The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Prenatal Diagnosis

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Prenatal Diagnosis


Psychiatry related information on Prenatal Diagnosis


High impact information on Prenatal Diagnosis


Chemical compound and disease context of Prenatal Diagnosis


Biological context of Prenatal Diagnosis


Anatomical context of Prenatal Diagnosis


Associations of Prenatal Diagnosis with chemical compounds


Gene context of Prenatal Diagnosis

  • We describe a novel homozygous null mutation of the PKLR gene found in a girl with a prenatal diagnosis of PK deficiency [31].
  • Since dominant OI can be due to mutations at either of two loci (COL1A1 and COL1A2) prenatal diagnosis becomes feasible in the majority of the affected families only if a very informative marker is available for both of these genes [32].
  • These results further support the implication of the MTM1 gene in XLMTM and allow efficient and reliable carrier and prenatal diagnosis in these families [33].
  • Altogether, with a PIC value of 0.64 for APOC2, 0.69 for CKMM, and 0.27 for D19S51 (BglI), presymptomatic and prenatal diagnosis can thus be offered to approximately 24% of persons with a risk between 0.0004 and 0.0008 using these flanking markers [34].
  • The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis [35].

Analytical, diagnostic and therapeutic context of Prenatal Diagnosis


  1. Prenatal diagnosis of Duchenne's muscular dystrophy. Mahoney, M.J., Haseltine, F.P., Hobbins, J.C., Banker, B.Q., Caskey, C.T., Golbus, M.S. N. Engl. J. Med. (1977) [Pubmed]
  2. Prenatal diagnosis of congenital toxoplasmosis with a polymerase-chain-reaction test on amniotic fluid. Hohlfeld, P., Daffos, F., Costa, J.M., Thulliez, P., Forestier, F., Vidaud, M. N. Engl. J. Med. (1994) [Pubmed]
  3. Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria. Woo, S.L., Lidsky, A.S., Güttler, F., Chandra, T., Robson, K.J. Nature (1983) [Pubmed]
  4. Enhanced dexamethasone resistance in cystic fibrosis cells: potential use for heterozygote detection and prenatal diagnosis. Breslow, J.L., Epstein, J., Fontaine, J.H., Forbes, G.B. Science (1978) [Pubmed]
  5. Prenatal diagnosis of neural-tube defects with a monoclonal antibody specific for acetylcholinesterase. Brock, D.J., Barron, L., van Heyningen, V. Lancet (1985) [Pubmed]
  6. Localization of the human dihydropteridine reductase gene to band p15.3 of chromosome 4 by in situ hybridization. Brown, R.M., Dahl, H.H. Genomics (1987) [Pubmed]
  7. Prenatal diagnosis of hereditary protein C deficiency. Mibashan, R.S., Millar, D.S., Rodeck, C.H., Nicolaides, K.H., Berger, A., Seligsohn, U. N. Engl. J. Med. (1985) [Pubmed]
  8. Prenatal diagnosis of alpha 1-antitrypsin deficiency by direct analysis of the mutation site in the gene. Kidd, V.J., Golbus, M.S., Wallace, R.B., Itakura, K., Woo, S.L. N. Engl. J. Med. (1984) [Pubmed]
  9. The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis. Moser, A.E., Singh, I., Brown, F.R., Solish, G.I., Kelley, R.I., Benke, P.J., Moser, H.W. N. Engl. J. Med. (1984) [Pubmed]
  10. Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. Kan, Y.W., Lee, K.Y., Furbetta, M., Angius, A., Cao, A. N. Engl. J. Med. (1980) [Pubmed]
  11. Sounding board: Antenatal diagnosis, alpha fetoprotein and the FDA. Milunsky, A., Alpert, E. N. Engl. J. Med. (1976) [Pubmed]
  12. Proteinuria and prenatal diagnosis of congenital nephrosis in fetal carriers of nephrin gene mutations. Patrakka, J., Martin, P., Salonen, R., Kestilä, M., Ruotsalainen, V., Männikkö, M., Ryynänen, M., Rapola, J., Holmberg, C., Tryggvason, K., Jalanko, H. Lancet (2002) [Pubmed]
  13. Primary hyperoxaluria type I: oxalate and glycolate unsuitable for prenatal diagnosis. Leumann, E., Matasović, A., Niederwieser, A. Lancet (1986) [Pubmed]
  14. Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis. Hughes, I.A., Dyas, J., Riad-Fahmy, D., Laurence, K.M. J. Med. Genet. (1987) [Pubmed]
  15. Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: existence of the glycine cleavage system in placenta. Hayasaka, K., Tada, K., Fueki, N., Takahashi, I., Igarashi, A., Takabayashi, T., Baumgartner, R. J. Pediatr. (1987) [Pubmed]
  16. Stable isotope dilution analysis of galactitol in amniotic fluid: an accurate approach to the prenatal diagnosis of galactosemia. Jakobs, C., Warner, T.G., Sweetman, L., Nyhan, W.L. Pediatr. Res. (1984) [Pubmed]
  17. Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. IJlst, L., Ruiter, J.P., Hoovers, J.M., Jakobs, M.E., Wanders, R.J. J. Clin. Invest. (1996) [Pubmed]
  18. Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI. Dembure, P.P., Priest, J.H., Snoddy, S.C., Elsas, L.J. Am. J. Hum. Genet. (1984) [Pubmed]
