Cobben J M, Essed C E, Hirdes J, Kraayenbrink R A, Van der Veen A
Department of Medical Genetics, Groningen, The Netherlands.
Genet Couns. 1994;5(2):141-5.
Two cases of stillborn children with multiple congenital anomalies are presented. No routine karyotyping was performed. After dysmorphologic evaluation a tentative diagnosis of trisomy 18 and triploidy, respectively, could be made. Fluorescence in situ hybridisation with several chromosome specific probes on formalin fixed paraffin embedded tissue confirmed the suspected diagnosis in both cases. In view of the important consequences for the parents (relatively low recurrence risk, availability of prenatal diagnosis in subsequent pregnancies) fluorescence in situ hybridisation for the common chromosomal aneuploidies should be performed in selected cases of stillborn fetuses with multiple congenital malformations.
本文报告了两例患有多种先天性异常的死产儿。未进行常规核型分析。经过畸形学评估，分别初步诊断为18三体和三倍体。使用几种染色体特异性探针在福尔马林固定石蜡包埋组织上进行荧光原位杂交，证实了两例病例的疑似诊断。鉴于对父母的重要影响（复发风险相对较低，后续妊娠可进行产前诊断），对于患有多种先天性畸形的死产胎儿的选定病例，应进行常见染色体非整倍体的荧光原位杂交。
