Related Experiment Video
Updated: Jul 26, 2026

FISH for Pre-implantation Genetic Diagnosis
Published on: February 23, 2011
Prenatal diagnosis: does it alter outcome?
1Leeds Teaching Hospitals and University of Leeds, Leeds, UK. D.F.M.Thomas@leeds.ac.uk
Abstract:
The prenatal detection of urinary tract anomalies is changing paediatric practice but in many areas the impact on clinical outcome remains difficult to quantify. However it is already apparent that termination of pregnancy has reduced the numbers of infants with lethal pulmonary hypoplasia and renal dysplasia who would previously have been liveborn but destined to succumb as neonates. Similarly, referrals of major non lethal abnormalities such as bladder exstrophy are declining as parents increasingly opt for termination. Fetuses at greatest risk of early onset postnatal renal failure can now be identified with considerable accuracy on prenatal ultrasound. Termination, prompted by quality of life considerations, could result in reduced numbers of infants and young children requiring end stage renal failure treatment in the first few years of life. Pre natal detection of anomalies such as PUJ obstruction and reflux undoubtedly provides an opportunity to avert functional deterioration and minimise urinary infection. But the proportion of children who genuinely benefit has proved difficult to assess. The prenatal detection of mild dilatation is of doubtful benefit in all but a minority of cases. Clinically significant underlying pathology is rare yet this common prenatal finding often generates disproportionate parental anxiety.
Related Concept Videos
Pedigree Analysis
Regression Toward the Mean
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Meiosis vs. Mitosis
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
Teratogenicity
Pathophysiology of Diabetes
Type 1 diabetes is characterized by autoimmune-mediated destruction of pancreatic β cells, with environmental factors potentially triggering this process in genetically susceptible individuals. Despite many not having a family history, certain genes increase susceptibility, suggesting a...

