1/5. Tracheal agenesis revisited: analysis of associated anomalies.We describe five new cases of tracheal agenesis and report on epidemiological and numerical analyses of nearly 100 such cases with multiple congenital anomalies. Malformations seen with tracheal agenesis form patterns which overlap with, but are distinct from, VACTERL association. They have a high frequency of other lower respiratory tract anomalies; e.g., laryngeal atresia and lung lobation defects, and complex heart anomalies, but fewer anal and vertebral malformations. Cluster analysis of the malformations in 86 patients identified four consistent groups. Anomalies in the first group were primarily restricted to the trachea, larynx, and cardiovascular system. In the second group, the patients had more severe cardiac defects, and lung lobation anomalies, while in the third they had a caudal component in addition to thoracic abnormalities, with anal and renal anomalies being common. Each of these groups showed a male excess and may represent increasingly severe perturbations in development fields encompassing the developing respiratory tract. Although the nature of the causative insult is unknown and probably heterogenous, one underlying pathogenetic mechanism may be abnormal epithelial-mesenchymal interactions. patients in the fourth group also had multisystem involvement with a high incidence of aberrant vessels, complex cardiac malformations, lung lobation defects, and anomalies of other foregut derivatives. The sex ratio in this group was normal and such cases could represent a disturbance in the primary development field during blastogenesis with secondary vascular disruptions. Complete tracheal agenesis is a lethal anomaly. However, segmental forms may be correctable and, in this group of infants, the nature of associated anomalies may well determine long-term prognosis.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
2/5. autopsy findings in a series of five cases of fetomaternal haemorrhages.AIMS: Fetal blood cells enter the maternal circulation in up to 95% of pregnancies, but usually in minute volumes. Haemodynamically significant fetomaternal haemorrhage (FMH) is a much rarer event reported in approximately 1 in 2800 pregnancies. Most of the literature on this phenomenon emphasises the clinical aspects, and there is no comprehensive description of the autopsy findings. We present a series of five fatal FMH. The aim of this series is to highlight some of the autopsy findings that may prompt consideration of a diagnosis of FMH and lead to appropriate confirmatory testing and counselling of the affected couple. methods: The five cases were referred to the Children's Hospital at Westmead for full autopsy. A Kleihauer-Betke test was performed on the mother's blood within one week of delivery in each case. RESULTS: The infants ranged in age from 27 to 40 weeks gestation (mean 36.6 weeks) with a mean birth weight of 2793 g. The estimated volumes of fetal blood lost ranged from 443 to 104 mL (mean loss 243 mL). The estimated percentage of fetal blood volume loss was an average of 107% (i.e., greater than the entire blood volume of the fetus). No other causes of hydrops were identified. pallor was often noted, and in most cases the autopsies were markedly bloodless with large vessels collapsed. Where the brain:liver ratio could be applied, two fetuses showed a mild increase in ratio, while one infant showed moderate growth restriction with a ratio of 6.2:1 (normal ratio 2.8:1 on non-macerated fetuses over 28 weeks gestation). Placental abnormalities included thrombosis of the umbilical vein and intervillous 'haematomas' in two cases. The most striking microscopic feature was the presence of intravascular nucleated RBC within virtually all organs. Placental intervillous (i.e., within the maternal vascular compartment) nucleated red blood cells were also seen in all cases. CONCLUSIONS: The autopsy findings of FMH can be subtle and easily overlooked unless a high index of suspicion is maintained. The most reliable autopsy features are pallor, subcutaneous oedema or serous effusions, and intravascular nucleated red blood cells (RBC) in organs or more specifically in the placental intervillous space. In all cases of unexplained fetal death a Kleihauer-Betke test should be performed.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
3/5. Acardiac acephalic monster extremely larger than its co-twin. A case report.The acardiac monster represents a rare but one of the severest congenital anomalies which occur only in multiple pregnancy. The affected fetus is sustained by a parasitic anastomosis to the umbilical blood vessels of the normal fetus. We report an interesting case of a macrosomic acardiac acephalic fetus weighing 4.5-fold of another variable donor fetus (approximately 6 kg) in a twin pregnancy.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
4/5. Acute polyhydramnios complicating twin pregnancies.Acute polyhydramnios in the second trimester is a typical complication in monozygous twin pregnancies. It is caused by a feto-fetal transfusion with anemia on the donor and polycythemia on the recipient twin. Contrary to the chronic hydramnios, there is no increase in malformations. In view of the high mortality rate (100%, according to most authors), the clinical management has to be reconsidered. During the years 1979 to 1983, 10 cases of acute polyhydramnios have been observed at the University Hospital in Zurich. This corresponds to an incidence of 9% in our twin population. All cases investigated were MZ twin pregnancies. With the exception of one patient, who underwent an abortion, all women were hospitalized, had bed rest and received recurrent removals of amniotic fluid and prophylactic tocolysis. The mean gestational age at the time of diagnosis was 23 4/7 weeks and at delivery 30 3/7 weeks. In two cases--one of which is presented in detail--with an unintentional puncture of a placental vessel, the recurrence of the hydramnios did not appear. Eight of 18 newborns survived. No malformations were found. bed rest, tocolysis and recurrent amniocenteses seem to have a positive influence on the prolongation and outcome of the gestation in acute polyhydramnios.- - - - - - - - - - ranking = 1keywords = vessel (Clic here for more details about this article) |
5/5. Congenital misalignment of pulmonary vessels: an unusual syndrome associated with PPHN.We report a case of misalignment of pulmonary vessels and review the clinical features of all 13 cases reported to date. All were term infants dying from severe persistent pulmonary hypertension of the newborn. We have identified a triad of features that will alert neonatal clinicians to the possibility of this diagnosis: association with other non-lethal congenital malformations; delayed onset of presentation (especially after 12h); and severe hypoxaemia refractory to conventional therapy. We recommend that any autopsy on newborn infants include a specific search for misalignment of pulmonary vessels to outline the pathophysiology and clinical significance of this disorder.- - - - - - - - - - ranking = 6keywords = vessel (Clic here for more details about this article) |