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Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include renal agenesis, kidney hypo-/dysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. While most CAKUT cases are sporadic, familial clustering of CAKUT is common, emphasizing a strong genetic contribution to CAKUT origin. Animal experiments demonstrate that alterations in genes crucial for kidney development can cause experimental CAKUT, while expression studies implicate mislocalization and/or aberrant levels of the encoded proteins in human CAKUT. Further insight into the pathogenesis of CAKUT will improve strategies for early diagnosis, follow-up and treatment. Here, we outline a collaborative approach to identify and characterize novel factors underlying human CAKUT. This European consortium will share the largest collection of CAKUT patients available worldwide and undertake multidisciplinary research into molecular and genetic pathogenesis, with extension into translational studies to improve long-term patient outcomes.

We report the first case of foetal pericardial teratoma, treated successfully in utero by pericardio-amniotic shunting, and review the relevant literature. Foetal treatment improves survival in case of hydrops. Foetal pericardio-amniotic shunting could possibly be an alternative to serial pericardiocentesis.

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Background: Although intracytoplasmic sperm injection (ICSI) is now accepted as the treatment of choice for severe male infertility, concerns about its safety and the potential risks for the offspring remain. We reviewed the literature with respect to the prevalence of major congenital malformations after the ICSI technique and supplemented these data with the results of a prospective follow-up study performed in our center. Methods: From January 1994 till June 2000, 776 ICSI cycles were carried out at the Leuven University Fertility Center. The resulting pregnancies (n = 172) were followed for biochemical and obstetrical parameters, prenatal diagnosis and congenital abnormalities. Results: A total of 134/172 (78%) ongoing pregnancies resulted in 132 deliveries of 166 live born children. Two terminations of pregnancy were carried out due to the presence of major congenital anomalies, diagnosed at prenatal ultrasound. Prenatal diagnosis was carried out in 55 fetuses. Two de novo chromosomal aberrations were found. Major congenital abnormalities were observed at birth in 9/150 (6.0%) children. The total malformation rate was 6.5%. Conclusions: The prevalence of congenital abnormalities in children born after ICSI in our center (6.5%) was comparable to the prevalence of congenital abnormalities after ICSI reported in the literature.