Premium
Prolidase deficiency among an Israeli population: prenatal diagnosis in a genetic disorder with uncertain prognosis
Author(s) -
Mandel H.,
Abeling N.,
Gutman A.,
Berant M.,
Scholten E. G.,
Sheiman C.,
Luder A.,
van Gennip A. H.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200011)20:11<927::aid-pd943>3.0.co;2-h
Subject(s) - asymptomatic , prenatal diagnosis , medicine , pediatrics , genetic disorder , pregnancy , genetic counseling , population , presentation (obstetrics) , fetus , obstetrics , genetics , disease , biology , environmental health
Prolidase deficiency is an autosomal recessive disorder that is characterized by considerable inter‐ and intrafamilial variability in its clinical presentation, ranging from asymptomatic to severe and fatal illness. We report here, for the first time, prenatal diagnosis of prolidase deficiency in a family whose first child was severely affected since birth and died at an early age. However, unexpectedly, the parents decided to continue the second pregnancy, which produced a full‐term, healthy‐appearing baby. The diagnosis of severe prolidase deficiency was confirmed in the baby's leukocytes. At age 4 months the baby is asymptomatic. Since the clinical severity of the disorder cannot be predicted, genetic counselling remains problematic despite the feasibility of prenatal diagnosis. Copyright © 2000 John Wiley & Sons, Ltd.