An infant with trisomy 9 mosaicism presenting as a complete trisomy 9 by amniocentesis

We present a case in which amniocentesis performed at 33 weeks' gestation because of symmetrical intrauterine growth retardation and decreased amniotic fluid volume led to the prenatal diagnosis of a fetus with a karyotype of 47,XX,+9, t(1;20)(q42;p11.2) pat, i.e., with an extra chromosome 9 and a balanced translocation between chromosomes 1 and 20. At delivery, the baby showed clinical features of trisomy 9, yet chromosome analysis of the cord blood revealed no trisomy 9 cells, a finding confirmed by neonatal blood karyotyping. The balanced translocation was present in all cells. A skin biopsy confirmed trisomy 9 mosaicism with 10 per cent trisomy 9 cells. The baby died at 6 weeks and an autopsy was obtained. Chromosome analysis of different organs demonstrated different frequencies of the mosaicism of trisomy 9. The possible underlying mechanism for the discrepancy between the karyotype results by amniocentesis and those of other tissues is discussed.     

Prenatal diagnosis of ventricular septal defect and overriding aorta at 14 weeks' gestation,using trans vaginal sonography

Two fetuses with heart abnormalities were detected by transvaginal sonography at 14 weeks of gestation. In the first fetus, a ventricular septal defect and an overriding aorta were detected and a diagnosis of tetralogy of Fallot was suggested. In addition, cystic hygroma and omphalocoele were visualized and the cytogenetic study revealed trisomy 18. In the second fetus, ventricular septal defect, pericardial effusion, and omphalocoele were detected.     

Tertiary centre referral of small-for-gestational age pregnancies: A 10-year retrospective analysis

Between 1981 and 1991, 461 pregnant women between 15 and 40 weeks of gestation (mean 30 weeks) with completed follow-up were referred to our centre for prenatal diagnosis because of a small-for-gestational age (SGA) fetus or combined SGA and structural abnormality. The referral diagnosis was based either on biparietal diameter measurements or on measurement of the upper-abdominal circumference. SGA in our centre was defined as a fetal upper-abdominal circumference below the tenth centile. SGA was confirmed by ultrasound in 75 per cent of the fetuses, whilst combined SGA and fetal structural abnormality was substantiated in only 16 per cent of the fetuses. However, in our centre structural abnormality was detected in 34 fetuses who were referred because of SGA alone. Nearly half of the structurally normal SGA fetuses displayed a normal head-to-abdomen (H/A), ratio, whereas an increased H/A ratio was found in 13/15 fetuses with an abnormal karyotype. An abnormal karyotype was present in 20 fetuses, which is 7 per cent of the total SGA population. Nearly 50 per cent represented triploidy associated with oligohydramnios. SGA was confirmed by a birth weight below the tenth centile in 89 per cent, below the fifth centile in 77 per cent, and below the 2·3rd centile in 55 per cent of infants. Structural abnormality was confirmed in 65 per cent of infants, whereas in 19 per cent of infants the abnormality was missed or a misclassification was made. Perinatal mortality was 31 per cent for all SGA fetuses, 27 per cent for SGA fetuses without anomalies, and 64 per cent for SGA fetuses with structural abnormality.     

Ecological niche and in-situ control of MIB producers in source water

Odor problems in source water caused by 2-methylisoborneol (MIB) have been a common issue in China recently, posing a high risk to drinking water safety. The earthy-musty odorant MIB has an extremely low odor threshold (4–16 ng/L) and is hard to remove via conventional processes in drinking water plants (DWP), and therefore could easily provoke complaints from consumers. This compound is produced by a group of filamentous cyanobacteria, mainly belonging to Oscillatoriales. Different from the well-studied surface-blooming Microcystis, filamentous cyanobacteria have specific niche characteristics that allow them to stay at a subsurface or deep layer in the water column. The underwater bloom of these MIB producers is therefore passively determined by the underwater light availability, which is governed by the cell density of surface scum. This suggests that drinking water reservoirs with relatively low nutrient contents are not able to support surface blooms, but are a fairly good fit to the specialized ecological niche of filamentous cyanobacteria; this could explain the widespread odor problems in source water. At present, MIB is mainly treated in DWP using advanced treatment processes and/or activated carbon, but these post-treatment methods have high cost, and not able to deal with water containing high MIB concentrations. Thus, in situ control of MIB producers in source water is an effective complement and is desirable. Lowering the underwater light availability is a possible measure to control MIB producers according to their niche characteristics, which can be obtained by either changing the water level or other measures.     

