Prenatal diagnosis: what do we know of long-term outcomes?

Although prenatal diagnosis has been a prominent feature of Paediatric Urology for more than two decades the published literature has been largely characterized by studies reporting short to medium-term follow up. This deficiency is now being addressed by the growing availability of published and unpublished long-term outcome data for a range of prenatally detected anomalies. This review analyses the evidence on long-term outcomes which is provided by studies with mean or median follow- up exceeding 5 years, with particular emphasis on the small number of studies reporting follow -up at 10 years and beyond. The natural history and outcome of conservatively managed uropathies is considered in conjunction with an appraisal of evidence- based indications for surgical intervention. This review evaluates the relative benefits and drawbacks of prenatal diagnosis for children and their parents and also considers the impact of prenatal diagnosis on the delivery of Paediatric Urological services and specialist training.

Prenatally diagnosed urinary tract abnormalities: long-term outcome.

The long-term outcomes of prenatally detected uropathies are poorly documented. Limited data on fetal intervention show a possible reduction in early mortality from pulmonary hypoplasia, but no beneficial effect on long-term prognosis for renal function. Prenatally detected vesicoureteric reflux (VUR) is characterised by males with high-grade primary reflux, who are at long-term risk of renal impairment. Prenatal diagnosis and surgical intervention have contributed to a reduction in long-term morbidity in children with pelviureteric junction (PUJ) obstruction. By the same token, many children have almost certainly undergone unnecessary early pyeloplasty for an obstruction that would have resolved spontaneously. Multicystic dysplastic kidney (MCDK) carries a low (1%) risk of hypertension in childhood. The limited evidence on the long-term outcome of mild dilatation (pelvicaliectasis) indicates this is a largely innocent finding, which carries no increased risk of morbidity.

Bladder reconstruction--from cells to materials.

Surgical reconstruction of the urinary bladder is performed on patients of all ages for a diverse range of conditions, including congenital abnormalities, bladder dysfunction, trauma and cancer. The most common material utilized to augment or replace the bladder during these procedures is a segment of the patient's own intestine. However, this procedure ('enterocytoplasty') is associated with significant clinical complications that arise due to the exposure of the epithelial lining of the intestine to urine. A number of alternative approaches are being actively developed to find a practical and functional substitute for native bladder tissue. These range from 'composite enterocystoplasty', where the de-epithelialized intestine wall is lined with bladder epithelial cells that have been propagated in vitro, to augmenting the urinary system with natural or synthetic biomaterials that may incorporate in vitro-propagated cells. However, if tissue-engineered products are to have therapeutic application in bladder reconstruction, a number of issues remain to be addressed; these issues are discussed briefly below.

A family study and the natural history of prenatally detected unilateral multicystic dysplastic kidney.

PURPOSE: We document the inheritance pattern of multicystic dysplastic kidney in 3 affected families and screen first-degree relatives of a cohort of children with prenatally detected multicystic dysplastic kidney for renal anomalies. The study also afforded an opportunity to document the natural history of prenatally detected multicystic dysplastic kidney. MATERIALS AND METHODS: We identified 3 families during clinical treatment of children with prenatally detected multicystic dysplastic kidneys. Other members of these families were evaluated with renal ultrasonography. For the family screening study index cases were identified from a fetal uropathy database. A total of 94 first-degree relatives (52 parents, 35 full siblings and 7 half siblings) of 29 children with prenatally detected multicystic dysplastic kidneys were studied with urinary tract ultrasonography, blood pressure measurement, urinalysis and plasma biochemistry. RESULTS: Two families had affected sibling pairs, 1 of which also had a half sibling with vesicoureteral reflux. The third family included 3 individuals with multicystic dysplastic kidney and 1 with renal agenesis thought to have resulted from involution of multicystic dysplastic kidney. This family is consistent with autosomal dominant inheritance with variable expressivity and reduced penetrance. In the screening study ultrasonography did not demonstrate significant renal anomalies in any of the 94 first-degree relatives of the multicystic dysplastic kidney index cases. Followup assessment of prenatally detected multicystic dysplastic kidneys in index cases demonstrated total involution in 52% at a median age of 6.5 years with no multicystic dysplastic kidney related morbidity. CONCLUSIONS: Multicystic dysplastic kidney can be familial but is most commonly a sporadic anomaly. Formal screening of relatives is not recommended. Followup data on a cohort of children with prenatally detected multicystic dysplastic kidney add further support to conservative management.