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In utero sonographic diagnoses from forty-five malformed infants were correlated with their autopsy findings. Fifty-two malformations were diagnosed prenatally in 42 of the patients but 90 additional malformations were not. Nine sonographically diagnosed abnormalities were not confirmed at autopsy. Factors compromising sonographic diagnosis included: limited examinations, small fetal size, timing of examination, oligohydramnios, fetal position, nature of the malformation and unfamiliarity of the ultrasonographer with specific malformation syndromes. In vitro ultrasonography is an invaluable tool of diagnosing congenital malformations but has limitations.  相似文献   
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Intrauterine fetal demise (IUFD) in one of twins at 12 weeks of gestation was accompanied by markedly elevated maternal serum alpha-fetoprotein (AFP) at 17 and 18 weeks. Amniotic fluid AFP from the healthy surviving twin's sac at 18·5 and 23 weeks was also greatly increased along with a positive acetylcholinesterase (AChE) band. Persistently elevated AFP and positive AChE so long after fetal demise–-6·5 and 11 weeks post IUFD–-has not, to our knowledge, been previously described. In similar cases, high level ultrasound and careful placental examination at birth should be utilized to search for fetal abnormalities or multiple pregnancy with IUFD.  相似文献   
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Prenatal diagnosis of chronic granulomatous disease (CGD) was performed in four male high risk fetuses. The male sex was previously determined by an amniotic cell karyotype. Three kinds of test were performed on fetal blood obtained by umbilical venous puncture under fetoscopy at the 20th gestational week: nitroblue tetrazolium reduction (NBT) cytochemical test with phorbol myristate acetate (PMA) as activator; luminol enhanced chemiluminescence with activation by serum opsonized zymosan (STZ) or PMA; superoxide anion (0) production by measurement of the superoxide dismutase inhibitable reduction of cytochrome c with PMA as activator. Results were compared to those obtained in six fetuses investigated for other inherited diseases. In one case, absence of granulocyte defects was confirmed at birth. In three other cases, the tests showed deficient metabolic oxidative granulocytes. The pregnancy was terminated and the CGD diagnosis was confirmed on the products of abortion. The use of three different techniques performed on whole blood for CGD prenatal diagnosis is recommended instead of a single isolated test to ensure a higher confidence in the diagnosis.  相似文献   
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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.  相似文献   
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ABSTRACT: Bivariate correlation analysis has been widely used to explore relationships between stream and watershed attributes that have all been measured on the same set of watersheds or sampling locations. Researchers routinely test H0: ρ= 0 for each correlation in a large table and then go on to discuss only those that are declared “significant.” Such test results are inaccurate because no allowance is made for multiple testing, and also because the tests are not mutually independent. This paper reviews the Bonferroni approach to controlling the overall error rate in multiple testing and shows how the approach becomes impractical for large correlation tables. The Hotelling/Williams test is introduced for comparing two dependent correlations that share a variable, and numerical constraints for two such correlations are illustrated. References are also given for testing other hypothesized patterns among dependent correlations, and links to dependent correlation software are provided. The methods are illustrated for watershed and stream variables sampled in 23 small agricultural watersheds of the Willamette Valley, Oregon.  相似文献   
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The Western Governors' Association (WGA) includes both the public lands states with their issues and the plains states, which are 98% privately owned. WGA deals with most legislation affecting biodiversity, whether the effect is direct or tangential. It will probably not be possible, or desirable, for one entity to be in charge of biodiversity conservation. The Endangered Species Act, public lands laws, agricultural laws, water law, environmental laws, and funding legislation all affect biodiversity conservation and the responsibility for it. None of them on their own are enough, and most can cause harmful unintended consequences for biodiversity. The experience of western states in developing consensus principles for reauthorization of the Endangered Species Act provides an example of common-sense ways to improve management of biodiversity, notwithstanding the complexity and large stakes involved. The WGA's proposed changes call for increasing the role of states, streamlining the act, and increasing certainty for landowners and water users. To achieve sustainable conservation for biodiversity, the better question is not “Who is/should be in charge?”, it is “How do we get this done?” To answer this, we need goals, guidance, and bottom lines from federal laws, and management and oversight at the state level, but they all need to support local on-the-ground partnerships. Sustainable conservation requires the active participation of those who live there. WGA's experience in coordinating the Great Plains Partnership as well as its work with watershed efforts shed light on what to expect. Multilevel partnerships are not easy and require a different way of doing business. The ad hoc, sitespecific processes that result do not lend themselves to being legislated, fit into organizational boxes, or scored on a budget sheet. They do require common sense and a longterm perspective.  相似文献   
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