Pallister-Killian syndrome diagnosed by chorionic villus sampling

The first prenatal diagnosis of Pallister-Killian syndrome by chorionic villus sampling is presented. Fetal hydrops was noted on ultrasound in early pregnancy, and the karyotype revealed isochromosome 12p mosaicism.     

Cystic hygroma: Prenatal diagnosis and genetic counselling

Six cases of cystic hygromas detected during second trimester ultrasound examination are reported: 4 fetuses (67 per cent) had a 45, X karyotype, 1 fetus had trisomy 18, 1 fetus had a normal karyotype (46,XX) and at autopsy multiple anomalies were observed. In the latter case the family history suggested an autosomal recessive pattern of inheritance. In order to reach a definite diagnosis and give proper genetic counselling when a fetus is found to have cystic hygroma, a fetal karyotype as well as a family and reproductive history should be obtained.     

Effects of mid-trimester induced abortion on the subsequent pregnancy

The outcome of the pregnancy following (a) a mid-trimester termination of pregnancy (TOP) for fetal neural tube defect (NTD) (77 women=group 1); (b) mid-trimester TOP for fetal Down's syndrome (13 women=group 2); (c) delivery of a baby with NTD (119 women=group 3) was studied. The prenatal fetal loss was relatively high in all groups. In group 1 it was similar to that found in other studies after first trimester TOP, in group 2 it was associated with advanced maternal age and the unexpected finding in group 3 was not attributable to advanced maternal age. It is suggested that a previous NTD per se might increase the risk of fetal loss in the next pregnancy. A previous mid-trimester TOP for NTD was not associated with an increase in premature labour, small for dates babies or congenital abnormality in the next pregnancy, but there was a slight increase in the number of babies weighing less than 2500 g.     

The safety of fetoscopy: (I). Effect of umbilical vessel puncture on the fetal heart rate and cord histology

The fetal heart rate (FHR) was continuously monitored during 42 umbilical vessel punctures performed at the placental insertion of the cord in 24 diagnostic fetoscopies in which pure fetal blood was obtained. In only one patient did a deceleration first appear during puncture and aspiration of fetal blood. In two patients decelerations preceded fetoscopy and in two others they began during the fetoscopy but before puncture of an umbilical vessel. In 19 patients, the FHR did not change at all during the procedure. Fetal haemorrhage after sampling was either absent or minimal. Six pregnancies were terminated because a positive diagnosis had been made and 18 healthy babies were born. Umbilical cords were examined after 7 terminations of pregnancy and after 6 deliveries. In the former group the puncture could just be seen with the naked eye and the needle track was demonstrated histologically in 6. No traces of the puncture or other abnormalities were found in the cords after delivery. Fetal blood sampling from umbilical cord vessels, particularly at the placental insertion of the cord, is the technique of choice since pure fetal blood can be obtained without increasing the risk of fetoscopy.     

Prenatal confirmation of trisomy 12 mosaicism by fetal skin biopsy

Trisomy 12 mosaicism diagnosed at 16 weeks' amniocentesis in a 42-year-old woman was not confirmed at 18 weeks' gestational age in amniotic fluid or fetal blood. Fetal skin biopsy performed at the same time did, however, allow the detection of trisomy 12 in 1 of 14 fibroblasts analysed. Fetal skin biopsy can be included within the diagnostic procedures to be performed when a level III mosaicism is found in the amniotic fluid.     

