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Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families

Prenatal Diagnosis of Congenital Nephrosis in 23 High-Risk Families Abstract • The efficacy of maternal serum and amniotic fluid alpha-fetoprotein (AFP) estimation for the prenatal detection of congenital nephrosis was assessed in 23 pregnancies of couples with a previously affected child. At 15 to 18 weeks' gestation, amniotic fluid AFP concentration was elevated in seven of 23 cases, and maternal serum AFP level in five of these. Legal abortion was carried out at 18 to 19 weeks in all those cases where the amniotic fluid AFP concentration was abnormally high, and in all cases the fetus was found to be affected. The diagnosis of intrauterine congenital nephrosis was obvious by electron microscopic examination of the fetal kidney, but not by light microscopy. The child was born without congenital nephrosis in all 16 cases where amniotic fluid AFP level was normal, and in 16 of 18 cases (89%) where maternal serum AFP concentration was normal. Thus, the amniotic fluid AFP assay is more reliable and is recommended whenever congenital nephrosis is suspected on the basis of family history. (Am J Dis Child 132:984-987, 1978) References 1. Hallman N, Norio R, Kouvalainen K, et al: Das kongenital nephrotische Syndrom . Ergeb Inn Med Kinderheilk 30:3-67, 1970. 2. Seppälä M, Tallberg T, Ehnholm C: Studies on embryospecific proteins: Physiological characteristics of embryo-specific alpha-globulin . Ann Med Exp Fenn 45:16-19, 1967. 3. Kjessler B, Johansson SGO, Sherman MS, et al: Alpha-fetoprotein in antenatal diagnosis of congenital nephrosis . Lancet 1:432-433, 1975.Crossref 4. Kjessler B, Hultqvist G, Johansson SGO, et al: Antenatal diagnosis of congenital nephrosis of the Finnish type . Acta Obstet Gynecol Scand , suppl 69, 1977, pp 59-77.Crossref 5. Seppälä M, Rapola J, Huttunen N-P, et al: Congenital nephrotic syndrome: Prenatal diagnosis and genetic counselling by estimation of amniotic fluid and maternal serum alpha-fetoprotein . Lancet 2:123-125, 1976.Crossref 6. Wiggelinkhuizen J, Nelson MM, Berger GMB, et al: Alpha fetoprotein in the antenatal diagnosis of the congenital nephrotic syndrome . J Pediatr 89:452-455, 1976.Crossref 7. Thom H, Johnstone FD, Gibson JT, et al: Fetal proteinuria in diagnosis of congenital nephrosis detected by alpha-fetoprotein in maternal serum . Br Med J 1:16-18, 1977.Crossref 8. Milunsky A, Alpert E, Frigoletto FD, et al: Prenatal diagnosis of the congenital nephrotic syndrome . Pediatrics 59:770-773, 1977. 9. Huttunen N-P: Congenital nephrotic syndrome of Finnish type: Study of 75 patients . Arch Dis Child 51:344-348, 1976.Crossref 10. Hallman N, Norio R, Rapola J: Congenital nephrotic syndrome . Nephron 11:101-110, 1973.Crossref 11. Ruoslahti E, Seppälä M: Radioimmunoassay of alpha fetoprotein , in Abraham GE (ed): Handbook of Radioimmunoassay . New York, Marcel Dekker Inc, 1970, pp 534-570. 12. Seppälä M: The immunological detection of alpha fetoprotein as a marker of fetal pathology . Clin Obstet Gynecol 20:737-757, 1977.Crossref 13. United Kingdom Collaborative Study Group: Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy . Lancet 1:1323-1332, 1977. 14. Brock DJH, Barron L, Jelen P, et al: Maternal serum-alpha-fetoprotein measurements as an early indicator of low birth weight . Lancet 2:267, 1977.Crossref 15. Wald N, Cuckle H, Stirrat GM, et al: Maternal serum-alpha-fetoprotein and low birth weight . Lancet 2:268, 1977.Crossref 16. Kjessler B, Johansson SGO, Lidbjörk G, et al: Alpha-fetoprotein (AFP) levels in maternal serum in relation to pregnancy outcome in 7,158 pregnant women prospectively investigated during their 14th-20th week past last menstrual period . Acta Obstet Gynecol Scand , (suppl) 69, 1977, pp 25-44.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120350048008
Publisher site
See Article on Publisher Site

