ABSTRACT
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.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Aberrations/genetics , In Situ Hybridization, Fluorescence , Abnormalities, Multiple/pathology , Anus, Imperforate/genetics , Anus, Imperforate/pathology , Chromosome Aberrations/pathology , Chromosome Disorders , Chromosomes, Human, Pair 18 , Cleft Lip/genetics , Cleft Lip/pathology , Cleft Palate/genetics , Cleft Palate/pathology , Ectromelia/genetics , Ectromelia/pathology , Female , Fetal Growth Retardation/genetics , Fetal Growth Retardation/pathology , Fetus/pathology , Formaldehyde , Genetic Counseling , Hernia, Umbilical/genetics , Hernia, Umbilical/pathology , Humans , Infant, Newborn , Male , Ploidies , Pregnancy , Radius/abnormalities , Radius/pathology , Syndactyly/genetics , Syndactyly/pathology , Tissue Fixation , Trisomy/geneticsABSTRACT
This study was carried out as a prelude to possible implantations of cultured human fetal dopaminergic grafts in parkinsonian patients. Examination of fetal rat ventral mesencephalon tissue for morphology, viability, and dopamine content showed an optimal gestational age for neural grafting in rat experiments of approximately 17 days. Moreover, fetal rat ventral mesencephalon tissue was cultured, and neural dopaminergic cells were observed in cell culture in 4 (11%) out of 36 ventral mesencephalon specimens derived from 15- to 21-day-old rat fetuses. Human fetal donor material from elective abortions was examined for morphology and cell culture possibilities. In 48 curettements, fetal tissue was seen in 34 (71%) of these, resulting in 17 (50%) cultures containing dopaminergic cells. Both fetal rat and human cell cultures were continued for approximately 8 weeks and appeared to remain positive upon immunocytochemical dopamine staining.
