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Down syndrome diagnosis difficult for physicians, parents to discuss

Most expectant couples prefer their doctor tell them as soon as possible, according to new recommendations.

By — Posted Oct. 13, 2009

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Few physicians receive training in telling an expectant couple or new parents that their child has Down syndrome. Yet the chromosomal condition occurs in one of every 733 live births, researchers say.

New guidelines published online Sept. 28 in the American Journal of Medical Genetics spell out how physicians should deliver the news when the diagnosis is made prenatally. Guidance on how to tell parents their baby was born with the condition was posted online the same day in Pediatrics.

The guidelines were developed by a 29-member research team of geneticists and pediatricians led by Brian Skotko, MD, a clinical fellow in genetics at Children's Hospital Boston, who also is on the board of directors of the National Down Syndrome Society.

The team reviewed surveys and studies and found that most medical students said they had not received any clinical training "regarding individuals with intellectual disabilities." Researchers said 45% of obstetric fellows in a 2004 survey said their training in informing parents of a Down syndrome diagnosis was "barely adequate or nonexistent."

"Nearly every obstetrician can expect to have a conversation with expectant parents about the realities of life with Down syndrome, but very little research has been dedicated to understanding how physicians should communicate the news," Dr. Skotko said.

The researchers also queried parents who received the diagnosis and incorporated their comments into the guidelines. Most expectant couples preferred that their physician, rather than another health care professional, inform them of a Down syndrome diagnosis.

Women who undergo definitive prenatal testing for the syndrome, rather than screening, said they preferred to receive the diagnosis as soon as possible and in the presence of their husband or partner. Those who opted to receive the news in a scheduled phone call said they were better prepared than those who got the news in an unexpected call, Dr. Skotko said.

Parents who learn at birth that their infant has Down syndrome want to have access to complete and accurate information, the condition's cause and its practical impact on a family. New mothers preferred to have the news delivered in a respectful, nonjudgmental way. "Research has shown that mothers forever remember the first words that their physicians use," researchers wrote.

The American Journal of Medical Genetics abstract is available online (link).

The Pediatrics abstract is also online (link).

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