Claim for failure to identify and investigate risk of significant genetic condition during pregnancy

We settled a claim against East Cheshire NHS Foundation Trust for the mismanagement of our client’s antenatal care and failure to detect a genetic condition, mosaic trisomy 18 (also known as Edwards' syndrome).

When our client became pregnant her pregnancy was considered low risk and she had a number of routine antenatal scans including a dating scan at 11 weeks and an anomaly screening scan at 20 weeks. During the anomaly scan, the sonographer was unable to check the face and stomach of the baby and a further scan was arranged which showed a right cleft lip. 

She was referred to the consultant for review and also to the Cleft Lip Specialist team where she was advised that there was unlikely to be any long term implications for the baby with a cleft lip, although a longer period of hospitalisation may be required together with help with feeding. 

Following this, the pregnancy seemed to proceed without complication and our client went into labour and gave birth a couple of weeks before her due date. Unfortunately at birth, her baby had respiratory distress and was noted to have multiple abnormalities which included extra rudimentary digits on both hands, a club foot and a prominent coccyx, in addition to the cleft lip. Our client was advised that her son had Edwards' syndrome and that his prognosis was extremely poor. Although he was transferred for specialist care, treatment was withdrawn as his prognosis was deemed to be poor and he sadly passed away at the age of two weeks. 

When our client became pregnant again, she was advised that the cleft lip and extra fluid around the baby were potential signs of a fetal abnormality and, in the circumstances, she should have been offered an amniocentesis to investigate further. This is a medical procedure used in antenatal diagnosis of chromosomal abnormalities.

We were instructed to investigate a claim against the Trust and supportive evidence was obtained from a fetal medicine consultant. On the basis of the evidence obtained, a formal letter of claim was submitted. The allegations against the Trust were that, given the evidence of cleft lip, a referral should have been made to a fetal medicine specialist following the anomaly scan. If this had happened, a repeat scanning and amniocentesis would have been offered which would have confirmed the diagnosis of Edwards' syndrome and termination of pregnancy would have been offered and accepted given the known likely outcome for any baby born with this condition. 

At the same time as serving a letter of claim, a Part 36 offer to settle the case was made on behalf of our client. 

The NHSLA was instructed to investigate matters on behalf of the Trust and, following its own investigations, a letter of response was served in which a full admission of breach of duty was made.  At the same time, the NHSLA accepted our client’s Part 36 offer and offered a formal apology to her for the distress that these events had caused. It also acknowledged that the failings should not have occurred.

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