Conrad Curry and the team at The Law Office of Conrad Curry recently resolved a claim for damages for ‘wrongful birth’ in the District Court of South Australia for the parents of a young boy who was born with Fragile X Syndrome, a genetic disorder which in his case caused mental retardation, very severe autism spectrum disorder and global development delay.

The mother of the child had been diagnosed in the late 1970’s as a carrier of the genetic disorder, having had an uncle and a brother with the full mutation of the disorder. She did not exhibit any symptoms of the disorder but was advised that as a carrier she could pass the disorder on, and that there was a 50% chance that a male would inherit the disorder in its extreme form. Having lived with a brother who had the full mutation of the disorder, she was well aware of the effects on the sufferer and their family.

She and her husband were extremely careful about planning their family and undertook the necessary genetic screening to ensure that they did not bring a child into the world who was afflicted with the disorder. In two prior pregnancies the mother underwent chorionic villus sample testing (‘CVS’) (a form of prenatal diagnosis to determine chromosomal or genetic disorders in the foetus) with a leading laboratory to ensure that the genetic disorder had not been passed on to the foetus. On one occasion the pregnancy was terminated very early on when the test proved positive for the full mutation of the Fragile X disorder. On the other occasion the test results proved negative and the couple went on to have a daughter who was not affected.

Given the couple’s efforts to have testing and the prior termination there could be no doubt that they would have made the decision to terminate had the testing been returned as positive.

When she fell pregnant for the third time, the mother approached the same laboratory to have CVS performed on the foetus. The couple were of course excited when the results were returned as negative for Fragile X. The mother went to full term and gave birth to a baby boy.

When the little boy was about 18 months old the couple became concerned that he was not meeting his milestones and consulted a paediatrician. Genetic testing was conducted on the child’s blood. The parents were shocked and dismayed when they discovered that their son in fact had the full mutation of the disorder. An investigation was conducted by the laboratory who advised the parents that the tests which were conducted at the time were state of the art, that the test conducted was the only test available and that the laboratory was a world leader in Fragile X genetic testing. The laboratory explained the errant result as a biological phenomenon. On the basis of what they had been told by the laboratory the couple accepted the explanation.

When they were introduced to other clients of the Law Office of Conrad Curry who had been successful in a case for wrongful birth, it was recommended that they get in contact with us. Our investigations and expert opinion revealed that in fact the laboratory had misrepresented the situation to the parents. The errant result arose because of a what is known as maternal cell contamination (‘MCC’), that is, where the foetal specimen comes in contact with maternal blood or tissue. MCC is a risk in prenatal testing in procedures such as CVS, amniocentesis or extraction of foetal blood from the umbilical cord.

In the opinion of two experts in the case, the laboratory did not properly implement testing to adequately exclude maternal contamination, and opted for a test known as PCR (polymerase chain reaction) rather than more accurate testing known as Southern Blot which is less susceptible to maternal cell contamination and more accurate in the diagnosis of full mutation Fragile X Syndrome. As it was discovered during the investigation into the case, Southern Blot testing was recognised at the time as the appropriate test to have been implemented, nor did they take appropriate measures to determine the level of maternal cell contamination in the PCR assay.

The couple commenced proceedings for the additional costs of raising the little boy as the result of his disability, for the mental harm that they had suffered as the result of the false test results, and their loss of income as the result of the almost constant care and supervision the little boy requires. Thankfully, the laboratory was very reasonable in the way that they negotiated the outcome in the case and the matter was resolved on terms which are confidential.

If your right to plan your family has been interfered with as the result of negligence in the area of genetic testing or IVF, please contact Conrad Curry for a no obligation discussion about your rights for compensation.