Sifakis Stavros, Velissariou Voula, Papadopoulou Eleftheria, Petersen Michael B, Koumantakis Eugenios
Department of Obstetrics and Gynecology, University of Crete, Heraklion, Greece.
Fetal Diagn Ther. 2004 Nov-Dec;19(6):488-90. doi: 10.1159/000080160.
We report a case of trisomy 2 mosaicism detected upon amniocentesis in a woman with advanced maternal age. A mos 47,XY,+2(4)/46,XY(21) karyotype was revealed using standard GTG banding. There were no pathological sonographic findings and the fetal size was normal for gestational age at 16th week. The use of serial high-resolution ultrasound examination of the fetus to detect major abnormalities was offered as an option to the parents who, however, decided for termination of the pregnancy. Fetal autopsy did not reveal any malformations. Trisomy 2 mosaicism is associated with variable phenotypic abnormalities without a specific pattern, intrauterine growth restriction, fetal demise or stillbirth. The rarity of trisomy-2 mosaicism in prenatal diagnosis, as well as the increased risk of an abnormal outcome makes the diagnostic approach and genetic counseling difficult.
我们报告了一例在高龄孕妇羊膜穿刺术中检测到的21三体嵌合体病例。使用标准的GTG显带技术揭示了一种47,XY,+2(4)/46,XY(21)的嵌合核型。超声检查未发现病理结果，孕16周时胎儿大小与孕周相符。我们向父母提供了使用系列高分辨率超声检查胎儿以检测主要异常的选择，但他们最终决定终止妊娠。胎儿尸检未发现任何畸形。21三体嵌合体与无特定模式的可变表型异常、宫内生长受限、胎儿死亡或死产有关。21三体嵌合体在产前诊断中的罕见性以及异常结局风险的增加使得诊断方法和遗传咨询变得困难。
