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Original Article

Prenatal Diagnosis of Single Gene Disorders in Northern Finland

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Pages 123-129 | Received 09 Nov 1989, Published online: 08 Jul 2009

References

  • McKusick V A. Mendelian Inheritance in Man. Catalogs of autosomal dominant, autosomal recessive, and X‐linked phenotypes8th ed. The Johns Hopkins University Press, Baltimore 1988; 1–1626
  • Hartikainen Sorri A L, Kirkinen P, Herva R. Prenatal detection of hydrolethalus syndrome. Prenat Diagn 1983; 3: 219–24
  • Kirkinen P, Herva R, Leisti J. Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. Prenat Diagn 1987; 7: 189–96
  • Kirkinen P, Jouppila P. Prenatal ultrasonic findings in congenital chloride diarrhoea. Prenat Diagn 1984; 4: 457–61
  • Aula P, Rapola J, von Koskull H, Ämmälä P. Prenatal diagnosis and fetal pathology of aspartylglucosaminuria. Am J Med Genet 1984; 19: 359–67
  • Genetic Disorders and the Fetus. Diagnosis, prevention and treatment2nd ed., A Milunsky. Plenun Press, New York 1986; 1–895
  • Weaver D D. A survey of prenatally diagnosed disorders. Clin Obstet Gynecol 1988; 31: 253–69
  • Norio R. Diseases of Finland and Scandinavia. Biocultural aspects of disease, H Rotschild. Academic Press, New York 1981
  • Campbell S, Pearce J M. Ultrasound visualization of congenital malformations. Br Med Bull 1983; 39: 322–31
  • Karjalainen O, Aula P, Seppälä M. Prenatal diagnosis of the Meckel syndrome. Obstet Gynecol 1981; 57: 13–5
  • Pachi A, Giancotti A, Torcia F, De Prosperi V, Maggi E. Meckel‐Gruber syndrome: ultrasonographic diagnosis at 13 weeks' gestational age in an at‐risk case. Prenat Diagn 1989; 9: 187–90
  • Hartikainen Sorri A ‐L, Kirkinen P, Herva R. Prenatal detection of hydrolethalus syndrome. Prenat Diagn 1983; 3: 219–24
  • Kirkinen P, Herva R, Leisti J. Early prenatal diagnosis of a lethal syndrome of multiple congenital contractures. Prenat Diagn 1987; 7: 189–96
  • Luthy D A, Hirsch J H. Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis. Am J Med Genet 1985; 20: 505–17
  • Zerres K, Hansmann M, Mailman R, Gembruch U. Autosomal recessive polycystic kidney disease. Problems in prenatal diagnosis. Prenat Diagn 1988; 8: 215–29
  • Seppälä M, Rapola J, Huttunen N ‐P, Aula P, Karjalainen O, Ruoslahti E. Congenital nephrotic syndrome: prenatal diagnosis and genetic counselling by estimation of amniotic‐fluid and maternal serum alpha‐fetoprotein. Lancet 1976; ii: 123–4
  • Aula P, Karjalainen O, Rapola J, Lindgren J, Hartikainen A L, Seppälä M. Prenatal diagnosis of congenital nephrosis in 23 high‐risk families. Am J Dis Child 1978; 132: 984–7
  • Ryynänen M, Seppälä M, Kuusela P, Rapola J, Aula P, Seppä A, Jokela V, Castrén O. Antenatal screening for congenital nephrosis in Finland by maternal serum α‐fetoprotein. Br J Obstet Gynaecol 1983; 90: 437–42
  • von Wendt L, Similä S, Ruokonen A, HartikainenSorri A L. Problems of prenatal diagnosis of non‐ketotic hyperglycinemia. J Inherited Metab Dis 1983; 6: 112–3
  • Applegarth D A, Levy H L, Shih V E, McGillivray B, Wong J T, Toone J R, Kirby L T. Prenatal diagnosis of non‐ketotic hyperglycinemia. Prenat Diagn 1986; 6: 257–63
  • Garcia‐Munoz M J, Belloque J, Merinero B, Pérez‐Cerd C, Sanz P, Ugarte M. Non‐ketotic hyperglycinaemia: glycine/serine ratio in amniotic fluid—an unreliable method for prenatal diagnosis. Prenat Diagn 1989; 9: 473–6
  • Hayasaka K, Tada K, Fueki N, Takahashi I, Igarashi A, Takabayashi T, Baumgartner R. Feasibility of prenatal diagnosis of nonketotic hyperglycinemia: Existence of the glycine cleavage system in placenta. J Pediatr 1987; 110: 124–6
  • Poenaru L. First trimester prenatal diagnosis of metabolic disease. A survey in countries from the European Community. Prenat Diagn 1987; 7: 333–41
  • Sachs E S, Jahoda W IGJ, Kleijer W J, Pijpers L, Gaijaard H. Impact of first‐trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1000 cases. Am J Med Genet 1988; 29: 293–303
  • Mandon G, Mathieu M. 15 years of prenatal diagnosis of inherited metabolic diseases: the Lyon experience. J Inherited Metab Dis 1989; 12(suppl 2)257–9
  • Tada K, Aikawa J, Igarashi Y, Hayasaka K, Narisawa K, Owada M, Kitagawa T. A survey on prenatal diagnosis of inherited metabolic diseases in Japan. J Inherited Metab Dis 1989; 12(suppl 2)260–2
  • von Koskull H, Aula P, Ämmälä P, Nordström A M, Rapola J. Improved technique for the expression of fragile‐X in cultured amniotic fluid cells. Hum Genet 1985; 69: 218–23
  • Sutherland G R, Baker E, Purvis‐Smith S, Hockey A, Krumins E, Eichenbaum S Z. Prenatal diagnosis of the fragile X using thymidine induction. Prenat Diagn 1987; 7: 197–202
  • McKinley M J, Kearney L U, Nicolaides K H, Gosden C M, Webb T P, Fryns J P. Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture. Am J Med Genet 1988; 30: 255–68

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