Detection of fetal HLA-DQα sequences in maternal blood: A gender-independent technique of fetal cell identification

The objective of this study was to detect fetal HLA-DQα gene sequences in maternal blood. HLA-DQα genotypes of 70 pregnant women and their partners were determined for type A1. We specifically sought couples where the father, but not the mother, had genotype A1. In 12 women, maternal blood samples were flow-sorted. Candidate fetal cells were isolated and amplified by using PCR primers specific for a paternal HLA-DQα A1 allele. Fetal HLA-DQα A1 genotype was predicted from sorted cells; amniocytes or cheek swabs were used for confirmation. Six of twelve sorted samples had amplification products indicating the presence of the HLA-DQα A1 allele; 6/12 did not. Prediction of the fetal genotype was 100 per cent correct, as determined by subsequent amplification of amniocytes or cheek swabs. We conclude that paternally inherited uniquely fetal HLA-DQα gene sequences can be identified in maternal blood. This system permits the identification of fetal cells independent of fetal gender, and has the potential for non-invasive prenatal diagnosis of paternally inherited conditions.     

DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.     

Maternal age-specific risks for trisomies at 9—14 weeks' gestation

This study provides data on the incidence of fetal trisomies 21, 18, and 13 at 9–14 weeks' gestation in women aged 35–45 years and estimates of maternal age-specific risks in women aged 20–45 years. Our data from 5814 singleton pregnancies undergoing first-trimester karyotyping for the sole indication of maternal age ⩾ 35 years were combined with those from two previous reports and the incidence of the trisomies was calculated from a total of 15 793 pregnancies. Comparison of incidences at 9–14 weeks' gestation with published data at 15–20 weeks' gestation and in livebirths demonstrated that at birth the maternal age-specific incidence of trisomy 21 is 33 per cent lower than at 15–20 weeks' gestation and 54 per cent lower than at 9–14 weeks' gestation. Furthermore, the relative frequency of trisomies 18 and 13 decreases from 30 per cent at 9–14 weeks to 22 per cent at 15–20 weeks and 14 per cent at birth.     

Determinants of parental decisions to abort for chromosome abnormalities

Parental decisions concerning the continuation of pregnancy following prenatal detection of abnormal chromosomes were evaluated for 80 patients whose diagnosis and prenatal counselling were performed in our centre. Twenty-two anomalies were diagnosed by chorionic villus sampling (CVS) and 58 by amniocentesis. The severity of the chromosome anomaly and associated ultrasound findings in the first vs. second trimester were correlated with patients' decisions. No difference was found in the likelihood of parental decisions to interrupt or continue a pregnancy between CVS and amniocentesis for either the‘severe’ or the‘questionable’ group of chromosome anomalies. Ninety-three per cent of patients with severe prognosis and 27 per cent with questionable prognosis opted for pregnancy termination (p <0·0001). The association of ultrasound anomalies and termination was highly significant (p< 0·001). The severity of the chromosome anomaly, and, to a lesser extent, the visualization of anomalies on ultrasound were the major determinants of parental decisions to terminate the pregnancy. The diagnosis of an anomaly in the first trimester was no more likely ito lead to a termination of pregnancy than in the second trimester.     

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Prenatal application of fluorescent in situ hybridization (FISH) for identification of a mosaic Y-chromosome marker,IDIC(Yp)

An amniocentesis was performed at 13.3 weeks' gestation for advanced maternal age. A mosaic sex chromosome pattern was found: of 50 cells examined, 34 had a 45,X karyotype. In 14 cells with a modal number of 46, a recognizable Y was substituted by a small non-fluorescent marker. C-banding identified the marker as an isodicentric in 12 cells. In two cells, the non-fluorescent marker appeared to be monocentric and looked like a non-fluorescent del (Yq), but could have been an isodicentric Y with inactivation of one of the centromeres. Two cells with a modal number of 47 showed two copies of the monocentric marker. Fluorescent in situ hybridization with an alpha satellite Y-specific centromeric probe confirmed the Y-chromosome origin of the markers and allowed for more accurate prenatal diagnostic information.     

Petroleum and hazardous chemical spills in Newark Bay, New Jersey, USA from 1982 to 1991

Newark Bay, New Jersey, is particularly vulnerable to ecological damage from petroleum and chemical spills, as a result of the enclosed nature and shallow depth of the bay, the high frequency of shipping traffic, and the numerous chemical and petroleum transfer terminals located alongs its shores. To evaluate the potential impacts to the natural resources of this coastal estuarine ecosystem, chemical and petroleum accidents reported to the US Coast Guard (USCG) between 1982 and 1991 were compiled to determine the frequency and volume of these incidents in Newark Bay and in each of its major tributaries. Records obtained from the USCG National Response Center's computerized database indicated that more than 1453 accidental incidents, resulting in the release of more than 18 million US gallons of hazardous materials and petroleum products, occurred throughout Newark Bay during this period of time. The bulk of the materials released to the aquatic environment consisted of petroleum products, specifically No. 6 Fuel Oil (103 spills, 12 829 272 US gal) and gasoline (207 spills, 48 816 US gal). The majority of the reported incidents occurred in the Arthur Kill and its tributaries, as well as in the Kill Van Kull and the Passaic River. The results of this study indicated that the accidental discharge of petroleum and hazardous chemicals represents a significant source of chemical pollution in Newark Bay. Based on the frequency of spills and the volume of materials released to the aquatic environment, it is likely that these events are having a deleterious effect on the Newark Bay ecosystem.     

Getting the ‘pulse’ of your employees: the use of cardiovascular research in better understanding behavior in organizations

Cardiovascular disease has severe consequences for both individual betterment and organizational health. Yet, organization‐based cardiovascular research remains quite limited. This commentary addresses this void by integrating research dating from the famous Hawthorne experiments with current medical science. It then suggests future organizational research on cardiovascular health and recommends use of specific composite cardiovascular measures to advance our understanding of the organizational implications of cardiovascular disease. Copyright © 2006 John Wiley & Sons, Ltd.     

Multiscale satellite and spatial information and analysis framework in support of a large-area forest monitoring and inventory update

Many countries undertake a national forest inventory to enable statistically valid monitoring in support of national and international reporting of forest conditions and change. Canada’s National Forest Inventory (NFI) program is designed to operate on a 10-year remeasurement cycle, with an interim report produced at the 5-year mid-point. The NFI is a sample-based inventory, with approximately 18,850 2 ×2-km photo plots across the country, distributed on a 20×20-km grid of sample points; these photo plots are the primary data source for the NFI. Capacity to provide annual monitoring information is required to keep policy and decision makers apprised of current forest conditions. In this study, we implemented a multistage monitoring framework and used a Moderate Resolution Imaging Spectroradiometer (MODIS) change product to successfully identify 78% of the changes in forest cover area that were captured with a Landsat change detection approach. Of the NFI photo plots that were identified by both the Landsat and MODIS approaches as having changes in forest cover, the proportion of change area within the plots was similar (R ²?=?0.78). Approximately 70% of the Landsat-derived change events occupied less than 40% of a single MODIS pixel, and more than 90% of the change events of this size were successfully detected with the MODIS product. Finally, MODIS estimates of the proportion of forest cover change at the NFI photo plot level were comparable to change estimates for the ecoregions as a whole (R ²?=?0.95). High-temporal, low-spatial resolution imagery such as MODIS, in combination with other remotely sensed data sources, can provide information on disturbance events within a national forest inventory remeasurement cycle, thereby satisfying the interim information needs of policy and decision makers as well as the requirements of national and international reporting commitments.