We recently settled a claim for our client, whose baby daughter was born with Patau’s syndrome following clinical negligence by her GPs and the hospital antenatal clinic. She tragically died at four months of age, and our client developed post-traumatic stress disorder (PTSD) which still persists, six years after the event.
Patau’s syndrome – otherwise known as ‘Trisomy 13’ (T13) – is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Common features of this condition include heart defects, brain or spinal cord abnormalities, extra fingers or toes (polydactyl), weak muscle tone (hypotonia), very small or poorly developed eyes (microphthalmia), renal abnormalities, and a cleft lip and cleft palate. Most babies born with this condition survive days or weeks; only 5-10% live past their first year.
Several antenatal screening tests are available for Patau’s syndrome. One of them, the ‘combined test’, can only be performed between around 11 and 14 weeks into the pregnancy. The test is so called because it combines an ultrasound scan with a blood test. The scan involves measuring the fluid at the back of the baby’s neck to determine the ‘nuchal translucency’. A mother’s age and the information from these two tests are used to work out the chance of having a baby with Patau’s syndrome (as well as Down’s and Edwards’ syndrome).
If the test produces a ‘higher risk’ result (defined as a 1 in 150 chance of the fetus being affected), the mother is offered more invasive testing of the amniotic fluid (amniocentesis), placental tissue (CVS) or fetal blood sampling. If combined screening does not take place, ‘quadruple’ blood screening is offered between 14 and 20 weeks of pregnancy, although this only screens for Down’s syndrome; it does not screen for Edwards’ or Patau’s syndrome.
Prior to the events of this case, our client had undergone an uncomplicated pregnancy and given birth to a healthy baby girl in May 2017. She became pregnant with her second baby, and on 9 November 2017, she attended her GP to advise them of the pregnancy. She told her GP that the date of her last menstrual period (LMP) was 3 October 2017. Her GP advised her to return for a review and referral to the antenatal clinic in three weeks’ time. It was our client’s case that there was no justification for a three week delay, and that this constituted a breach of duty.
Our client returned on 30 November and was seen by another GP at the surgery. The GP correctly noted her LMP in the records as 3 October 2017 and referred her to the antenatal clinic the same day. However, on the maternity care referral form for antenatal care, he incorrectly stated that the date of her LMP was 9 November 2017 – over five weeks later than the correct date. This error would prove to have tragic consequences.
By mid-December 2017 our client became concerned that she had not received an appointment date with the antenatal clinic. Her partner telephoned the GP surgery to request that the appointment be followed up. On 9 January 2018 another GP at the practice submitted a further copy of the maternity care referral form with our client’s LMP date corrected to 3 October 2017. However, due to the previous error on the referral form, our client was incorrectly assigned as a ‘Priority 2’ (seven weeks’ to 10+6 weeks’ gestation), rather than a ‘Priority 1’ (11+6 weeks’ to 12+6 weeks’), and this had the knock-on effect of delaying her first antenatal appointment, which did not take place until 18 January 2018.
At her first antenatal appointment at the hospital, our client had an ultrasound scan, which dated the pregnancy at 15+6 weeks’ gestation, providing an estimated due date of 6 July 2018. By this time the pregnancy was too advanced for combined screening, and so the option of quadruple screening (testing for Down’s syndrome only) was offered, and carried out. Quadruple screening does not include Patau’s syndrome.
The sonographer told our client that she was concerned that she could see a hole in her baby’s heart and asked her to return for another scan, but no abnormalities were noted in the records. She was reassured at the next scan that everything was normal. Our client was concerned about fetal anomalies given her age and awareness of increased risks. She asked about amniocentesis and/or CVS, but she was reassured that this was not required.
A growth scan at 31+6 weeks’ gestation showed enlarged kidneys with cyst formation, and polycystic syndrome was suspected. She attended an appointment with a paediatric surgeon, who assured her that it was not a concern. It was our client’s case that there was a failure to consider a possible diagnosis of Patau’s syndrome.
