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According to the classification of Osathanondh and Potter of cystic kidneys we give an overview of the different types of cystic changes taking genetic aspects into account. Usually pathoanatomic types do not represent genetic entities: All type I kidneys are transmitted in an autosomal recessive way with varying clinical symptoms; in rare cases they even present in adults. The relationship to "congenital hepatic fibrosis", "cystic liver", and to the "Caroli syndrome" is discussed. Type II kidneys are usually not genetic in origin; but they may occur as part of several syndromes. Rarely genetic factors might contribute to type II kidneys that may present as familial cases of Potter syndrome ("renal non-function syndrome"). Type IV kidneys, although different in their pathoanatomic picture can be regarded according to a common pathogenetic theory as part of the spectrum of malformations as in type II. Therefore the genetic interpretation of type II kidneys also applies to type IV lesions. Type III kidneys include autosomal dominant polycystic kidney disease. This type may already present in childhood; the first prenatal diagnosis by ultrasonography is described in detail. Furthermore type III changes are part of syndromes or non-hereditary malformation complexes, and often present only as mild manifestations. Diseases with isolated involvement of the medulla (juvenile nephronophthisis/medullary cystic disease) or cortex are described as part of the differential diagnosis, they are heterogeneous and genetically only partly understood. Syndromes with cystic kidneys are reviewed as well as the possibilities of prenatal diagnosis of cystic diseases. Reliable prenatal diagnosis is only possible in type II, and possible in some of the other types. The nosology is improved if genetic information is taken into account.

Combined pulmonary and aortic valvar stenosis is an extremely rare congenital anomaly. Fetuses and neonates with critical pulmonary valve stenosis or atresia and intact ventricular septum may present with varying degrees of abnormalities of the right ventricle, tricuspid valve, and coronary arteries, but combination of right and left ventricular outflow tract obstruction is hardly ever seen. Until bilateral balloon valvuloplasty had been established in the neonate, the only therapeutic option was the surgical relief of right and left ventricular obstruction. We highlight the essentials of perinatal management in cases with severe bilateral valvar obstruction and provide a guideline for sequential interventional therapy of this rare lesion.

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