Newborn Genetic Screening

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There is nothing more important to parents than their child’s health, but sometimes a child who looks healthy may not be.

However, there’s one test that can find illnesses hiding in plain sight, and even save your child’s life.

James Stamateris is like any 12-year-old baseball enthusiast, but he has a serious blood disorder called thalassemia major. The life-threatening illness can be picked up at birth, but in James’ case, it wasn’t.

“My doctor, I assumed, did the appropriate test, and genetic testing wasn’t offered at the time,” mother Amy Celento said.

The condition was diagnosed almost by accident by a routine blood test when he was a year old. Now, James is treated with blood transfusions every three weeks. The treatment immediately boosted his energy and personality.

“His caregiver at daycare, the first time he had a transfusion, they said, ‘oh my gosh, James is playing with everyone,'” Amy Celento said.

Now, most children with conditions like thalassemia major are diagnosed within days after birth by automatic genetic screening, done by a quick heel prick and a drop of blood. Most states test for more than 30 different disorders.

“These disorders are predominately ones that the child appears perfectly well,” Dr. Patricia Giardina, of New York Presbyterian Weill-Cornell, said. “Even the pregnancy would have gone perfectly normally, but lo and behold, the child might have a rare disorder.”

Thanks to newborn screening tests, nearly 12,000 babies each year are diagnosed with serious or life-threatening disorders, and the conditions are picked up before the symptoms even start.

“Early detection can oftentimes lesson the complications or symptoms of the disease, and perhaps even prevent complications from occurring,” Dr. Giardina said.

A growing number of parents are opting out of the testing over confidentiality concerns, but experts say there’s no reason for worry.

“Confidentiality is something that we highly respect in medicine, and we’re very cautious about preventing information from being released without the families’ permission, “Dr. Giardina said.

James Stamateris’ mother says the benefits far outweigh the risks.

“I would say do it,” Celento said. “If it’s an option, then it’s being offered to you. Do it.”

In New York State, genetic screening is done automatically, unless a parent chooses to opt out.

The information is kept under lock and key at the State Department of Health. Parents can request for their children’s records to be returned to them at any time.

More than four million children undergo genetic testing each year.

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