Continuous subcutaneous insulin infusion (CSII) in pregnant diabetic patients

The efficacy of the insulin infusion pump (CSII) in pregnancy was examined in 12 diabetic patients and compared with intermittent insulin therapy (IIT). In patients poorly controlled on IIT constant and rapid equilibrium was achieved with CSII (mean of glucose levels: CSII versus IIT=84 versus 137 mg/dl; S.D. = 36 versus 63 mg/dl; mean amplitude of glycemic excursion (MAGE)=65 versus 112 mg/dl. In patients well controlled on IIT, CSII led to a reduction in the variation of glucose excursions (S.D.= 29 versus 36 mg/dl; MAGE=48 versus 76 mg/dl). CSII generally produced a reduction of 20–37 per cent of daily insulin dose (in three cases there was an increase of dose with the achievement of glycemic control). Furthermore in CSII treated-patients amniotic glucose, insulin and C-peptide concentrations werefound tobeinthenormalrange(22.1±10.1 mg/dl; 5.2±2.7μ/ml; 1.25±0.71 ng/ml, respectively). All infants were horn at or near-term, had no macrosomia or neonatal problems. It is concluded that CSII is a highly efficient way to achieve normal glucose levels in pregnancy, not only in type I, hut also in type II or gestational diabetes.     

Prenatal ultrasound diagnosis of fetal scoliosis with termination of the pregnancy: Case report

Gross scoliosis of the fetal thoracic spine was diagnosed at 18 weeks gestation. The pregnancy was terminated and the fetus found to have webbing of the neck and an imperforate anus in addition to vertebral defects.     

Prenatal diagnosis of endocardial fibroelastosis

In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.     

Comparison of Nitrate Levels in Raw Water and Finished Water from Historical Monitoring Data on Iowa Municipal Drinking Water Supplies

Nitrate contamination of water sources is a concern where large amounts of nitrogen fertilizers are regularly applied to soils. Ingested nitrate from dietary sources and drinking water can be converted to nitrite and ultimately to N-nitroso compounds, many of which are known carcinogens. Epidemiologic studies of drinking water nitrate and cancer report mixed findings; a criticism is the use of nitrate concentrations from retrospective drinking water data to assign exposure levels. Residential point-of-use nitrate data are scarce; gaps in historical data for municipal supply finished water hamper exposure classification efforts. We used generalized linear regression models to estimate and compare historical raw water and finished water nitrate levels (1960s--1990s) in single source Iowa municipal supplies to determine whether raw water monitoring data could supplement finished water data to improve exposure assessment. Comparison of raw water and finished water samples (same sampling date) showed a significant difference in nitrate levels in municipalities using rivers; municipalities using other surface water or alluvial groundwater had no difference in nitrate levels. A regional aggregation of alluvial groundwater municipalities was constructed based on results from a previous study showing regional differences in nitrate contamination of private wells; results from this analysis were mixed, dependent upon region and decade. These analyses demonstrate using historical raw water nitrate monitoring data to supplement finished water data for exposure assessment is appropriate for individual Iowa municipal supplies using alluvial groundwater, lakes or reservoirs. Using alluvial raw water data on a regional basis is dependent on region and decade.     

Cancer and Non-Cancer Health Risk from Eating Cassava Grown in Some Mining Communities in Ghana

Food crops such as cassava, cocoyam and other tuber crops grown in mining communities uptake toxic or hazardous chemicals such as arsenic, and cadmium, from the soil. Cassava is a stable food for Ghanaians. This study evaluated human health risk from eating cassava grown in some mining communities in Ghana such as Bogoso, Prestea, Tarkwa and Tamso, which are important mining towns in the Western Region of Ghana. The study evaluated cancer and non-cancer health effects from eating cassava grown in the study areas in accordance with US Environmental Protection Agency’s Risk Assessment guidelines. The results of the study revealed the following: cancer health risk for Tamso, 0.098 (RME – Reasonable Maximum Exposure) and 0.082 (CTE – Central Tendency Exposure). This means that approximately 10 and 8 out of 100 resident adults are likely to suffer from cancer related cases by RME and CTE parameters respectively. For Prestea, we have 0.010 and 0.12, which also means that approximately 1 out of 100 and 10 resident adults out of 100 are also likely to suffer from cancer related diseases by RME and CTE parameters. The results of the study obtained were found to be above the acceptable cancer risk range of 1× 10⁻⁶ to 1× 10⁻⁴, i.e., 1 case of cancer out of 1 million or 100,000 people respectively.