Abstract

Abstract • The efficacy of maternal serum and amniotic fluid alpha-fetoprotein (AFP) estimation for the prenatal detection of congenital nephrosis was assessed in 23 pregnancies of couples with a previously affected child. At 15 to 18 weeks' gestation, amniotic fluid AFP concentration was elevated in seven of 23 cases, and maternal serum AFP level in five of these. Legal abortion was carried out at 18 to 19 weeks in all those cases where the amniotic fluid AFP concentration was abnormally high, and in all cases the fetus was found to be affected. The diagnosis of intrauterine congenital nephrosis was obvious by electron microscopic examination of the fetal kidney, but not by light microscopy. The child was born without congenital nephrosis in all 16 cases where amniotic fluid AFP level was normal, and in 16 of 18 cases (89%) where maternal serum AFP concentration was normal. Thus, the amniotic fluid AFP assay is more reliable and is recommended whenever congenital nephrosis is suspected on the basis of family history. (Am J Dis Child 132:984-987, 1978) References 1. Hallman N, Norio R, Kouvalainen K, et al: Das kongenital nephrotische Syndrom . Ergeb Inn Med Kinderheilk 30:3-67, 1970. 2. Seppälä M, Tallberg T, Ehnholm C: Studies on embryospecific proteins: Physiological characteristics of embryo-specific alpha-globulin . Ann Med Exp Fenn 45:16-19, 1967. 3. Kjessler B, Johansson SGO, Sherman MS, et al: Alpha-fetoprotein in antenatal diagnosis of congenital nephrosis . Lancet 1:432-433, 1975.Crossref 4. Kjessler B, Hultqvist G, Johansson SGO, et al: Antenatal diagnosis of congenital nephrosis of the Finnish type . Acta Obstet Gynecol Scand , suppl 69, 1977, pp 59-77.Crossref 5. Seppälä M, Rapola J, Huttunen N-P, et al: Congenital nephrotic syndrome: Prenatal diagnosis and genetic counselling by estimation of amniotic fluid and maternal serum alpha-fetoprotein . Lancet 2:123-125, 1976.Crossref 6. Wiggelinkhuizen J, Nelson MM, Berger GMB, et al: Alpha fetoprotein in the antenatal diagnosis of the congenital nephrotic syndrome . J Pediatr 89:452-455, 1976.Crossref 7. Thom H, Johnstone FD, Gibson JT, et al: Fetal proteinuria in diagnosis of congenital nephrosis detected by alpha-fetoprotein in maternal serum . Br Med J 1:16-18, 1977.Crossref 8. Milunsky A, Alpert E, Frigoletto FD, et al: Prenatal diagnosis of the congenital nephrotic syndrome . Pediatrics 59:770-773, 1977. 9. Huttunen N-P: Congenital nephrotic syndrome of Finnish type: Study of 75 patients . Arch Dis Child 51:344-348, 1976.Crossref 10. Hallman N, Norio R, Rapola J: Congenital nephrotic syndrome . Nephron 11:101-110, 1973.Crossref 11. Ruoslahti E, Seppälä M: Radioimmunoassay of alpha fetoprotein , in Abraham GE (ed): Handbook of Radioimmunoassay . New York, Marcel Dekker Inc, 1970, pp 534-570. 12. Seppälä M: The immunological detection of alpha fetoprotein as a marker of fetal pathology . Clin Obstet Gynecol 20:737-757, 1977.Crossref 13. United Kingdom Collaborative Study Group: Maternal serum alpha-fetoprotein measurement in antenatal screening for anencephaly and spina bifida in early pregnancy . Lancet 1:1323-1332, 1977. 14. Brock DJH, Barron L, Jelen P, et al: Maternal serum-alpha-fetoprotein measurements as an early indicator of low birth weight . Lancet 2:267, 1977.Crossref 15. Wald N, Cuckle H, Stirrat GM, et al: Maternal serum-alpha-fetoprotein and low birth weight . Lancet 2:268, 1977.Crossref 16. Kjessler B, Johansson SGO, Lidbjörk G, et al: Alpha-fetoprotein (AFP) levels in maternal serum in relation to pregnancy outcome in 7,158 pregnant women prospectively investigated during their 14th-20th week past last menstrual period . Acta Obstet Gynecol Scand , (suppl) 69, 1977, pp 25-44.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Oct 1, 1978

References