Survey: Down syndrome diagnoses found wanting

A survey of mothers in the March issue of the American Journal of Obstetrics and Gynecology found that obstetricians and genetic counselors are falling short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. Mothers who have children with Down syndrome, diagnosed prenatally, reported that doctors did not tell them about the positive potential of people with Down syndrome nor did they feel like they received enough up-to-date information or contact information for parent support groups. Further, the mothers report that all of these shortcomings are happening at an emotional time when women have to decide whether or not to continue their pregnancies. This study remains the largest and most comprehensive study on prenatally diagnosed Down syndrome to date.
One mother in the study reported that her genetic counselor “showed a really pitiful video first of people with Down syndrome who were very low tone and lethargic-looking and then proceeded to tell us [in 1999] that our child would never be able to read, write, or count change.”

The study was conducted by Brian Skotko, a student at Harvard Medical School (HMS) and Harvard’s John F. Kennedy School of Government, and supported by the Tim White Fund from Children’s Hospital Boston and a part-time research grant from HMS.

Skotko mailed an 11-page survey to nearly 3,000 members of five Down syndrome parent organizations in California, Colorado, Massachusetts, North Carolina, and Rhode Island. Of the 1,250 responses, approximately 140 were from mothers who had received a definitive prenatal diagnosis through amniocentesis or chorionic villus sampling (CVS).

“Doctors continue to find it very challenging to deliver a diagnosis like Down syndrome to an otherwise happy expectant mom,” says Skotko, who has a 24-year-old sister with Down syndrome and co-authored the award-winning book “Common Threads: Celebrating Life With Down Syndrome” (Band of Angels Press). “But the results of this study are conclusive: Delivering a prenatal diagnosis of Down syndrome does not have to be a gloomy affair. In fact, mothers in this study have now written the prescription on how best to explain the diagnosis in a loving manner.”