Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of trisomy 9 mosaicism possibly limited to fetal membranes

In repeat amniotic fluid cultures mosaicism due to trisomy 9 was noted. Autopsy of the aborted female fetus showed a sinus urogenitalis and gonadal dysgenesis with absence of germ cells only. Fetal lymphocytes and skin fibroblasts had a normal karyotype but trisomy 9 was found in cells grown from placenta. It is likely that trisomic cells were limited to fetal membranes.     

Evaluation of California's safety belt law change from secondary to primary enforcement

Some states allow an officer to stop a vehicle for an observed belt law violation alone (primary). Most require that the initial stop be made for some other violation before a belt law citation can be issued (secondary). On January 1, 1993, California became the first state to implement an uninterrupted change from secondary to primary belt law enforcement. In six study communities, the percentage of drivers observed wearing seat belts increased from 58% prior to the law change to 76% soon thereafter. Drivers surveyed at DMV offices indicated that they had knowledge of the new law and were more likely to wear their belts now than in the past.     

Rapid karyotyping in prenatal diagnosis: A comparative study of the ‘pipette method’ and the ‘in situ’ technique for chromosome harvesting

Rapid karyotyping in the second and third trimesters has important implications for the management of pregnancies at risk. From September 1985 to March 1992, 735 amniotic fluid samples sent to our laboratory for rapid karyotyping from 64 different diagnostic centres of the Federal Republic of Germany were included in a comparative study on harvesting for chromosome analysis using the ‘pipette method’ or the ‘in situ’ technique. The average time between preparation of the amniotic fluid and verbal notification of the analysed karyotype was 5·41 days. The ‘pipette method’ needed on average 4·65 days, and the ‘in situ’ technique 5·97 days. In comparison with other more invasive techniques available for rapid karyotyping such as cordocentesis and placental biopsy, amniocentesis and subsequent chromosome harvesting using the ‘pipette method’ and/or the ‘in situ’ technique proved very useful and efficient. The overall incidence of chromosome aberrations was 15·3 per cent. The high rate of structural chromosome aberrations and uncommon aneuploidies found in our investigation (12 per cent) indicates that for rapid karyotyping in the second and third trimesters, conventional cytogenetic techniques cannot be replaced by faster techniques based on fluorescent in situ hybridization on interphase cells in the near future.     

Six years' experience with rapid karyotyping in prenatal diagnosis: Correlations between phenotype detected by ultrasound and fetal karyotype

From September 1985 to March 1992, 804 amniotic fluid samples from 64 different diagnostic centres of the Federal Republic of Germany were sent to our laboratory exclusively for rapid karyotyping. The average time needed for notification of the analysed karyotype was 4·65 days when the ‘pipette method’ was used for chromosome harvesting and 5·97 days when the ‘in situ’ technique was used. The overall incidence of chromosome aberrations was 15·3 per cent. Data are presented about the likelihood of abnormal ultrasound findings being caused by chromosome aberrations. These findings include polyhydramnios, oligohydramnios, growth retardation, fetal effusions, neural tube defects, craniofacial defects, heart defects, gastroschisis and omphalocele, gastrointestinal tract defects, urinogenital defects, and limb defects. In future, such data need to contain larger numbers of cases for each week of gestation. This will improve the risk evaluation for each case with abnormal ultrasound findings, which should lead to better management during pregnancy, delivery, and postnatal care for those who require rapid karyotyping.     

Geochemistry in the modern soil survey program

Elemental analysis has played an important role in the characterization of soils since inception of the soil survey in the US. Recent efforts in analysis of trace and major elements (geochemistry) have provided necessary data to soil survey users in a variety of areas. The first part of this paper provides a brief overview of elemental sources, forms, mobility, and bioavailability; critical aspects important to users of soil survey geochemical data for appropriate use and interpretations. Examples are provided based on data gathered as part of the US soil survey program. The second part addresses the organization of sample collection in soil survey and how soil surveys are ideally suited as a sampling strategy for soil geochemical studies. Geochemistry is functional in characterization of soil types, determining soil processes, ecological evaluation, or issues related to soil quality and health, such as evaluating suitability of soils for urban or agricultural land use. Applications of geochemistry are on-going across the US and are documented herein. This analytical direction of soil survey complements historic efforts of the National Cooperative Soil Survey Program and addresses the increasing need of soil survey users for data that assists in understanding the influence of human activities on soil properties.