Prenatal diagnosis and outcomes of five cases of mosaicism for an isochromosome of 20q

Five cases of mosaicism for an isochromosome of 20q have been detected from a total of 50 000 cases analysed for prenatal diagnosis by amniocentesis. Karyotypes were designated mos 46,X_/46,X_,i(20q). In all cases, the abnormal cell line was detected in more than one primary culture, thus fulfilling the criterion for true (level III) mosaicism. Indications for prenatal diagnosis were parental anxiety (two cases), low maternal serum alpha-fetoprotein (AFP) (two cases), and high maternal serum AFP (one case). Level II ultrasounds on all five fetuses were normal, and the abnormal cell line was never detected in fetal blood and/or cord blood. All five pregnancies were continued and had normal outcomes, with birth weights ranging from 2.4 to 3.8 kg. The development of all five children has been normal, with the oldest child in the study now 4 years of age. We suggest that the abnormal cell line in each case was of extrafetal origin, and that this may be one of the more common examples of this phenomenon, occurring in approximately 1/10000 prenatal diagnoses. Mosaicism i(20q) may have been missed in the past because of the higher resolution necessary to detect this subtle change.     

Prenatal diagnosis for dystrophia myotonica using the polymerase chain reaction

The polymerase chain reaction has been used to detect an abundant class of short repeat DNA families of the form (dC-dA)n.(dG-dT)n, known as microsatellites. These units are found throughout the human genome and have been characterized for several loci including APOC2 on chromosome 19ql2-ql3.2. The locus APOC2 is linked to the gene for dystrophia myotonica and a microsatellite within this locus was used to derive polymorphisms in a family to predict the inheritance of the disease. Chorionic villus sampling (CVS) was performed at 151/2 weeks' gestation. Following DNA extraction from the CVS material and parental blood samples, microsatellite analysis was carried out by the polymerase chain reaction.     

Chorionic villus sampling: Analysis of fetal losses to delivery,placental pathology,and cervical microbiology

A population of 1639 patients were seen for chorionic villus sampling (CVS). Embryonic death was identified at ultrasound in 5.3 per cent of patients. The number of patients undergoing CVS was 1551, with 1416 transcervical procedures and 135 transabdominal procedures. The most common indication for CVS was advanced maternal age. Spontaneous pregnancy losses identified by increased risk of pregnancy loss with increasing aspiration attempts. The total fetal loss for this population was 5.4 per cent with the pregnancy loss estimated due to procedure being 1.2 per cent. Analysis of placentae from patients having CVS and amniocen-tesis showed no differences. Microbiological assessment prior to CVS was similar to previous publications.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

Evaporating liquid flow in a channel (An integral model based on shallow water flow approximation)

Liquefied Natural Gas (LNG) storage facilities generally include channels to convey potential spills of the liquid to an impoundment. There is increasing concern that dispersion of vapors generated by flow of LNG in a channel may lead to higher than limit vapor concentrations for safety at site boundary from channels that may be close to the dike walls. This issue is of recent concern to regulatory agencies, because the calculation of vapor hazard distance(s) from LNG flow in a channel is not required under existing LNG facility siting standards or regulations.An important parameter that directly affects the calculated LNG vapor dispersion distance is the source strength (i.e., the rate of vaporization of LNG flow from the wetted channel surfaces, as a function of spatial position and time). In this paper a model is presented which considers the variation of the depth of the flowing LNG with spatial location and time, and calculates the spatial and temporal dependence of the mass rate of vapor generation. Self similar profiles for the spatial variation of the thermal boundary layer in the liquid wetted wall and liquid depth variation are assumed. The variation with time of the location of the liquid spread front and the evaporation rate are calculated for the case of a constant LNG spill rate into a rectangular channel. The effects of two different channel slopes are evaluated. Details of the results and their impact on dispersion distances are discussed.     

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.     

Urban heat indicator map for climate adaptation planning

By 2050, 75 % of the world’s population will live in cities and the occurrence of heat wave events might have doubled. Mapping the climate and land use change impact for urban heat events should set the agenda for adaptation planning at the local scale. Literature on urban heat mapping does not reveal a clear indicator to visualise the urban heat impacts that includes consequences of land use and climate changes for planning purposes. This paper introduces a stepwise approach to develop a single complex indicator to map the urban heat impact for local climate adaptation planning processes. Information on climatic drivers and land use characteristics are combined and projected for future land use and climate change impacts. Next, several visualisation techniques are developed to investigate which techniques are most effective to visualise complex information with multiple variables in one visualisation. A usability test is performed to investigate how indicator and map meet the information and communication needs of policy makers. Our findings reveal that it is important to add information on future impacts to set the agenda for adaptation planning at the local scale. Applying cartographic techniques in a map series presentation has proven to be effective to map complex information in a single image and fulfil most of the identified information needs. Based on our finding, we introduce the information enrichment chain as a promising approach to support local adaptation planning.