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New autopsy to look into unexplained deaths

April 24, 2014
Associated Press

LANCASTER, Pa. (AP) — For families like the Hillards in Leola, it is a nightmare followed by frightening questions.

The nightmare: Their 6-month-old son, Camden, died in his sleep in February.

The questions: What happened? And does some unknown family medical problem threaten their surviving 3-year-old daughter, Cali?

Local doctors and medical authorities are taking the first steps to find answers to these kinds of questions by preparing for a new type of autopsy.

Called a molecular autopsy, it uses genetic testing to discover if there are inherited medical problems, usually heart-related, in victims who die suddenly from no apparent cause.

Starting next month, the Lancaster County Coroner's office will begin collecting blood samples, and soon after that, tissue samples, from everyone who undergoes an autopsy at the county forensic center.

The samples will be kept for possible later use for genetic testing for victims of sudden, unexplained deaths, particularly infants, children and young adults.

The move is possible because the technology for genetic testing is now more readily available and the cost of such testing is coming down.

Now is the time to start unraveling the mystery, and the possible risks to survivors, posed by unexplained deaths, doctors say.

"We are in the midst of a genetic revolution," says Dr. Devyani Chowdhury, a pediatric cardiologist with LG Health Pediatric Specialists, who recently organized a local symposium on molecular autopsies and called together a group of doctors from across the state to advocate for the procedures.

Physicians at the Mayo Clinic will be doing a molecular autopsy on Camden Hillard, via a research project at the Minnesota facility, as the child died shortly before the sample collection and move toward more organized genetic testing began here.

"After Camden passed away, our immediate thought was if Cali had something, we wanted to find that out," says Camden's mother, Julie. "Genetic testing would give us a sound mind, especially if there was a condition with his heart, or anything like that."

Lancaster County Coroner Dr. Stephen Diamantoni says coroners need to take steps so that they have the proper samples for possible genetic testing. That led to his move to start to routinely take blood and eventually tissue samples from those undergoing autopsies here.

"This is cutting edge stuff," says Kevin Stroyan, Pike County coroner and president of the Pennsylvania State Coroners Association. "It has great potential. ... Dr. Diamantoni is on the ground floor of this research."

Diamantoni sees several unexplained deaths every year, often among infants or among people in the Plain Sect population, who may be subject to one of a number of underlying genetic conditions particular to that group.

Occasionally Diamantoni's office will order genetic testing and now he wants to have the proper blood and tissue samples available for broader testing down the road.

Chowdhury says such testing is very important to parents, who are wondering if their surviving children are in danger from a genetic disorder that felled a child, or if future children could be at risk of a disorder.

"The first step is to develop the mechanism to have the DNA available," she says.

The coroner's office pays for genetic testing, which can range from several hundred to several thousand dollars, if it deems it necessary to determine the cause and manner of death.

Diamantoni does not expect the sample collection will be expensive, as necessary materials are not costly and the collection routinely can be added to autopsies.

And the cost of the genetic testing, he says, may be outweighed if it eliminates the need for other expensive testing often done to try to find a cause of death.

For families, the tests will answer gnawing questions. Julie Hillard and her husband, Chad, have no known family history of medical problems. They are hoping the molecular autopsy will reveal if there is one in their background so they can take the appropriate steps to protect their daughter.

"We're grateful," Julie Hillard says, "that we can have it done."

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Online:

http://bit.ly/1iQKTDb

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Information from: Intelligencer Journal/Lancaster New Era , http://lancasteronline.com

 
 

 

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