A revisit of trisomy 20 mosaicism in prenatal diagnosis—an overview of 103 cases

One hundred and three cases with prenatal diagnosis of trisomy 20 mosaicism through amniocentesis were reviewed. Approximately 90 per cent (90/101) of the cases were associated with grossly normal phenotype. It is likely that, in the majority of cases, cells with trisomy 20 were extraembryonic in origin or largely confined to the placenta. However, in some cases, the cells with trisomy 20 were confined to certain specific fetal organs or tissues such as kidney, skin, etc. Cytogenetic follow-up studies in liveborns should include a culture from urine sediment.     

Prenatal diagnosis of congenital my asthenia with arthrogryposis in a myasthenic mother

We studied two children born to a myasthenic mother. The first child, a female, had multiple flexion contractures. She died 1 h after birth. In the second pregnancy, 3 years later, ultra-sonographic examination at 20 weeks showed decreased fetal movements and multiple flexion contractures. The pregnancy was interrupted. Eight other cases of congenital rnyasthenia with arthrogryposis are known; four of them are siblings. The recurrence risk may be as high as 100 per cent. Our second case demonstrates that prenatal diagnosis is possible early enough to allow termination of pregnancy.     

DNA-based prenatal diagnosis of the infantile form of neuronal ceroid lipofuscinosis (INCL,CLN1)

Eleven fetuses at risk for the infantile form of neuronal ceroid lipofuscinosis (INCL, CLN1) were studied using DNA markers and the results were compared with the results of electron microscopy (EM) of chorionic villus specimens from pregnancies in the first or early second trimester of pregnancy. In four cases, the prenatal diagnosis was made independently with both methods, and in seven cases, the EM diagnosis was confirmed postnatally or from autopsy material using RFLP analysis. The two methods gave concordant results in all cases. The DNA analysis based on RFLP haplotypes also for the first time facilitates reliable carrier diagnostics. RFLP analysis based on polymorphic markers closely linked to the INCL locus is now available for prenatal diagnosis of this fatal brain disease, whose biochemical background is totally unknown and for which no treatment is available.     

Prenatal paternity testing by dna analysis

Prenatal paternity testing was evaluated by DNA analysis in chorionic villus biopsies obtained during the 7th-22nd weeks of gestation. Using highly polymorphic variable number of tandem repeats (VNTR) probes, we analysed four cases consisting of mother/child/alleged father trios. In all cases, we were able to detect maternal and paternal alleles and could establish or exclude paternity. The application of DNA analysis represents a new important diagnostic aid for all cases that require a prenatal identification of paternity.     

Alpha-fetoprotein in fetal serum,amniotic fluid,and maternal serum

In order to gain more insight into the association between alpha-fetoprotein (AFP) and fetal chromosomal disorders, especially Down's syndrome, we measured AFP in fetal serum, amniotic fluid, and maternal serum at cordocentesis. We compared the concentration and gradient of AFP in these three compartments. Our data confirm earlier findings on second-trimester fetal serum AFP concentration. The results indicate that low maternal serum AFP in pregnancies with fetal chromosomal disorders could result from an impaired fetal kidney function as well as from impaired membrane or placental passage of AFP, rather than from reduced fetal AFP production.     

Prenatal counselling and diagnosis in progressively deforming osteogenesis imperfecta: A case of autosomal dominant transmission

A 21 -year-old woman with progressively deforming or type III osteogenesis imperfecta (OI) presented for prenatal counselling and diagnosis at 10 weeks' gestation. Family history was non-contributory. At 14.8 weeks' gestation, ultrasonographic examination revealed fetal skeletal hypomineralization, easily compressible fetal cranium, and thickened long bones, indicating that the fetus was also affected. Confirmation of the prenatal diagnosis of OI type III was made following a Caesarean section birth of a male infant with multiple skeletal deformities and blue sclerae implying, in this case, autosomal dominant inheritance.     

Effects of Cutrine-Plus® algaecide and predators on wood frog (Lithobates sylvaticus) tadpole survival and growth

Copper contamination is increasing in many aquatic ecosystems. One mode by which copper can be introduced into aquatic ecosystems is as an algaecide, such as Cutrine-Plus®. Using a mesocosm experiment, we examined the effects of Cutrine-Plus® on wood frog (Lithobates sylvaticus) tadpoles. In addition, we examined how the presence of a nonnative predator the Western mosquitofish (Gambusia affinis) may interact with exposure to Cutrine-Plus®. Exposure to our low and high Cutrine-Plus® treatments had a strong negative effect on the wood frog tadpoles, and survivorship was greatly decreased in the low treatment, and no tadpoles survived in the high treatment. Additionally, the tadpoles that survived the low treatment were significantly smaller than those in the control treatment. Mosquitofish had no effect on the survivorship or growth of wood frog tadpoles, and mosquitofish presence did not have a significant interaction with the Cutrine-Plus® treatments. Cutrine-Plus® clearly had a negative effect on wood frog tadpoles at the concentrations used in our experiment, which were at and below the label-recommended dosages, suggesting that the use of Cutrine-Plus® in natural ponds may have negative consequences for wood frog populations and possibly other amphibians.     

Statistical analysis of PM10 concentrations at different locations in Malaysia

Malaysia has experienced several haze events since the 1980s as a consequence of the transboundary movement of air pollutants emitted from forest fires and open burning activities. Hazy episodes can result from local activities and be categorized as "localized haze". General probability distributions (i.e., gamma and log-normal) were chosen to analyze the PM(10) concentrations data at two different types of locations in Malaysia: industrial (Johor Bahru and Nilai) and residential (Kota Kinabalu and Kuantan). These areas were chosen based on their frequently high PM(10) concentration readings. The best models representing the areas were chosen based on their performance indicator values. The best distributions provided the probability of exceedances and the return period between the actual and predicted concentrations based on the threshold limit given by the Malaysian Ambient Air Quality Guidelines (24-h average of 150 μg/m(3)) for PM(10) concentrations. The short-term prediction for PM(10) exceedances in 14 days was obtained using the autoregressive model.