1/2. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man.A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance.- - - - - - - - - - ranking = 1keywords = triploidy (Clic here for more details about this article) |
2/2. Partial mole and triploidy: screening patients with first-trimester spontaneous abortion.OBJECTIVE: To evaluate the role of histopathology in the categorization of women at risk of trophoblastic disease after early pregnancy failure associated with triploidy. METHOD: A retrospective study of histopathologic findings on 587 first-trimester spontaneous abortions for which both histologic and karyotype results were available. The incidence of chromosomal abnormalities and placental molar changes and the proportion of agreement for histologic diagnosis of triploidy were calculated. RESULTS: An abnormal chromosome complement was found in 241 (41.1%) cases, including 75 (31.1%) with trisomy, 71 (29.5%) with triploidy, 60 (24.9%) with monosomy X, and 35 with other abnormalities. molar transformations were found macroscopically in 20 triploidies, in six spontaneous abortions with a normal karyotype, in one trisomy, in one monosomy X, and in one tetraploidy. There was one complete hydatidiform mole. Complete agreement between two investigators was seen in 48 (67.6%) triploidy cases. Inter- and intra-observer degree of agreement for histologic diagnosis of triploidy was good to excellent. The sensitivity of histology ranged between 87.3 and 94.4%, the specificity between 81.7 and 85.9%, the positive predictive value between 83.1 and 86.1%, and the negative predictive value between 86.8 and 93.8%. CONCLUSION: triploidy is associated with molar changes less often in the first trimester of pregnancy than in the second or third trimester. Therefore, most triploid spontaneous abortions escape detection on the basis of ultrasound or macroscopic examination. The use of standardized criteria for detection by microscopic examination is both accurate and reproducible and should play a pivotal role in screening for women at risk of persistent gestational trophoblastic disease.- - - - - - - - - - ranking = 1.8keywords = triploidy (Clic here for more details about this article) |