New guidelines for physicians: How to give a diagnosis of Down syndrome

Every mother and father who has a child with Down syndrome remembers vividly when they first learned of the diagnosis.

There are better ways than others to inform an expectant parent of a diagnosis of Down syndrome but to date, there have been no standard guidelines for physicians. Brian Skotko, Thrive

Some doctors have always delivered the diagnosis well, but many families have reported unnecessarily negative experiences. Previous guidelines have been written, but their distribution and uptake was often patchy at best.

Two papers are published online by medical journals this week, to guide physicians in the sensitive task of telling parents that their baby has Down syndrome. Paediatrician, researcher and co-author (with Dr George Capone and Dr Priya Kishnani, for the Down Syndrome Diagnosis Study Group) has published links to each of the papers, and background information into how they came about, on Thrive, the Children's Hospital of Boston's health and science blog.

Patricia Bauer says, " Advocates and physicians have been calling for guidance on delivering diagnoses ever since the American College of Obstetricians and Gynecologists (ACOG) recommended in 2007 that obstetricians offer prenatal screening and testing for Down syndrome to all pregnant women, regardless of age.

The 2007 ACOG recommendations were not accompanied by any assistance to doctors in delivering diagnoses, and many doctors have reported in survey research that they haven’t gotten professional training about individuals with intellectual disabilities, or about prenatal diagnosis or counseling expectant parents."

Professional bodies around the world have endorsed or are considering similar recommendation about prenatal testing, so the new guidelines are authoritative, welcome, and will be easy to disseminate.