Stipoljev F, Kos M, Kos M, Miskovi B, Matijevic R, Hafner T, Kurjak A
Department of Obstetrics and Gynecology, Medical School University of Zagreb, Hospital Sveti Duh, Zagreb, Croatia.
J Matern Fetal Neonatal Med. 2003 Jul;14(1):65-9. doi: 10.1080/jmf.14.1.65.69.
This paper presents a fetus with mosaic trisomy 9 diagnosed by chorionic villus sampling and confirmed by cordocentesis, and compares this case with published cases in order better to define the ultrasound markers confined to trisomy 9 syndrome. Detailed fetal ultrasound examination was carried out, revealing shortened femur, placental cysts and oligohydramnios. All published trisomy 9 cases with abnormal ultrasound findings were extracted from the MEDLINE database in the period from 1973 to 2002. We found 12 non-mosaic and 13 mosaic cases, including our case. The most frequent ultrasound abnormalities included characteristic cardiac, skeletal, craniofacial and central nervous system malformations. Intrauterine growth restriction and single umbilical artery were prevalent non-specific findings in both non-mosaic and mosaic groups. Parental chromosomal variations, as in our case, were not uncommon findings. When a fetus shows structural anomalies suggesting the presence of trisomy 9, karyotyping should be performed on both chorionic villi or amniocytes and fetal blood lymphocytes to enable a correct diagnosis to be made.
本文报告了一例经绒毛取样诊断为9号染色体嵌合三体并经脐血穿刺确诊的胎儿，并将该病例与已发表的病例进行比较，以便更好地确定局限于9号染色体三体综合征的超声标志物。对胎儿进行了详细的超声检查，发现股骨缩短、胎盘囊肿和羊水过少。从1973年至2002年期间的MEDLINE数据库中提取了所有已发表的有异常超声表现的9号染色体三体病例。我们发现了12例非嵌合型和13例嵌合型病例，包括我们的病例。最常见的超声异常包括特征性的心脏、骨骼、颅面和中枢神经系统畸形。宫内生长受限和单脐动脉在非嵌合型和嵌合型两组中都是常见的非特异性表现。与我们的病例一样，父母染色体变异并非罕见。当胎儿出现提示9号染色体三体存在的结构异常时，应同时对绒毛或羊水细胞以及胎儿血淋巴细胞进行核型分析，以便做出正确诊断。
