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Resources for the Clinician
References
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Rapid prenatal diagnosis of trisomy 21 in 5,049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH) |
This was a retrospective study on the results of interphase fluorescence in situ hybridization (FISH), performed routinely for chromosome 21 and on ultrasonographic indications for chromosomes 13, 18, X and Y in a series of 5,049 amniotic fluid samples. |
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| Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature | Data is presented from the clinical trial that led to regulatory clearance for AneuVysion (1379 pregnancies) and from retrospective case review on 5197 new pregnancies. | Full PDF |
| Rapid Prenatal Diagnosis of Aneuploidies in Uncultured Amniocytes by Fluroescence in situ Hybridization | A new method in prenatal diagnostics allows the identification of certain numeric chromosomal aneuploidies in amniotic cells within 24 hours in contrast to conventional methods which take 1-3 weeks. | Full PDF |
| Rapid Prenatal Diagnostics in the Interphase Nucleus : Procedure and Cut-off Rates | Results of a rapid prenatal aneuploidy screening in uncultured amniocytes using FISH are available within 24 hr. Here we present our cut-off rates for and the way in which we handle the AneuVysion kit (ABBOTT/Vysis), based on the experience of 1200 studied cases. In summary, the method is reliable, and the risk for misdiagnosis is low (_0.4%). | Full PDF |
| Automated Microscopy of Amniotic Fluid Cells: Detection of FISH Signals Using the FastFISH® Imaging System | FISH (fluorescence in situ hybridization) analysis is a valuable adjunct to cytogenetics that provides a rapid screen for common abnormalities. A fully automated system for FISH analysis could improve laboratory efficiency and potentially reduce errors and costs. | Free PDF unavailable. Available for purchase. |
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Genetic Counseling
Below we've listed a few links to help you find more information on Genetic Counseling.
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The National Society for Genetic CounselorsNSGC's vision is "to be the leading voice, authority and advocate for the genetic counseling profession" and their mission is "to promote the genetic counseling profession as a recognized and integral part of health care delivery, education, research and public policy." |
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March of DimesThe leading nonprofit organization for pregnancy and baby health. "We're dedicated to improving the health of babies by preventing birth defects, premature birth and infant mortality." |
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The Center for Disease Control and PreventionCDC's Mission is "to promote health and quality of life by preventing and controlling disease, injury, and disability." Please click here for specific links and information on birth defects and genetic conditions. |
