WRONGFUL BIRTH : CLINICAL NEGLIGENCE : DIAGNOSIS : ABNORMAL CHARACTERISTICS : EXPERT EVIDENCE : CONGENITAL DISABILITIES : EXAMINATION OF SLIDES : ABNORMALITIES : REASONABLY COMPETENT CYTOGENETICIST : SMITHS MAGENIS SYNDROME : LIABILITY : CHROMOSOMES : CYTOGENETICIST : FOETUS : CONGENITAL DEFECTS
Where an abnormality probably was visible on test slides a reasonably competent cytogeneticist should have seen it and either identified it or queried it sufficiently for further tests to be carried.
Trial on liability only in a claim for damages for the wrongful birth of the claimant’s (C) child in 1996. During the course of her pregnancy the mother had an amniocentisis to analyse the chromosomes of the foetus to determine whether the foetus had any congenital defects caused by the presence of numerical and/or structural chromosome abnormalities. The report received from the cytogeneticist indicated that no abnormality had been detected. However, after having given birth it was confirmed that C’s child had the congenital abnormality of Smiths Magenis Syndrome. The syndrome was a microdeletion syndrome. This was a small deletion and whilst it could be seen or suspected on cytogenetic analysis carried out by an analyst it required confirmation by way of a molecular technique test. The defendant NHS trust accepted that if a diagnosis of the syndrome had been made a termination of the pregnancy would have taken place. The evidence consisted of slides, which had been created at the time the amniocentesis test had been carried out in 1996. However, the quality of the sides had deteriorated with time and photographs of the slides formed the basis of the expert’s evidence. C submitted that no reasonably competent cytogeneticist would have failed to report the presence or possible presence of the syndrome on examination of the slides created by the amniotic fluid. The trust argued that the failure to detect the abnormality could be defended and that on the material available a reasonably competent cytogeneticist could have missed the microdeletion without any fault.
HELD: The approach to be followed in determining the issue of liability was laid out in Penney & ors v East Kent Health Authority (2000) Lloyd’s Rep Med 21. The judge was entitled to prefer the evidence of C’s expert as to what the slides showed. Although the syndrome was a rare microdeletion, cytogeneticists in 1996 were aware of it and were looking for it. Based on the material available, five out of the six people asked to look at the slides identified an anomaly in one of the chromosomes. Therefore, the abnormality probably was visible, and if it was visible then a reasonably competent cytogeneticist would have seen it and either identified it or queried it sufficiently for the molecular technique test to be carried out.
Judgment for the claimant.