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Unilateral renal agenesis is defined as the absence of one kidney with visible bladder and normal amniotic fluid. The objective was to describe the association between unilateral, bilateral renal agenesis, and ectopic kidney with other major abnormalities or genetic alterations. A review of the ultrasound database identified fetuses with unilateral, bilateral renal agenesis and ectopic kidney from 2011 to 2020. [Extracted from the article]

First trimester screening and non-invasive prenatal testing was low risk. Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterised by skeletal malformations of the upper limbs and congenital heart disease. Fetal autopsy confirmed ultrasound diagnosis of phocomelia and oligodactyly (presence of three fingers on both hands) associated with complex heart disease characterised by: right atrium enlargement, ostium secundum atrial septal defect, single atrioventricular valve (right side), hypoplastic left heart and ventricular septal defect showing a continuity fault in the aortic valve. [Extracted from the article]