部脑膨出。这扩大了与三倍 X 综合征相关畸形的范围。我们还对文献中 47,XXX 女性非泌尿系统畸形进行了回顾。我们的结论是，产前识别 47,XXX 核型是进行详细胎儿超声检查的指征，应包括多个器官系统的检查。这种对可能存在的相关先天性畸形的产前筛查有助于确保 47,XXX 病例的围产期临床管理达到最佳状态。
