IVF mothers screened for disease gave birth to babies with genetic defects... after horror mix-up at fertility lab

How ‘cutting-edge’ tests failed due to human error

TWO babies were born with incurable diseases after shocking blunders in IVF treatment that should have screened out the dangerous inherited conditions.

Both mothers had gone to the same clinic to ensure they did not pass on life-limiting illnesses that ran in their families.

But mistakes at a laboratory used by the CARE Fertility Nottingham IVF clinic resulted in the outcome the women had so desperately wanted to avoid.

The fertility watchdog has damned the incidents as ‘grade A’ errors – the rare and most severe type.

One mother wanted to screen out sickle cell anaemia – a serious blood disorder that can lead to complications including strokes, breathing problems and high blood pressure.

The other patient wanted to stop her child from developing neurofibromatosis, which causes tumours to grow along the body’s nerves and can reduce a sufferer’s lifespan by up to 15 years.

But after mistakes by a laboratory used by the clinic, both women became pregnant and gave birth to babies who had these illnesses.

The mix-up is revealed in a report which has been published by the Human Fertilisation and Embryology Authority (HFEA).

The couple whose baby has neurofibromatosis – which carries the risk of major problems including

‘This is devastating

for the couples’

learning difficulties and cancer – were ‘distraught’ when the clinic broke the news, according to the medical director of CARE Fertility Nottingham, Maha Ragunath.

A spokeswoman for HFEA said last night: ‘These two incidents are very serious and have no doubt been devastating for the couples involved. They had treatment to have a healthy child but may now have children affected by a serious genetic condition.’

The two mothers’ identities have not been disclosed. They originally went to the clinic for a pre-implantation genetic diagnosis (PGD) – a cutting-edge technique that allows genetic testing of an embryo for inherited diseases before it is implanted as part of IVF treatment.

Under strict regulations, this type of screening is available only to women who are at high risk of passing on a serious genetic disorder. The clinic, which also treats NHS patients, charges £4,840 to screen for a single gene disorder. It is not known if the two women were being treated on the NHS or privately.

The clinic screens its embryo samples at a Nottingham laboratory run by Genesis Genetics Europe (GGEu). Describing itself as a pioneer in screening embryos for inherited genetic abnormalities, the company’s products include Genesis Serenity, which it calls ‘the best performing non invasive prenatal test’.

The mother whose child developed neurofibromatosis began IVF treatment in June 2013. The lab reported back to the clinic that three of her embryos were affected by neurofi- bromatosis, but two were clear. The clinic discarded the three embryos with the gene disorder.

Of the two embryos deemed by the lab to be free of the genetic defect, one was frozen for future use and the second was implanted in the would-be mother’s womb.

Shortly after the woman was told she was pregnant. But the next day the lab contacted the clinic to say the PGD results had been misinterpreted by its staff. The implanted embryo had the defective gene, while the three discarded had been healthy. The clinic told the woman and her partner about the mistake two days later and she had to decide whether to have an abortion or continue with the pregnancy. She opted to keep the child, who is believed to have been born in early 2014.

In the case of the second woman, sickle cell anaemia ran in her family and she already had a child with the condition. The woman had IVF treatment and genetic screening of her embryos in 2008, but did not become pregnant.

After this first attempt she had two frozen embryos stored at the Nottingham clinic. Four years later she decided to have these transferred to a London fertility centre to be implanted and this time the procedure was successful. But after the woman gave birth, tests revealed the baby has sickle cell anaemia.

The Nottingham lab had failed to utilise newer techniques that were unavailable in 2008 that would have increased the likelihood of the condition being screened out.

An HFEA spokeswoman said last night that after an investigation it was satisfied the neurofibromatosis case was an ‘isolated incident’ rather than due to poor practice. The regu- lator stressed that GGEu had now introduced a system for retesting frozen embryos where necessary.

Professor Simon Fishel, managing director of CARE Fertility clinics, confirmed the continued use of the Genesis Genetics laboratory services. ‘Although we are very upset that the misdiagnosis occurred, there is always an element of risk with cutting-edge medicine,’ he said.

Genesis Genetics UK laboratory director Tony Gordon said: ‘The matters in question are subject to ongoing, complex investigations and proceedings.’