FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2059096474> ?p ?o ?g. }

• W2059096474 abstract "The prenatal diagnosis or exclusion of aneuploidy and single gene disorders has necessitated invasive testing by chorionic villus sampling or amniocentesis. The current use of ultrasound and biochemical markers provides screening but not diagnostic testing for these conditions. The risk of procedure related miscarriage is well recognized, along with the physical discomfort and the mental anguish many couples experience when deciding whether to accept the offer of invasive testing. For these reasons, the ‘holy grail’ of prenatal diagnosis has been to find non-invasive techniques which avoid these risks and discomfort. During the 1990s considerable effort was expended on the isolation of the small number of fetal cells reaching the maternal systemic circulation during pregnancy. This proved to be quite a challenge; fetal erythroblasts and trophoblasts could indeed be found after very significant enrichment and complex sorting protocols, but isolating a pure source was very challenging and anyway concerns existed that some of these fetal cells might have persisted from a previous pregnancy. One of the constituents of maternal plasma is cell free DNA (cfDNA), derived mostly from maternal white blood cells. In 1997, Lo proved that in pregnant women, some of the cfDNA in maternal blood was derived from the feto-placental unit and named this cell free fetal DNA (cffDNA). Y-chromosomal DNA could be reliably identified in the blood of pregnant women carrying a male fetus from as early as the first trimester, using targeted PCR reactions. Women carrying a female fetus should have no Y-chromosomal DNA circulating in their blood, and these Y-specific PCR reactions would in this case fail to produce a product. His work also showed that this cffDNA is cleared from the circulation within a couple of hours of the birth of the baby. Trophoblasts are the mostly likely source of this DNA, and it is also clear now that fetally derived cell free mRNA is also present in maternal plasma. cffDNA accounts for between 3 and 6% of all cfDNA in maternal blood and with very sensitive PCR reactions can be detected as early as 4 weeks’ gestation. Since 1997 significant advances in molecular biology have brought non-invasive prenatal diagnosis (NIPD) to a point where it is now in common use in a small number of defined prenatal situations. However, the next 5e10 years will see it being utilized ever more widely, and probably even in the prenatal testing for common aneuploidies. The first non-invasive techniques using cffDNA relied on the identification of genes or alleles that are not present in the mother but are present in the baby, either because they have been" @default.
• W2059096474 created "2016-06-24" @default.
• W2059096474 creator A5089458947 @default.
• W2059096474 date "2011-08-01" @default.
• W2059096474 modified "2023-09-25" @default.
• W2059096474 title "Non-invasive prenatal diagnosis: progress so far" @default.
• W2059096474 cites W1837124919 @default.
• W2059096474 cites W1968486595 @default.
• W2059096474 cites W2062464354 @default.
• W2059096474 cites W2100977485 @default.
• W2059096474 cites W2132238722 @default.
• W2059096474 doi "https://doi.org/10.1016/j.ogrm.2011.05.001" @default.
• W2059096474 hasPublicationYear "2011" @default.
• W2059096474 type Work @default.
• W2059096474 sameAs 2059096474 @default.
• W2059096474 citedByCount "2" @default.
• W2059096474 countsByYear W20590964742012 @default.
• W2059096474 countsByYear W20590964742013 @default.
• W2059096474 crossrefType "journal-article" @default.
• W2059096474 hasAuthorship W2059096474A5089458947 @default.
• W2059096474 hasConcept C104317684 @default.
• W2059096474 hasConcept C126322002 @default.
• W2059096474 hasConcept C131872663 @default.
• W2059096474 hasConcept C152110520 @default.
• W2059096474 hasConcept C172680121 @default.
• W2059096474 hasConcept C2776555163 @default.
• W2059096474 hasConcept C2777966818 @default.
• W2059096474 hasConcept C2778258057 @default.
• W2059096474 hasConcept C2779234561 @default.
• W2059096474 hasConcept C2779245376 @default.
• W2059096474 hasConcept C2779672484 @default.
• W2059096474 hasConcept C2988731192 @default.
• W2059096474 hasConcept C30481170 @default.
• W2059096474 hasConcept C54355233 @default.
• W2059096474 hasConcept C71924100 @default.
• W2059096474 hasConcept C86803240 @default.
• W2059096474 hasConceptScore W2059096474C104317684 @default.
• W2059096474 hasConceptScore W2059096474C126322002 @default.
• W2059096474 hasConceptScore W2059096474C131872663 @default.
• W2059096474 hasConceptScore W2059096474C152110520 @default.
• W2059096474 hasConceptScore W2059096474C172680121 @default.
• W2059096474 hasConceptScore W2059096474C2776555163 @default.
• W2059096474 hasConceptScore W2059096474C2777966818 @default.
• W2059096474 hasConceptScore W2059096474C2778258057 @default.
• W2059096474 hasConceptScore W2059096474C2779234561 @default.
• W2059096474 hasConceptScore W2059096474C2779245376 @default.
• W2059096474 hasConceptScore W2059096474C2779672484 @default.
• W2059096474 hasConceptScore W2059096474C2988731192 @default.
• W2059096474 hasConceptScore W2059096474C30481170 @default.
• W2059096474 hasConceptScore W2059096474C54355233 @default.
• W2059096474 hasConceptScore W2059096474C71924100 @default.
• W2059096474 hasConceptScore W2059096474C86803240 @default.
• W2059096474 hasLocation W20590964741 @default.
• W2059096474 hasOpenAccess W2059096474 @default.
• W2059096474 hasPrimaryLocation W20590964741 @default.
• W2059096474 hasRelatedWork W1892194592 @default.
• W2059096474 hasRelatedWork W1992362006 @default.
• W2059096474 hasRelatedWork W2008368984 @default.
• W2059096474 hasRelatedWork W2015645486 @default.
• W2059096474 hasRelatedWork W2035509461 @default.
• W2059096474 hasRelatedWork W2078004794 @default.
• W2059096474 hasRelatedWork W2085755738 @default.
• W2059096474 hasRelatedWork W2092782959 @default.
• W2059096474 hasRelatedWork W2137895072 @default.
• W2059096474 hasRelatedWork W2409998831 @default.
• W2059096474 hasRelatedWork W2411898409 @default.
• W2059096474 hasRelatedWork W2411971768 @default.
• W2059096474 hasRelatedWork W2412205960 @default.
• W2059096474 hasRelatedWork W2516112283 @default.
• W2059096474 hasRelatedWork W2780469965 @default.
• W2059096474 hasRelatedWork W3032223895 @default.
• W2059096474 hasRelatedWork W3139356533 @default.
• W2059096474 hasRelatedWork W3209591939 @default.
• W2059096474 hasRelatedWork W36222555 @default.
• W2059096474 hasRelatedWork W2559513822 @default.
• W2059096474 isParatext "false" @default.
• W2059096474 isRetracted "false" @default.
• W2059096474 magId "2059096474" @default.
• W2059096474 workType "article" @default.