No abstract

Multifocality of invasive breast carcinoma has been associated with prognostic disadvantage. Unifocal, multifocal and diffuse distributions have been recently defined for both inasive carcinomas and in situ components, and these have been combined into categories of prognostic relevance. Eight observers analyzed the same series of 30 megaslides from 29 carcinomas, and had to classify the lesions into the three distribution patterns of unifocal, multifocal or diffuse (or not present/non influential). The reproducibility of the distribution patterns of invasive carcinomas was better than that of the in situ carcinoma components, but was still only fair to moderate on the basis of kappa values. The reproducibility of DCIS was poor to slight with some kappa values reflecting agreement by chance only. The results suggest the definitions of these distribution patterns require refinements for a more reliable and reproducible diagnosis if one wants to associate prognostic information with this variable.

Since the 1970s, about 30 cases of partial or complete trisomy 17p have been presented in the literature. Partial trisomies of the short arm of chromosome 17 are somewhat more common, but complete trisomy is quite rare. Most of these cases were described in infants and newborns; and to our knowledge only 3 cases of trisomy 17p have been detected intrauterine. Phenotypic features of trisomy 17p in fetuses are intrauterine growth retardation, ventriculomegaly, cleft lip and cleft palate, micrognathia, horseshoe kidneys, single umbilical artery, and congenital heart defects. The sonographic and foetopathologic findings of a pregnancy trisomy 17p11.2—pter with the deletion of the terminal portion of the chromosome 6 due to paternal balanced translocation are described in this case report.

In a retrospective study, the authors examined the occurrence of hydrops in foetal and neonatal cases in a five-year period. During this time, the clinical and pathologic diagnosis of hydrops was established in 28 cases. In three cases, the hydrops was caused by Rh incompatibility, and in 25 cases non-immune hydrops was discovered by clinical and pathologic examination. The cause of hydrops was recognised in 25 cases and no underlying disease was discernible in three. In 12 cases, the pregnancy was spontaneously terminated. Artificial abortion was performed in four cases. In this series, four hydropic newborns died on the first week of their life. The average age in artificial abortion was 16-20 gestational week and 24 in spontaneous abortion or stillbirth. Pathologic examination revealed increased weight, oedema, ascites, and hydrothorax in all cases. In half of the cases, there was also hydropericardium. Hepatosplenomegaly, cardiomegaly, pulmonary hypoplasia, increased extramedullary hemopoiesis, and placenta oedema were seen in all the cases. Causes of the non-immune hydrops were cardiac malformation in 4 cases, chromosome anomaly in 3, cystic hygroma in 2, skeletal anomaly in 1, foeto-foetal transfusion in 3, infection in 7 and sacrococcygeal teratoma in 1 case. In two cases, the underlying disease was reported to be of maternal origin. Comparing the clinical and pathologic findings there were only three cases with absolute agreement. The underlying disease revealed by pathologic examination was regarded to be significant from respect of inheritance, therapeutic approach, and further management in 10 cases. The authors emphasise the importance of pathologic examinations in foetal hydrops and point out the significance of clinico-pathological collaboration in the decision about further management of hydropic foetuses.

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.