Amniotic fluid microvillar enzyme activity in fetal malformations

M. Szabo, L. Veress, F. Teichmann, A. Munnich, M. Huszka, Z. Papp

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

Prenatal diagnosis of cystic fibrosis based on amniotic fluid microvillar enzyme activity assay has become routine practice in the past few years. Normal (median) values of these enzymes were determined in 177 normal healthy pregnancies between 15-20 gestational weeks and were related to enzyme values measured in 50 pregnancies complicated with congenital malformations, 6 monogenic inherited diseases and 4 chromosomal aberrations. It is concluded that increased trehalase activity has diagnostic importance in detecting fetal kidney diseases, and radial-renal syndrome (with elevated GGT activity), while low enzyme activities may indicate chromosomal aberrations (with no signs of interstinal obstruction). With the collection of further data, the analysis of these enzymes might provide an opportunity to set up diagnostic procedures for the detection of other, non-CF-related cases.

Original languageEnglish
Pages (from-to)340-345
Number of pages6
JournalClinical Genetics
Volume38
Issue number5
Publication statusPublished - 1990

Fingerprint

Fetal Movement
Amniotic Fluid
Enzymes
Chromosome Aberrations
Trehalase
Fetal Diseases
Pregnancy
Kidney Diseases
Enzyme Assays
Prenatal Diagnosis
Cystic Fibrosis
Reference Values
Kidney

Keywords

  • Amniotic fluid
  • Chromosome aberration
  • Fetal malformation
  • Microvillar enzymes
  • Prenatal diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Szabo, M., Veress, L., Teichmann, F., Munnich, A., Huszka, M., & Papp, Z. (1990). Amniotic fluid microvillar enzyme activity in fetal malformations. Clinical Genetics, 38(5), 340-345.

Amniotic fluid microvillar enzyme activity in fetal malformations. / Szabo, M.; Veress, L.; Teichmann, F.; Munnich, A.; Huszka, M.; Papp, Z.

In: Clinical Genetics, Vol. 38, No. 5, 1990, p. 340-345.

Research output: Contribution to journalArticle

Szabo, M, Veress, L, Teichmann, F, Munnich, A, Huszka, M & Papp, Z 1990, 'Amniotic fluid microvillar enzyme activity in fetal malformations', Clinical Genetics, vol. 38, no. 5, pp. 340-345.
Szabo M, Veress L, Teichmann F, Munnich A, Huszka M, Papp Z. Amniotic fluid microvillar enzyme activity in fetal malformations. Clinical Genetics. 1990;38(5):340-345.
Szabo, M. ; Veress, L. ; Teichmann, F. ; Munnich, A. ; Huszka, M. ; Papp, Z. / Amniotic fluid microvillar enzyme activity in fetal malformations. In: Clinical Genetics. 1990 ; Vol. 38, No. 5. pp. 340-345.
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