  19. Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met and pJ3.11. Farrall, M., Watson, E., Bates, G., Bell, G., Bell, J., Davies, K.A., Estivill, X., Kruyer, H., Law, H.Y., Lench, N. Am. J. Hum. Genet. (1986) [Pubmed]
  20. Deletion (X)(q26.1-->q28) in a proband and her mother: molecular characterization and phenotypic-karyotypic deductions. Tharapel, A.T., Anderson, K.P., Simpson, J.L., Martens, P.R., Wilroy, R.S., Llerena, J.C., Schwartz, C.E. Am. J. Hum. Genet. (1993) [Pubmed]
  21. Recombinations between IRP and cystic fibrosis. Farrall, M., Wainwright, B.J., Feldman, G.L., Beaudet, A., Sretenovic, Z., Halley, D., Simon, M., Dickerman, L., Devoto, M., Romeo, G. Am. J. Hum. Genet. (1988) [Pubmed]
  22. Prenatal diagnosis of ornithine transcarbamylase deficiency utilizing fetal liver biopsy. Holzgreve, W., Golbus, M.S. Am. J. Hum. Genet. (1984) [Pubmed]
  23. Differentiation in human amniotic fluid cell cultures: II: Secretion of an epithelial basement membrane glycoprotein. Megaw, J.M., Priest, J.H., Priest, R.E., Johnson, L.D. J. Med. Genet. (1977) [Pubmed]
  24. One liver, three recipients: segment IV from split-liver procedures as a source of hepatocytes for cell transplantation. Mitry, R.R., Dhawan, A., Hughes, R.D., Bansal, S., Lehec, S., Terry, C., Heaton, N.D., Karani, J.B., Mieli-Vergani, G., Rela, M. Transplantation (2004) [Pubmed]
  25. Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis. Zonana, J., Sarfarazi, M., Thomas, N.S., Clarke, A., Marymee, K., Harper, P.S. J. Pediatr. (1989) [Pubmed]
  26. Diagnosis of X-linked adrenal hypoplasia congenita by mutation analysis of the DAX1 gene. Guo, W., Mason, J.S., Stone, C.G., Morgan, S.A., Madu, S.I., Baldini, A., Lindsay, E.A., Biesecker, L.G., Copeland, K.C., Horlick, M.N. JAMA (1995) [Pubmed]
  27. Antenatal diagnosis of combined xanthine and sulphite oxidase deficiencies. Ogier, H., Wadman, S.K., Johnson, J.L., Saudubray, J.M., Duran, M., Boue, J., Munnich, A., Charpentier, C. Lancet (1983) [Pubmed]
  28. Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency. Rodeck, C.H., Patrick, A.D., Pembrey, M.E., Tzannatos, C., Whitfield, A.E. Lancet (1982) [Pubmed]
  29. Prenatal diagnosis of limb-reduction defects due to maternal cocaine use. van den Anker, J.N., Cohen-Overbeek, T.E., Wladimiroff, J.W., Sauer, P.J. Lancet (1991) [Pubmed]
  30. Prenatal diagnosis of pyruvate kinase deficiency. Baronciani, L., Beutler, E. Blood (1994) [Pubmed]
  31. Life-threatening nonspherocytic hemolytic anemia in a patient with a null mutation in the PKLR gene and no compensatory PKM gene expression. Diez, A., Gilsanz, F., Martinez, J., Pérez-Benavente, S., Meza, N.W., Bautista, J.M. Blood (2005) [Pubmed]
  32. A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta. Pepe, G. Hum. Mutat. (1993) [Pubmed]
  33. Confirmation of prenatal diagnosis results of X-linked recessive myotubular myopathy by mutational screening, and description of three new mutations in the MTM1 gene. Tanner, S.M., Laporte, J., Guiraud-Chaumeil, C., Liechti-Gallati, S. Hum. Mutat. (1998) [Pubmed]
  34. Prenatal diagnosis of myotonic dystrophy using closely linked flanking markers. Lavedan, C., Hofmann, H., Shelbourne, P., Duros, C., Savoy, D., Johnson, K., Junien, C. J. Med. Genet. (1991) [Pubmed]
  35. The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. Sprecher, E., Chavanas, S., DiGiovanna, J.J., Amin, S., Nielsen, K., Prendiville, J.S., Silverman, R., Esterly, N.B., Spraker, M.K., Guelig, E., de Luna, M.L., Williams, M.L., Buehler, B., Siegfried, E.C., Van Maldergem, L., Pfendner, E., Bale, S.J., Uitto, J., Hovnanian, A., Richard, G. J. Invest. Dermatol. (2001) [Pubmed]
  36. Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein. Wang, W., Meadows, L.R., den Haan, J.M., Sherman, N.E., Chen, Y., Blokland, E., Shabanowitz, J., Agulnik, A.I., Hendrickson, R.C., Bishop, C.E. Science (1995) [Pubmed]
  37. New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency. Nussbaum, R.L., Boggs, B.A., Beaudet, A.L., Doyle, S., Potter, J.L., O'Brien, W.E. Am. J. Hum. Genet. (1986) [Pubmed]
  38. de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings. Tajima, T., Fujieda, K., Fujii-Kuriyama, Y. J. Clin. Endocrinol. Metab. (1993) [Pubmed]
  39. Immunocytochemical characterization of amniotic fluid macrophages in cases of fetal neural tube defects. Polgar, K., Abel, G., Laczko, J., Sipka, S., Papp, Z. Am. J. Clin. Pathol. (1987) [Pubmed]
  40. Improved prenatal diagnosis of congenital human cytomegalovirus infection by a modified nested polymerase chain reaction. Revello, M.G., Sarasini, A., Zavattoni, M., Baldanti, F., Gerna, G. J. Med. Virol. (1998) [Pubmed]
WikiGenes - Universities