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 I
have recently reported to you the results from my study on how physicians
could better convey a diagnosis of Down syndrome after a child is born. As many of you know, however, Down syndrome can now be diagnosed prenatally, as early as the first trimester of pregnancy. The process of conveying a prenatal diagnosis is decidedly different: obstetricians or genetic counselors are typically the professionals delivering the prenatal news whereas neonatologists or pediatricians customarily convey postnatal diagnoses. Further, mothers who receive a prenatal diagnosis have the option of deciding whether or not to continue their pregnancies.
Two
years ago, I asked mothers who have children with Down syndrome to respond
to a survey, examining how they had received the diagnosis for their child.
Of the 1,250 responses that poured in, 141 were from mothers who had received
definitive diagnoses of Down syndrome before their child was born. I am
delighted to inform you that the reflections and recommendations of these
mothers will now have a national voice in the leading medical journal, "American
Journal of Obstetrics and Gynecology," where my study has been published
in the March issue. [Volume 192, Issue 3, March 2005, Pages
670-677.]
The
purpose of my study was to ask mothers who had children with prenatally
detected Down syndrome: How did your physician convey the information
and what, if
anything, could have been better? Five parent support groups — the
Massachusetts Down
Syndrome Congress (Massachusetts), the Mile High Down Syndrome Association
(Colorado), the Triangle Down Syndrome Network (North Carolina), the
Down Syndrome Association of Los Angeles (California), and the Down Syndrome
Society of Rhode Island (Rhode Island) — distributed copies of my
research survey to all of the mothers on their mailing lists. Thanks to
generous responses, mothers have made this the most comprehensive and
robust study on the topic of prenatally diagnosed Down syndrome, to date.
As
you might know, all pregnant women over the age of 35 are offered prenatal
testing for Down syndrome, and younger women are increasingly requesting
such tests on their own. Typically, although not necessarily, mothers will begin
with a prenatal screening test like the triple screen, quadruple screen, or the newest
combination of maternal serum markers and ultrasound findings. The results from these
tests simply give a pregnant woman an odds-ratio as in, “You have a 1 in 847 chance of
having a child with Down syndrome.” Based on these numbers, many mothers will go on
to have one of the two definitive prenatal tests: chorionic villus sampling (CVS) or
amniocentesis. The results from these tests are conclusive.
The
majority of mothers sampled in my study felt anxious and scared after
receiving the results from the amniocentesis. While mothers who received
prenatal care
within the past five years seemed especially satisfied with the care
that they received,
they reported that the 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.
Through
their collective responses, mothers have now asked obstetricians and
genetic counselors to adopt 7 recommendations when delivering a
prenatal diagnosis of Down syndrome:
(1)
Results of the prenatal screening should be clearly explained
as a risk assessment, not a “positive” or “negative” result. Many mothers understood the triple or quadruple screen to be an all-or-nothing
statistic.
Physicians need to explain, in plain English, what the odds ratios
mean so that
mothers can make an informed decision on if and how to proceed
with more
definitive testing.
(2)
Results from the amniocentesis of CVS should, whenever possible, be
delivered in person, with both parents present. Mothers
who had to learn
of the diagnosis by telephone reported intense resentment for
their obstetricians and/or genetic counselors. Ideally, physicians
should ask that all persons receiving prenatal testing to return, in person, to hear
the results.
(3) Sensitive language should be used when delivering a diagnosis
of Down syndrome. Mothers requested that physicians
not begin by saying, “I’m
sorry,” or “Unfortunately, I have some bad news to
share.”
(4)
If obstetricians rely on genetic counselors or other specialists to explain
Down syndrome, sensitive, accurate, and consistent messages must be conveyed. One
mother wrote 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.”
(5) Physicians should discuss all reasons for prenatal diagnosis
including reassurance, advance awareness before delivery of the diagnosis
of Down syndrome, adoption, as well as pregnancy termination. Physicians
must now realize that many mothers who opt for prenatal testing have no intentions
of terminating their pregnancies and are offended by their physicians’
assumptions that they would do so.
(6)
Up-to-date information on Down syndrome should be available. Mothers
have requested two kinds of information: accurate clinical
knowledge and “success stories” that demonstrate the potential and
possibilities for children with Down syndrome. The Healthcare Guidelines for
infants and toddlers with Down syndrome was cited for the clinical
information, and books such as Common Threads: Celebrating
Life with Down Syndrome, Babies with Down Syndrome:
A New Parent’s Guide, and Choosing Naia: A Family’s Journey were all found to be helpful as success stories.
(7)
Contact with local Down syndrome support groups should be offered, if
desired. Mothers consistently and overwhelmingly appreciated
when their
physicians provided contact information for local support groups.
One mother
reported that after talking to other parents, “I felt 100%
better and positive
about having my daughter.”
Interestingly,
mothers who received prenatal diagnoses were generally happier
over the birth of their infants with Down syndrome than mothers
who had received the news postnatally (as I had reported
to you previously). This difference might stem from
the fact that mothers who had prenatal testing tended
to resolve any grief before the child was born. Nonetheless,
141 mothers who have had prenatal testing have now spoken,
and their recommendations are constructive ones. Delivering
a prenatal diagnosis of
Down syndrome should no longer be viewed as a gloomy affair.
In fact, with the
appropriate sensitivity and explanation, obstetricians can
make the births of children with
Down syndrome celebratory experiences for those mothers who
choose to continue their
pregnancies after receiving prenatal diagnoses.
You
can ensure that this is so by sharing the complete study with the obstetricians
and genetic counselors in your surrounding area. (The complete
report is available online
at www.mhdsa.org.)
Financial support for this research was generously provided
by the Tim White
Fund from Children’s Hospital Boston and a part-time
research grant from Harvard
Medical School.
Brian
Skotko is a joint-degree student at Harvard Medical School
and Harvard's John F. Kennedy School of Government. He has a 24-year-old
sister with Down syndrome and has co-authored the book, Common
Threads: Celebrating Life with Down Syndrome. He can be contacted
at Brian_Skotko@student.hms.harvard.edu.
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