Most of the urinary tract anomalies are obstructive uropathies. Omphalocele and gastroschisis represent the most frequent congenital abdominal wall defects. The increased use of prenatal sonography has led to earlier and more frequent diagnosis of a wide range of gastrointestinal anomalies. This chapter focuses especially on fetal cardiography in the third trimester and the role of four-chamber view scanning, diagnosis and management of hypoplastic left heart, the relatively new field of assessment of cardiac function, and conditions amenable to fetal therapy. Many potentially serious clinical disorders of the newborn manifest during gestation, including neurologic, cardiac, skeletal, gastrointestinal, pulmonary, and other systemic conditions. We propose that duplications, rare or de novo, contribute to PUV formation, a male-limited phenotype. Three coding genes (FBLIM1, SLC16A12, SNCAIP) and the microRNA MIR107 have previously been shown to be expressed in the developing urinary tract of mouse embryos. All three duplications comprised 11 coding genes: four human specific lncRNA and one microRNA. Parental DNA was not available for segregation analysis. One microduplication (5q23.2) occurred de novo in the two remaining microduplications found on chromosome 1p36.21 and 10q23.31. After, prioritization qPCR analysis confirmed 3 microduplications, all detected in PUV patients. Additional filtering implicated CNV frequency in the database of genomic variants, gene content and final visual inspection detecting 37 ultra-rare CNVs. Overlapping CNVs between patients and controls were discarded. Raw intensity data were collected for CNVs detected in LUTO patients and 4.392 healthy controls using CNVPartition, QuantiSNP and PennCNV. Here, we surveyed the genome of 155 LUTO patients to identify disease-causing CNVs. The most common form are posterior urethral valves (PUVs), a male-limited phenotype. Lower urinary tract obstruction (LUTO) is, in most cases, caused by anatomical blockage of the bladder outlet. A general treatment algorithm for foetal therapy is not available at the moment. In the meantime selection of foetuses for prenatal intervention puts high requirements on interdisciplinary counselling in every case. The data from the PLUTO trial (percutaneous shunting in lower urinary tract obstruction) conducted by the University of Birmingham may help to answer these questions. Further studies are necessary to improve case selection of affected foetuses and to evaluate the impact of interventions in earlier gestational weeks. Because of a relevant complication rate and still no clear evidence for foetal benefit, interventions should be performed in specialised centres. Furthermore, there is no randomised trial available at the time of writing. Selection of foetuses who may profit from prenatal intervention is aggravated by the lack of reliable prognostic criteria for the prediction of postnatal renal function in both ultrasound and foetal urine analysis. Previous reports indicate that prenatal therapy is suitable to reduce perinatal mortality but does not improve postnatal renal function. Vesico-amniotic shunting as well as (currently less frequent) foetoscopic cystoscopy and laser ablation of posterior urethral valves are minimally invasive treatment options. Foetal interventions in order to bypass the obstruction are biologically plausible and technically feasible. The degree of renal damage is variable and ranges from mild renal impairment in infancy to end-stage renal insufficiency, necessitating dialysis and transplantation. The natural history of LUTO is characterised by high morbidity and mortality due to the development of severe pulmonary hypoplasia caused by oligo- or anhydramnios affecting the cannalicular phase (16-24 weeks of gestation) of pulmonary development. In female foetuses LUTO is frequently a part of complex malformations. ![]() The most common entities are isolated posterior urethral valves or urethral atresia in male foetuses. The aetiology of urinary tract obstructions (LUTO) is heterogeneous.
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