Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

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 mosaic trisomy 9

Mosaic trisomy 9 was detected in an amniotic fluid cell culture from a 40-year-old woman evaluated because of advanced maternal age. After counselling, parents elected to terminate the pregnancy. On autopsy the fetus was found to have hydrocephalus and a single kidney. The diagnosis of trisomy 9 mosaicism was confirmed in cultured skin fibroblasts. This is the third reported case of trisomy 9 mosaicism diagnosed prenatally.     

Serum PAPP-A measurements in first-trimester screening for Down syndrome

Serum PAPP-A measurements taken from 254 women in the first trimester are reported. Eleven chromosomal abnormalities were detected. The mean serum PAPP-A levels in cases of Down syndrome were 0.44 MOM at 9 weeks gestation, 0.15 MOM at 10 weeks, and 0.29 MOM at 11 weeks. The PAPP-A level at 10 weeks was below those of pregnancies which aborted spontaneously. At 11 weeks, the pregnancies with Down syndrome recorded the lowest PAPP-A levels at that gestation. On this small sample, offering chorionic villus sampling to women with singleton pregnancies and a PAPP-A level below 0.3 MOM (approximately 6.5 per cent of this at-risk group) would have detected all the Down syndrome fetuses at 10 weeks and 50 per cent at 11 weeks without selecting those cases destined to abort. This suggests that serum PAPP-A should continue to be investigated as a potential first-trimester screening test for Down syndrome.     

Petroleum waste biodegradation with porous biomass support system (PBSS) on rotating biological contactor

A laboratory scale study was conducted to assess the feasibility of the new coupling of rotating biological contactor (RBC) plus porous biomass support system (PBSS) using polyurethane foam as porous support media to biodegrade petroleum refinery wastewater. Polyurethane foam was attached on disks of two four-stage laboratory scale cascade connected RBC units.The two RBC units were operated simultaneously at different but constant, flowrates giving hydraulic loading rates of 0.01, 0.02, 0.03, 0.04 m3/m2/d in two runs keeping the same rotational speed 10 r/min throughout. Organic loading was a less controllable factor in this study.For all of the hydraulic loadings, it was found that the removal efficiency of total chemical oxygen demand (TCOD) and oil were above 80 percent. Ammonia nitrogen and phenol removal were above 90 and 80 percent respectively. The maximum biomass concentration within polyurethane foam was about 30 g/m2 in the first stage for 0.03 m3/m2/d hydraulic loading.The results show that t