Prenatal diagnosis of carbamoyl-phosphate synthetase deficiency by fetal liver biopsy

In a pregnancy at risk for carbamoyl-phosphate synthetase (CPS) deficiency, prenatal diagnosis was attempted by fetal liver biopsy, performed at 18 weeks of gestation. CPS activity was absent and the diagnosis was confirmed after termination of the pregnancy. The technique employed for fetal liver biopsy is described together with an evaluation of its possible role in prenatal diagnosis.     

Impact of refined petroleum spills on water quality, macro-invertebrate and microbial communities of a tropical aquatic environment

Water quality characteristics, benthic macro-invertebrates and microbial communities of three first order streams in South West Nigeria were investigated to assess the effects of refined petroleum five months after spillage. All physical and chemical conditions except temperature and pH were significantly different (P<0.01) at the upstream control stations and impacted stations reflecting the perturbational stress. The benthic macro-invertebrate fauna were dominated by arthropods, but the faunal spectrum was dissimilar at all the stations studied. Sampling stations at the epicentre of the spill showed considerable reduction in faunal compositions and relative abundance. Generally, the microbial density and diversity were highest in both soil and water samples from impacted sites than in control sites. There was a significantly higher proportion (P < 0.05) of hydrocarbon utilizers in soil than in water samples in all stations except in samples from stations (P<0.05).     

First trimester diagnosis of RhO (D) with an immunofluorescence technique after chorionic villus sampling

Double indirect immunofluorescence technique (DIIF) was applied to fetal erythrocytes from vascularized chorionic villi, obtained by chorionic villus sampling (CVS) in the first trimester of pregnancy, to determine the presence of Rhesus antigen Rh (D).     

Leber und Ovulationshemmer

Since introduction of oral contraceptive steroids a variety of physiologic-adaptive and toxic side effects have been reported. A review is given. The study reports also four cases of hepatic vein thrombosis (Budd-Chiari-Syndrome-Venoocclusive disease) and three cases of benign hepatic tumors (liver cell adenoma and focal nodular hyperplasia) in young women following 2- to 5-year treatment with oral contraceptive steroids.     

HLA-A,B,C,DR typing and 17-OHP determination for second trimester prenatal diagnosis of 21-hydroxylase deficient CAH

In 18 families at risk for the HLA-linked, 21-hydroxylase deficient form of autosomal recessive congenital adrenal hyperplasia (CAH), prenatal diagnosis (PD) was performed using two methods: (1) HLA-A,B,C typing and in the latter 11 cases also DR typing of cultured amniotic fluid cells (AFC) using the standard microcytotoxicity assay, and (2) measurement of second trimester amniotic fluid 17-hydroxyprogesterone (17-OHP) concentration using gel chromatography and radioimmunoassay. The accuracy of the prenatal predictions was confirmed by postnatal HLA typing of umbilical cord blood lymphocytes and by clinical evaluation. In 16/18 families, both HLA typing of AFC and 17-OHP measurements proved informative for PD. The predictions of both methods were concordant in 14/16 families (88 per cent). In ten of these families, a normal fetus was predicted, and in four, an affected fetus; all pregnancies were carried to term and all predictions were confirmed postnatally. In 2/16 cases (12 per cent), however, the predictions were discordant: the prenatal HLA typing indicated an affected fetus, whereas the 17-OHP values predicted a normal fetus. Both pregnancies were continued and two healthy boys were delivered. The discordance proved to be due to a ‘missed’ HLA antigen in one case and to serologically cross-reactive HLA antigens in the second. Finally, in 2/18 cases, prenatal assessment of fetal genotype had to rely on HLA typing alone as 17-OHP measurement was not performed in one family and in the second family the 17-OHP values obtained were not informative due to inadvertent continuation of hormone therapy to the date of amniocentesis. In both cases, the HLA typing data accurately predicted a normal fetus. In conclusion, a combination of HLA typing of cultured AFC and 17-OHP measurements of amniotic fluid permits accurate prenatal diagnosis of CAH in most cases (88 per cent). In addition, the supplementary use of HLA-DR typing of AFC as presented here for the first time proved helpful in families with HLA-A.B homozygosity due to parental sharing of antigens and can be informative for identifying HLA-B/21-OH recombinant haplotypes.     

Subarachnoid cyst with hydrocephalus–a complication of mid-trimester amniocentesis

We report a child with a subarachnoid cyst with hydrocephalus following a mid-trimester amniocentesis. Although fetal trauma is a rare complication, it is important to stress the need to perform amniocentesis under ultrasound control. Children with neurological disease or convulsions of unknown origin in early infancy who are born to mothers who have had midtrimester amniocentesis should have a CT scan as part of the investigations to exclude this rare but nevertheless important complication.     

Biodegradation of ammonia by two stage biofiltration system

The biofiltration technique for the purification of polluted air from volatile compounds was studied. The process was realized in a modified solid-state fermentation system (SSF). The ammonia removal efficiency was investigated in one and two stage systems with inert packing material and hemoautotrofic microorganisms designed DN-1 (Pseudomonas sp.), DN-2 (Nitrisomonas sp.), DN-3 (Nitrobacter sp.) and DN-13 (Sarcina sp.). The investigations were made at different ammonia concentrations in inlet gas and packing loads. A one-stage biofiltration system with the ammonia load 0.41 g/m³h ensured the biological elimination capacity 0.33 g/m³h due to the nitrification processes. A two-stage system increased the total removal efficiency as well as the biodegradation efficiency as the result of the denitrification process.