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

Print  |   Email  |   Respond  |   Reprints  |   Like Facebook  |   Share Twitter  |   Tweet Linkedin

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).

Back to top



Read story

Confronting bias against obese patients

Medical educators are starting to raise awareness about how weight-related stigma can impair patient-physician communication and the treatment of obesity. Read story

Read story


American Medical News is ceasing publication after 55 years of serving physicians by keeping them informed of their rapidly changing profession. Read story

Read story

Policing medical practice employees after work

Doctors can try to regulate staff actions outside the office, but they must watch what they try to stamp out and how they do it. Read story

Read story

Diabetes prevention: Set on a course for lifestyle change

The YMCA's evidence-based program is helping prediabetic patients eat right, get active and lose weight. Read story

Read story

Medicaid's muddled preventive care picture

The health system reform law promises no-cost coverage of a lengthy list of screenings and other prevention services, but some beneficiaries still might miss out. Read story

Read story

How to get tax breaks for your medical practice

Federal, state and local governments offer doctors incentives because practices are recognized as economic engines. But physicians must know how and where to find them. Read story

Read story

Advance pay ACOs: A down payment on Medicare's future

Accountable care organizations that pay doctors up-front bring practice improvements, but it's unclear yet if program actuaries will see a return on investment. Read story

Read story

Physician liability: Your team, your legal risk

When health care team members drop the ball, it's often doctors who end up in court. How can physicians improve such care and avoid risks? Read story

  • Stay informed
  • Twitter
  • Facebook
  • RSS
  • LinkedIn