Simplicity versus efficiency in sampling designs and estimation

Simplicity and efficiency in design and estimation are all important in deciding on sampling strategies. A simple model is given and illustrated for four practical situations to show how a good sampling strategy should be selected.The U.S. Government right to retain a non-exclusive, royalty free licence in and to any copyright is acknowledged.     

A first trimester trisomy 13/trisomy 18 risk algorithm combining fetal nuchal translucency thickness,maternal serum free β-hCG and PAPP-A

This study examines 45 cases of trisomy 13 and 59 cases of trisomy 18 and reports an algorithm to identify pregnancies with a fetus affected by trisomy 13 or 18 by a combination of maternal age fetal nuchal translucency (NT) thickness, and maternal serum free β-hCG and PAPP-A at 11–14 weeks of gestation. In this mixed trisomy group the median MoM NT was increased at 2.819, whilst the median MoMs for free β-hCG and PAPP-A were reduced at 0.375 and 0.201 respectively. We predict that with the use of the combined trisomy 13 and 18 algorithm and a risk cut-off of 1 in 150 will for a 0.3% false positive rate allow 95% of these chromosomal defects to be identified at 11–14 weeks. Such algorithms will enhance existing first trimester screening algorithms for trisomy 21. Copyright © 2002 John Wiley & Sons, Ltd.     

A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis

The presence of maternal cells in fetal samples constitutes a serious potential source for prenatal misdiagnosis. Here we present our approach for detecting maternal cell contamination (MCC) at prenatal diagnosis for eight monogenic disorders (autosomal recessive: β-thalassaemia, sickle-cell anaemia, cystic fibrosis, prelingual deafness; autosomal dominant: achondroplasia, Huntington disease, myotonic dystrophy, neurofibromatosis type I; X-linked: spinobulbar muscular atrophy). Our aim was to apply a simple and low-cost approach, which would easily and accurately provide information on the fetal tissue MCC status. MCC testing was applied to cases of recessive inheritance where the primary mutation screening of the fetus revealed the presence of the maternal mutation, to cases concerning dominant inheritance and to cases of multiple gestation. The potential presence of maternal cells was determined by the amplification of the 3′-HVR/APO B, D1S80, THO1 and VNTRI of vWf polymorphic loci, which have previously demonstrated high heterozygosity in Caucasians. Among 135 prenatal diagnoses, 44 finally needed to be tested for MCC (32.6%). MCC was detected in four cases, where DNA was isolated directly from chorionic villi samples (CVS), and in one case with DNA isolated directly from amniotic fluid (AF). In almost 90% of cases a simple test of one polymorphic locus provided sufficient information about MCC. The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC. Copyright © 2002 John Wiley & Sons, Ltd.     

Sustainability: a Dissent

Abstract:  Broadly conceived and considered in its many usages, sustainability has grave defects as a planning goal, particularly when used by conservationists: it confuses means and ends; it is vague about what is being sustained and who or what is doing the sustaining; it is uninspiring; it is little more than Pinchot-era conservation (and thus ignores the many lessons learned since then); it need not be linked to land, to the land's functioning, or to any ecological science; it need not include a moral component; it is consistent with the view of humans as all-powerful manipulators of the planet; and, in general, it is such a malleable term that its popularity provides only a facade of consensus. When sustainability is defined broadly to include the full range of economic and social aspirations, it poses the particular risk that ecological and biodiversity concerns will be cast aside in favor of more pressing human wants. Given these many defects, the conservation movement should discard the term in favor of a more alluring goal, attentive to nature and its ecological functioning. A sound goal would incorporate and distill the considerable ecological and moral wisdom accumulated since Pinchot's day while giving conservationists the rhetorical tools needed to defend the land against competing pressures. In our view, conservation would be well served by an updated variant of "land health," Aldo Leopold's ecologically grounded goal from the 1940s. Land health as an independent understanding should set the essential terms of how we live and enjoy the earth, providing the framework within which we pursue our many social and economic aims.     

Magnetic resonance image findings of placental lake: report of two cases

Two cases with a large cystic mass within the placenta are reported. By ultrasonography, it was found that both women had a subchorionic hypoechoic lesion (11.0 × 4.8 × 4.0 cm and 6.6 × 3.7 × 2.2 cm, respectively) at 24 and 35 weeks of gestation, respectively. In both cases, turbulent blood flow generated by a pulsatile jet flow (pulse rate; 40 to 60 beats per minute) into the cystic lesion seen on real-time imaging and lesions being low intensity on T1-weighted and isointensity on T2-weighted magnetic resonance image suggested that they contained fresh maternal blood. In both cases, the sonolucency of the lesions did not change until cesarean deliveries of females, both of whom were small-for-gestational-age infants (1940 g at 37 weeks and 2195 g at 37 weeks, respectively). Biochemical analysis of the fluid in the cystic lesion sampled during the cesarean section in the latter case confirmed that the fluid had originated from the maternal blood. These lesions histologically corresponded to large avillous areas surrounded by normal villi. Thus, a huge placental lake was diagnosed in both cases. Copyright © 2005 John Wiley & Sons, Ltd.     

Loss of genetic diversity in Harpacticoida near offshore platforms

Offshore oil and gas production platforms can be a source of chronic stress that could lead to sublethal impacts on resident benthic organisms. In June 1993 and January 1994, genetic diversity of Harpacticoida (Copepoda) living proximal to operating, offshore platforms in the Gulf of Mexico was estimated to test if platforms are associated with strong selective pressures. Because harpacticoids have short generation times and direct benthic development, they are suitable organisms for examining population responses. Genetic diversity was estimated by comparing restriction fragment length polymorphisms generated from mitochondrial DNA amplified by the polymerase chain reaction on individuals of five species (Cletodes sp., Enhydrosoma pericoense, Normanella sp., Robertsonia sp., and Tachidiella sp.). Populations living at Near regions (stations<50 m from a platform) had significantly less haplotype diversity than populations of the same species living at Far regions (stations>3 km from a platform). The levels of haplotype diversity exhibited by the Far populations were similar at three different platforms located hundreds of kilometers apart. The differences in haplotype diversity between Near and Far regions were the result of a higher proportion of dominant haplotypes, and a loss of less common haplotypes. Haplotypic diversity was inversely correlated with a multivariate measurement of levels of sediment contaminants. The pattern of haplotype diversity on the Gulf of Mexico continental shelf seems to consist of a uniform level of haplotype diversity, punctuated by islands of lower diversity around oil and gas platforms. The selective pressures that lead to a loss of genetic diversity may be the result of contaminants, other differences in the physico-chemical environment, or disturbance in general.