Genetic syndromes and prenatally detected renal anomalies.
Renal anomalies are frequently detected on the routine second trimester scan offered to all pregnant women in the UK. These anomalies may be isolated but can also be associated with other congenital anomalies. Many combinations of ultrasound scan findings constitute recognised genetic entities. Knowledge of these conditions is essential for adequate management of the pregnancy and subsequent balanced parental counselling. This short review discusses the common genetic syndromes associated with the renal abnormalities identified on the antenatal ultrasound scan, and also provides an overview of renal symptoms in chromosome imbalances and after teratogenic influences.
Deshpande
C
C
Department of Clinical Genetics, Guy's Hospital, London, UK. charu.deshpande@gstt.nhs.uk
Hennekam
R C M
RC
D001506:Beckwith-Wiedemann Syndrome / Q000175:diagnosis; D002869:Chromosome Aberrations; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D030342:Genetic Diseases, Inborn / Q000175:diagnosis*; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging; D016104:Oligohydramnios / Q000453:epidemiology / Q000503:physiopathology; D006831:Polyhydramnios / Q000209:etiology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D013577:Syndrome; D016216:Ultrasonography, Prenatal