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1.
Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd. 相似文献
2.
Lisa G. Shaffer Justine Coppinger S. Annie Morton Sarah Alliman Jessica Burleson Ryan Traylor Cathryn Walker Steve Byerly Allen N. Lamb Roger Schultz J. Britt Ravnan Catherine D. Kashork Beth S. Torchia Scott Sulpizio Kyle Sundin Mack Schermer Karl Adler Stephanie Dallaire Blake C. Ballif 《黑龙江环境通报》2011,31(8):778-787
3.
Renal abnormalities are some of the commonest and most easily detectable anomalies on ultrasound. Many are an isolated finding but the prognosis may be altered considerably by the detection of other anomalies which could indicate a genetic disorder or syndrome. It is often easier to detect presupposed anomalies and the purpose of this article is to introduce and discuss those syndromes that may present with a renal abnormality on ultrasound. Common renal findings are presented with the range of additional anomalies that should be sought and suggested diagnostic tests. It should be remembered that although for many genetic conditions specific mutation analysis is now available, this usually requires pre‒pregnancy investigations. Furthermore, in some cases the definitive diagnosis may not be suspected until post mortem. By this time it may be too late to establish a cell line to confirm the suspicion using laboratory methods. It is therefore important to take tissue samples antenatally where possible, or at delivery, as postnatal samples may have a high culture failure rate. Copyright © 2001 John Wiley & Sons, Ltd. 相似文献
4.
In this study, the variations of serum glycoproteins after exposure to ricin toxin (RT) in Wistar albino rats are reported. For glycopeptide enrichment, Microcon YM-3 centrifugal filter device capture and micro-liquid chromatography (LC)–electrospray ionization (ESI)–tandem mass spectrometric (MS/MS) analysis were used; 74 trypsin-digested proteins were identified in the control group, and 58 in the RT-intoxication group. Additionally, 33 N-glycosides and 14 glycoproteins were identified in the control, and 50 and 21 in the RT-intoxication group. 相似文献
5.
Carin Magnhagen 《Behavioral ecology and sociobiology》2007,61(4):525-531
The connection between risk-taking behaviour and exploratory behaviour in young-of-the-year perch (Perca fluviatilis) was studied in aquarium experiments to see whether individual behaviour patterns could be identified in this species and
also to investigate how individual behaviour is influenced by their social environment. Risk-taking was defined as the time
spent foraging in an open area vs hiding in the vegetation in the presence of a piscivore. Explorative behaviour was measured
as latency to enter a passage leading to an unknown area. Groups of four fish were used for the observations, and both behaviours
measured were positively correlated with the mean scores of these behaviours in the other group members. Risk-taking and explorative
behaviours were correlated only when data was adjusted for the behaviour of the other group members. Individuals that spent
more time in the open than their companions also tended to be faster than the others to enter the passage to the unknown area
and vice versa. The results indicate that there are consistent individual differences in boldness in perch, but also that
behaviour could be modified according to the behaviour of group members. 相似文献
6.
Nuchal translucency (NT) measurement between 11 and 14 weeks' gestation is an undisputed marker for aneuploidies. When conventional karyotyping is normal, enlarged NT is a strong marker for adverse pregnancy outcome, associated with miscarriage, intrauterine death, congenital heart defects, and numerous other structural defects and genetic syndromes. The risk of adverse outcome is proportional to the degree of NT enlargement. Although the majority of structural anomalies are amenable to ultrasound detection, unspecified genetic syndromes involving developmental delay may only emerge after birth. Concern over these prenatally undetectable conditions is a heavy burden for parents. However, following detection of enlarged NT the majority of babies with normal detailed ultrasound examination and echocardiography will have an uneventful outcome with no increased risk for developmental delay when compared to the general population. Counseling should emphasize this to help parents restore hope in normal pregnancy outcome and infant development. Copyright © 2010 John Wiley & Sons, Ltd. 相似文献
7.
Anomalies of the thorax and abdomen can be found in a number of genetic syndromes. Whilst it may not be possible to make a definitive diagnosis before birth, knowledge of the potential associations can be useful for the prenatal diagnostician when examining the fetus and counselling the parents. In this article, we describe conditions where other features may be detectable using prenatal ultrasound. We describe the features, potential diagnostic aids and prognosis. The tables list other potential features that may be identified. The range of conditions that can occur emphasises the value of genetic input in the management of a fetus with an apparently normal karyotype and multiple anomalies, the need to save material for future molecular analysis and the requirement of a detailed examination after delivery. These are needed in order to make accurate diagnoses and advise parents with regard to recurrence risks and the potential for prenatal diagnosis in future pregnancies. Copyright © 2008 John Wiley & Sons, Ltd. 相似文献
8.
François Vialard Giuseppe Simoni Denise Molina Gomes Azzedine Abourra Simona De Toffol Fabrice Bru Maria Carmen Martinez Romero Lucio Nitsch Philippe Bouhanna Livia Marcato Thomas Popowski Beatrice Grimi Jose Antonio Martínez-Conejero B. Benzacken Rita Genesio Francesca R. Grati 《黑龙江环境通报》2012,32(4):329-335
9.
Catherine D. Kashork V. Reid Sutton Jill S. Fonda Allen Deborah E. Schmidt Marisa L. Likhite Lorraine Potocki William E. O'Brien Lisa G. Shaffer 《黑龙江环境通报》2002,22(11):1028-1032
It has been previously reported that a low or absent maternal serum unconjugated estriol (uE3) level is associated with placental steroid sulfatase (STS) deficiency. Here we report a correlation between patients who present with a very low or absent maternal serum uE3 and a deletion of the STS gene as assessed by fluorescence in situ hybridization (FISH). We studied nine prenatal cases that presented to the clinical laboratory with an abnormal triple screen, specifically low or absent maternal serum uE3 and a 46,XY karyotype. FISH analysis showed complete deletion of a probe containing the STS gene in six cases and one case had a partial deletion (reduced but not absent signal). The remaining two cases were not deleted for the STS probe. All mothers tested whose fetus showed a deletion were shown to be STS deletion carriers using FISH. Biochemical analysis was performed on 7/9 prenatal specimens. All fetuses deleted for the STS probe were also found to be deficient for STS by biochemical analysis of cultured amniotic fluid (5/5). Of the two fetuses not deleted for the STS probe, one was deficient for STS activity, while the other had a normal result. The abnormal result of enzyme deficiency by biochemical analysis in a non-deletion case likely represents a mutation in the STS gene, not detectable by this FISH assay. Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献