Transformation of nitrogen dioxide into ozone and prediction of ozone concentrations using multiple linear regression techniques

Analysis and forecasting of air quality parameters are important topics of atmospheric and environmental research today due to the health impact caused by air pollution. This study examines transformation of nitrogen dioxide (NO₂) into ozone (O₃) at urban environment using time series plot. Data on the concentration of environmental pollutants and meteorological variables were employed to predict the concentration of O₃ in the atmosphere. Possibility of employing multiple linear regression models as a tool for prediction of O₃ concentration was tested. Results indicated that the presence of NO₂ and sunshine influence the concentration of O₃ in Malaysia. The influence of the previous hour ozone on the next hour concentrations was also demonstrated.     

Structure and antioxidant activity of phenolic compounds isolated from the edible fruits and stem bark of Harpephyllum caffrum

Antioxidant activity in edible fruits is an important characteristic in the choice of fruits for human consumption, and has profound influence on nutrition and health. Two pharmacologically active triterpenoids, β-sitosterol and lupeol, and the powerful flavan-3-ol antioxidant, (+)-catechin, were isolated from the edible fruits of Harpephyllum caffrum while a mixture of cardanols, an alkyl p-coumaric acid ester, and (+)-catechin were isolated from the stem bark. This is the first report of these compounds being isolated from this plant. The antioxidant capacity of (+)-catechin was higher than the other isolated compounds as well as the known antioxidant, ascorbic acid.     

Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination

We present a case of prenatal diagnosis of cystic fibrosis (CF) in one twin at 11–12 weeks of gestation. The parents had previously had two children, one of whom is alive and healthy and one who died of CF at the age of 2½ months. The parents were both known to be carriers of the ΔF508 mutation. Chorionic villus sampling (CVS) was performed and direct gene analysis showed that one fetus was homozygous for the ΔF508 mutation, while the other fetus did not have the mutation at all. Both fetuses had normal karyotypes. Selective termination was subsequently performed. The pregnancy continued without complications except for mild pre-eclampsia at term. The woman had a Caesarean section. The genetic diagnosis was confirmed after birth.     

Early transvaginal sonographic diagnosis of alobar holoprosencephaly

Holoprosencephaly is a cerebral anomaly resulting from incomplete cleavage of the primitive prosencephalon or forebrain. Early detection of this anomaly is very important since the most severe form is incompatible with life. The diagnosis also signals the need for a chromosomal determination since chromosomal abnormalities have been associated with this anomaly. An early diagnosis of alobar holoprosencephaly at 14 weeks' gestation, employing transvaginal sonography, is reported. Our findings are compared with prenatal transabdominal sonographic findings of holoprosencephaly which have been reported during the last decade in the literature.     

Ultrasonographic diagnosis of a fetal abdominal mass: A case of a mesenchymal liver hamartoma and a review of the literature

A case of a prenatally recognized hepatic mesenchymal hamartoma is presented and the literature reviewed. These tumors are benign and usually present in early infancy with symptoms that are related to the mass effect on adjacent organs. Radiologic methods used in the past to image this tumor include angiography and ultrasound. However, there is no specific radiologic finding, and, therefore, the diagnosis is usually made during surgery. Once the tumor is removed, the prognosis is generally good. With the increasing use of high resolution ultrasound in prenatal diagnosis, this rare tumor should be considered in the differential diagnosis of any multicystic mass found in the fetal abdomen. The recognition of a mass should then alert the physician to the need for early neonatal intervention.