Abnormal first trimester screen in partial deletion of chromosome 6p21: a case-report.

In this case-report we describe a 21-year-old primigravida with an abnormal first trimester screen: combined risk for Downs Syndrome was 1:90. Karyotype revealed 46,XX,del(6)(p21). Termination with Cytotec was offered because of the risk of congenital malformations and subsequent abnormalities associated with deletions in chromosome 6p. As to our knowledge no report has been written about the prenatal diagnosis of deletions on the short arm of chromosome six based on the first trimester screen. By publishing our experience we want to create awareness. This case-report shows the importance of combining prenatal screening with the biochemical tests, instead of only measuring nuchal translucency. It also shows the need for full karyotyping when invasive prenatal testing is done.

Elastomeric valves, a new design.

The convex bileaflet valve replaces the flat biflap inflow valve designed by Long Sheng Yu and the tricusp semilunair outflow valve. One reason is easier manufacturing. Convex bileaflet valves are developed for the 11, 20, 40, 70 and 140cc ventricles. Testing included curves (Cardiac Output versus Venous Pressure, Cardiac Output versus Heart rate), flow visualization studies, paint and bloodbag studies. The curves and flow visualization were done by connecting ventricles to one of our standard mock circulations. Paint and bloodbag studies were done by connecting the hearts to a bloodbag, but the bag was filled with water for the paint studies. The curves show high cardiac output, even with pumping at high heart rates (150 BPM+). The flow visualization shows a good stream through the sinus Valsalvae. No stagnating flow is visible. The bloodbag studies which provoke thrombosis show it on the edges of the heart valves, and little in the groove between the valve and the sinus Valsalvae. Heparninzation prevents the thrombosis. Results of our tests were good. The convex bileaflet valve seems to have good future.

[Percutaneous endoscopic gastrostomy in children with psychomotor retardation; less complaints and not as stressful]. / Percutane endoscopische gastrostomie bij psychomotorisch geretardeerde kinderen; minder klachten en weinig belastend.

OBJECTIVE: To evaluate the effects of percutaneous endoscopic gastrostomy (PEG) in children with psychomotor retardation. DESIGN: Prospective. METHOD: Data on symptoms, pros and cons and complications were collected by means of questionnaires from the parents of children with psychomotor retardation and severe nutritional problems in whom a PEG tube had been introduced between August 1995 and March 1998 in the department of Children's Gastroenterology and Nutrition of the Emma Children's Hospital/Academic Medical Centre in Amsterdam, the Netherlands, comparing the situations before the introduction and 6 and 18 months afterward. RESULTS: The patient group consisted of 17 boys and 23 girls with a mean age of 6 years and 3 months (range 8 months-10 years and 1 month). The frequency of vomiting and of airway infections decreased and the general nutritional condition improved. Restlessness and pain occurred less often in over half the children. The disadvantages most often reported were the logistics concerning the feeding (n = 11) and the reduced contact with the child (n = 10). Thirteen children displayed mild side effects such as skin irritation and proud flesh. Technical problems consisted of leakage (n = 11) and obstruction of the tube (n = 2). In one child, introduction of the tube was followed by a major complication. CONCLUSION: The PEG tube in this patient group reduced the frequency of complaints about nutrition and constituted a patient-friendly alternative to the nasal tube.

The effect of maternal HIV infection on maternal conditions and perinatal deaths in southwest Tshwane.

AIM: To describe the effect of HIV infection on maternal and perinatal disease in south west Tshwane. SETTING: Southwest Tshwane has a low to low-middle income urban population and is served by Pretoria West and Laudium Midwife-Obstetric Units (MOUs) and Kalafong Hospital and fourteen primary care clinics which refer to those institutions. These are all public health institutions. METHODS: Only data from women from southwest Tshwane between 1 January 2006 and 30 September 2008 was used in the study. As part of routine audit, the maternal HIV status was recorded as well as major maternal antenatal and -intrapartum complications. All perinatal deaths along with their HIV status were recorded in the Perinatal Problem Identification Programme (PPIP) and the primary obstetric cause and final neonatal cause of deaths. The causes of perinatal deaths from HIV infected, negative and unknown were analysed. RESULTS: There were 17184 births in southwest Tshwane in the time period analysed, of which mothers (86.1%) were counselled and (81.9%) were tested, and of these 21.5% HIV infected. The incidence of hypertension in the HIV infected women was 3.2% significantly lower than the 5.0% in the HIV negative group (OR 0.63, 95% CI 0.50, 0.79). There was a trend to more HIV infected women had a PPH (OR 1.21, 95% CI 0.99, 1.47). The overall caesarean section rate was 28.3% with significantly more HIV infected women having both elective and emergency caesarean sections (OR 1.21, 95% CI 1.10, 1.31). The perinatal mortality rate was 33.8/1000 births (> 500 g) in the HIV infected group and 26.1/1000 births in the HIV negative group (OR 1.30, 95% CI 1.03, 1.65) mainly due to the increased neonatal death rate. The low birth weight (LBW) rate for HIV infected women was 19.8% compared with 14.3% with HIV negative women (p < 0.0000); OR1.47, 95% CI 1.32, 1.64). There significantly more perinatal deaths due to spontaneous preterm birth, infection and intrapartum asphyxia in the HIV infected mothers. CONCLUSION: In southwest Tshwane a HIV infected mother has a decreased risk of hypertension, a trend towards increased postpartum haemorrhage and a thirty percent increased risk of having a perinatal death compared to an HIV negative mother, this is due mainly to spontaneous preterm birth, infections and intrapartum asphyxia.