Nakagawa Miki, Hashimoto Kazumasa, Ohira Hiroki, Hamanaka Takuro, Ozaki Mamoru, Suehara Noriyuki
Department of Obstetrics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan.
Fetal Diagn Ther. 2006;21(1):68-71. doi: 10.1159/000089051.
Fetal trisomy 9, especially its nonmosaic form, is a rare chromosomal abnormality and there are only 8 cases reported to have been sonographically detected in the prenatal period. We report a case of nonmosaic fetal trisomy 9, mimicking trisomy 13 on sonographic findings at 32 weeks' gestation. Although the incidence of trisomy 9 is rare, diagnosing trisomy 9 is important because the sonographic features are similar to those of trisomies 13 and 18, and cannot to be identified by routine fluorescencein situ hybridization. Because nonmosaic trisomy 9 is universally lethal, correct diagnosis and appropriate counseling is essential in patient care and clinical management.
胎儿9三体，尤其是其非嵌合型，是一种罕见的染色体异常，产前超声检查仅报告过8例。我们报告一例非嵌合型胎儿9三体病例，在孕32周时超声检查结果类似13三体。尽管9三体的发病率很低，但诊断9三体很重要，因为其超声特征与13三体和18三体相似，常规荧光原位杂交无法识别。由于非嵌合型9三体普遍致死，正确诊断和适当的咨询对患者护理和临床管理至关重要。
