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Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases
Author(s) -
Schmidt W.,
Schroeder T. M.,
Buchinger G.,
Kubli F.
Publication year - 1982
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1982.tb01422.x
Subject(s) - oligohydramnios , prenatal diagnosis , genitourinary system , medicine , genetic counseling , kidney , pregnancy , medical genetics , prenatal ultrasound , fetus , obstetrics , pediatrics , pathology , biology , genetics , gene
We report on 12 early prenatal diagnoses of “Potter syndrome” and other severe fetal kidney diseases by ultrasonic observations of persistent oligohydramnios and absence of kidney function; seven pregnancies were terminated. These cases are discussed together with others observed in a total of 23 families. Special attention is given to the difficulty of classifying the various kidney diseases pathoanatomically, and also of determining the recurrence risk in the affected families. For genetic counselling, the possibility of early prenatal diagnosis is a practical solution to this problem. Routine ultrasound supervision of pregnancies can already detect a first, sporadic case of the various kidney diseases.