Genetic tests show Kathleen Folbigg could be at risk of sudden death

The new evidence raises the possibility that Folbigg could be at risk of sudden death, a submission to the inquiry has said.

Director of the Italian Centre for Cardiac Arrhythmias of Genetic Origin Professor Peter Schwartz has told the NSW inquiry the "accusation of infanticide" against Hunter woman Folbigg for killing her four babies "might have been premature and not correct".

His opinion, in a letter to Australian National University Professor Carola Vinuesa on June 20, was later backed by Professor Vinuesa and three other specialists in a submission to former NSW District Court chief judge Reginald Blanch heading an inquiry into the convictions.

Identification of a genetic variant in Folbigg and her daughters Laura and Sarah "justifies fully re-opening the case because it raises significant doubts to a significant extent" that the children were killed, Professor Schwartz said.

In the later submission Professor Vinuesa, Professor Schwartz and three other specialists said it was "likely that the two female Folbigg children died as a result of the CALM2 G114R variant, while the two male children died from different causes that could also be genetic".

Folbigg, 50, was jailed for at least 25 years in 2003 after she was found guilty of killing her four babies, Caleb, Patrick, Sarah and Laura, at Singleton in the decade from 1989.

Folbigg has denied killing her babies.

Professor Vinuesa, Professor Schwartz and three other specialists said the Folbigg case as "an exceptional clinical scenario".

"Rare genetic variants are by definition responsible for exceptional clinical scenarios," they said in a submission.

"We regularly deal with, and publish papers on, exceptional clinical scenarios."

The five specialists rejected the view of a team of Sydney specialists that Folbigg's electrocardiogram results show she is not at risk of sudden death.

"The conclusion that Kathleen Folbigg is unaffected by the variant is still premature," Professor Vinuesa, Professor Schwartz and the three other specialists said.

The inquiry has already been told Folbigg has had a long history of recurrent transient loss of consciousness and fainting that started in childhood.

"She had multiple faints in childhood, often during intercurrent illnesses, and as a teenager she recalled multiple episodes of sudden post-exertional syncope, some of them witnessed (one while swimming requiring her to be dragged out of the pool)," the five specialists said in their submission.

"There have also been several syncope episodes recorded in her prison health records made available to the inquiry, at least one witnessed and one causing an injury to the head and bleeding requiring medical attention. The cause of these syncopal episodes remains unknown."

The five specialists rejected the Sydney team opinion that the relevant genetic variant had not been reported as a cause of sudden infant death syndrome of an infant while asleep.

The recently released 2019 student included five cases of sudden death or cardiac arrest while asleep caused by the relevant genetic variations, the inquiry was told.

In an email to a Sydney specialist in February, published on the Folbigg inquiry website today, Professor Vinuesa noted it would be "important to also have a detailed cardiac-related clinical history from Mr Folbigg's side of the family, since I understand that one of his nephews died of sudden infant death syndrome".

"This information will be important to interpret variants," the professor said.

The Folbigg inquiry was ordered by Attorney General Mark Speakman in August after a University of Newcastle Legal Centre team petitioned the NSW Governor for the inquiry in 2015 after a two-year investigation of the Folbigg case.

The investigation focused on the lack of evidence the babies were suffocated and the incidence of three or more baby deaths in the one family from unidentified natural causes.