Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

An innovative technique for lake management with reference to aeration unit installed at lower lake, Bhopal, India

Water is key element in human life. All forms of life upon the earth depend upon water for their mere existence. Life & water may be aptly said to be two facets of the same coin. Most of the water bodies are getting polluted due to domestic waste, sewage, industrial waste and agricultural effluent. The present study is designed to ascertain the effectiveness of artificial aeration cum Ozonizer unit installed at Lower Lake, Bhopal for assessment of water quality. Various physico- chemical parameters like pH, Dissolved oxygen, Biochemical Oxygen demand, Chemical oxygen demand, nitrate, phosphate and bacteriological status were studied to assess the extent of deterioration in water quality of Lower lake and at the same time to assess the performance of the dual aeration system in improvement of water quality.     

Accumulation of potentially toxic elements by plants of North Caucasian Alyssum species and their molecular phylogenetic analysis

Environmental Geochemistry and Health - Accumulations of potentially toxic metals were investigated in soils and five North Caucasian Alyssum species from metalliferous areas and non-metalliferous...