Our client went into labour on 8 July 2018, and she gave birth to her baby daughter the following morning. It was immediately obvious to her and her partner that their baby had significant physical abnormalities. She had the characteristic features of Patau’s syndrome, including polydactyl (extra fingers and toes), microcephaly (small head size), cleft lip and palate, and microphthalmia (small eyes). Our client and her partner were initially given reassurances by the staff, but their baby developed respiratory distress and was admitted to the neonatal intensive care unit (NICU).
Whilst in NICU, it was noted that she had meconium aspiration, suspected sepsis, jaundice, large VSD (ventricular septal defect) and thrombocytopaenia. Our client and her partner became increasingly concerned and anxious about their daughter and started to suspect that she was suffering from some form of rare condition or genetic disorder. It was not until 24 July 2018 that they were advised by clinicians that their daughter had Patau’s syndrome. This was devastating news and they felt that it was delivered in an unsympathetic manner.
Our client’s daughter was discharged home in October. She was on various medications, including oral morphine, and was on oxygen ventilation for apnoeas. She had a naso-gastric tube in situ. Our client noticed that her baby looked like she was in increasing pain. She and her partner provided devoted care with the help of family, however they watched as their daughter’s condition inevitably deteriorated. She had further admissions to the hospital due to increased apnoeas and oxygen desaturation. Both parents felt unsupported by the hospital clinicians.
On 14 November 2018 our client’s daughter tragically died due to prolonged apnoea. This caused particular distress to our client, as she had wanted her daughter to be given oxygen in order to reduce her suffering. Our client began to experience symptoms of PTSD, including nightmares and flashbacks. She feels fearful, panicky and struggles to concentrate. She is now less social and more withdrawn. Her relationships have been significantly affected.
We obtained evidence from an expert general practitioner who confirmed that there was a breach of duty on the part of the two GPs our client attended prior to her antenatal referral. We also obtained evidence from a fetal medicine expert, who confirmed that had our client had the opportunity to undergo combined screening, she would have had a ‘higher risk’ result for Patau’s syndrome. She would then have undergone invasive testing which would have confirmed the diagnosis. Our client’s case is that she would have opted for a termination at that stage of her pregnancy. Our fetal medicine expert also confirmed that it was a breach of duty on the part of the hospital to fail to consider the diagnosis of T13 following the appearances of the kidneys on the growth scan.
We arranged for our client to be assessed by a consultant psychiatric expert, who confirmed a diagnosis of PTSD and a depressive episode, which would have been avoided but for the negligence. He considered that she would be unable to work for four to five years following the end of the litigation, whilst she undergoes a significant amount of psychological therapy.
Following receipt of supportive expert evidence, we sent letters of claim to three defendants: the two GPs and the hospital trust. The claim we brought was for wrongful birth: we alleged that our client’s daughter would not have been born but for the negligence. The hospital trust denied liability in their letter of response. The two GPs failed to provide letters of response, and so we started court proceedings against all three defendants.
We obtained an admission from the first GP in his defence, who admitted that it was a breach of duty to provide incorrect information on the maternity care referral form. We went on to secure an admission on causation, and it was conceded that but for this breach of duty, our client would have had the opportunity for combined screening, which would have produced a ‘high risk’ result for T13.
We managed to secure a negotiated settlement for our client, which included damages for her psychiatric injury, loss of earnings, and the additional care she has required from her partner and family, as well as damages to fund the psychological treatment she will need.
Rosie Nelson, senior associate in the clinical negligence team, commented: “This is one of the most tragic cases I have seen. It demonstrates the vital importance of access to antenatal screening and shows the devastating consequences when processes go wrong. Our client has shown exceptional bravery and determination throughout what has been a very challenging litigation process. No amount of compensation can take away from the trauma that she and her family have gone through, though she now has the financial security to pause her career and focus on her psychological therapy and recovery.”