COUNTING BLESSINGS, NOT CHROMOSOMES - MCGOVERN MEDICAL ...
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“Disability is not a brave struggle or ‘courage in the face of adversity.’ Disability is an art. It's an ingenious way to live.” Neil Marcus Counting Blessings, Not Chromosomes Cecile Nguyen UTHealth School of Dentistry c/0 2021 Clinical Humanities Spring 2021
Abstract:
» Down syndrome (DS) remains the most common
chromosomal condition in the United States.
» About 1 in 700 babies are born with DS, about 6,000
babies each year.
» With the advent improved and accurate pre-natal tests
and screenings, choices about how to proceed with a
pregnancy following an unexpected diagnosis require
that a patient be offered accurate, objective
information about the condition of the fetus and about
potential challenges.1
» Thesis: Expectant parents are not receiving consistent
accurate, up-to-date, balanced information and support
immediately after receiving a diagnosis.
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O R G A N I C S C O M P A N Y
Introduction:
▪ In 2007, the American College of
Obstetricians and Gynecologists (ACOG)
recommended that pregnant women be
offered prenatal screening and diagnostic
testing for DS.
▪ In many countries, the choice about
whether to continue the pregnancy after a
prenatal diagnosis of DS is complex.
▪ The decision may be motivated attitudes
towards disability and termination,
socioeconomic factors, ultrasonic findings,
and more.2
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O R G A N I C S C O M P A N Y
Literature review:
▪ In 2009, Muggli et al. found that the time interval between birth and disclosure of a suspicion of
DS, the level of certainty and communication of the physician, and the time interval between
disclosure and an official diagnosis greatly affected parental coping.
▪ Unfortunately, health care providers across the nation are still distributing outdated information
to parents who receive a Down syndrome diagnosis or positive prenatal screening test.6
▪ The lack of consistency and accuracy in the information provided by health care providers often
conveys an inaccurate picture Down syndrome, resulting in avoidable stress and fear in families.
They are unable to make an informed decision on how to proceed.
▪ After a diagnosis, expectant parents are likely experiencing one of the most emotional and fragile
moments of their lives. It is imperative that they are provided with unbiased and holistic
information in a delicate manner.
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O R G A N I C S C O M P A N Y
Inconsistencies:
▪ Hospitals and other systems of care are not consistently prepared to provide appropriate family‐centered services
to individuals with Down syndrome and their families.4
▪ Information should be free of judgments or bias so that patients can make decisions based on their own values
and desires.1
▪ Most importantly, clinicians must omit their own personal opinions and respect a patient’s autonomy.
▪ Training physicians on how to deliver and communicate sensitive news could be improved.6
▪ Value-laden language (e.g., “I have bad news to share”) or offensive language (e.g., “mongolism,” “retarded”)
should be completely omitted, but on multiple occasions were not.1
▪ Many parents feel disoriented, emotional, and vulnerable after even a presumptive diagnosis of DS and will refer
to the medical profession for decision-making.
▪ Auxiliary services were uncoordinated and difficult to find; communication among providers and between
providers and parents was inconsistent
▪ Some states have implemented the Down Syndrome Information Act to bring about a more consistent, succinct,
and supportive introduction.
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O R G A N I C S C O M P A N YDown Syndrome Information Act (DSIA)
Since 2014, about 21 states have passed the Down
Syndrome Information Act. More states are considering
enacting it each year.5
What does the Act require?
» Heath care providers give accurate, quality
information to anyone receiving a prenatal or
postnatal diagnosis of Down syndrome and will be
comprised of the following:
• evidence-based written information about Down
syndrome reviewed by medical experts and Down
syndrome organizations
• contact information for first call and local, regional and
national support groups and other educational and
support programs
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O R G A N I C S C O M P A N YDid the act help?
▪ The National Society of Genetic Counselors has created a fact sheet which meets all the criteria of the
Act which states can use to implement the DSIA.5
▪ The information provided is balanced, educational, and sensible. The fact sheet provides a realistic and
positive vision of the future for parents and reliable support networks.
Example of the points in the fact sheet:
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O R G A N I C S C O M P A N YLiterature Review continued:
▪ The most comprehensive international systematic review
(1980-1998) previously concluded that the termination rate
after a presumptive diagnosis of DS was 95%.3
▪ In 2012 Natoli et al. conducted a systematic review for the
United States to update this information from 1995-2012.
▪ Evidence suggests that in recent years, the rate has been
decreasing.
▪ The review included 24 studies
▪ The weighted average of the studies had a terminated rate
of 67% (range 61-93%)
▪ However, the authors acknowledge that, “the range of
termination rates observed across studies suggests that a single
summary termination rate may not be applicable to the entire
US population.”
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O R G A N I C S C O M P A N YDiscussion:
Downward Trend
» According to Natoli et. al, there are two reasons for the downward trend in termination rates:
• First: There is evidence that termination rates in general are decreasing among younger women. This may be
due increased access to birth control methods. Younger women also elect for prenatal screening, which may
have acted to decreased the rate as well.
• Second: Medical management of raising a child with DS has significantly improved since the 1980s. There is
more educational, social, and financial support for families of children with DS. The enactment of the DSIA falls
under this category.
Sufficient Support
» Down syndrome advocates and organizations can make sure expectant parents get accurate, up-to-date,
balanced information and support immediately after receiving a diagnosis. Providing enough resources is
essential.
» Due to perinatal complications, parents have increased anxiety regarding their child's condition and future.
» Individual communication style of physicians was a powerful predictor of parental adaptation.
• Small gestures such as congratulating parents on the birth of their child were much appreciated by the parents and Muggli et
al. found that this was rare, which was disheartening.
» Physicians communication and continuity of careBEST
beforeFOR
and after
You birth could be improved.
O R G A N I C S C O M P A N Y
9Conclusion: ▪ Historically, a Down syndrome diagnosis was seen as a burden to families raising a child with DS. ▪ While opportunities may be limited and more parental engagement is required, the possibility for the family and child with DS to lead of fulfilling life is not. ▪ Up-to-date, unbiased information is crucial for parents to make an informed decision on moving forward with the pregnancy, termination, or adoption. ▪ The Down Syndrome Information Act has improved the delivery of accurate information, though 29 states still have not implemented the Act. ▪ The verbal and non-verbal communication of healthcare professionals potentially have a lifelong impact on parents. ▪ If possible, early diagnosis is best to begin discussions with the expectant parents in a thoughtful and confidential way. ▪ Improvement of all these factors can help parents cope and move forward positively resulting in better quality of life for all individuals.
Works Cited:
1. AMA J Ethics. 2016;18(4):359-364. doi: 10.1001/journalofethics.2016.18.4.ecas1-1604.
2. Natoli JL, Ackerman DL, McDermott S, Edwards JG. Prenatal diagnosis of Down syndrome: a systematic review of termination
rates (1995–2011). Prenatal diagnosis. 2012;32(2):142-153. doi:10.1002/pd.2910
3. Mansfield C, Hopfer S, Marteau TM. Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly,
and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision‐making After
the Diagnosis of a fetal Abnormality). Prenat Diagn 1999;19(9):808–12.
4. Marshall J, Tanner JP, Kozyr YA, Kirby RS. Services and supports for young children with Down syndrome: parent and provider
perspectives: Services and supports for young children with Down syndrome. Child : care, health & development. 2015;41(3):365-
373. doi:10.1111/cch.12162
5. https://www.downsyndromeprenataltesting.com/fact-sheet-for-the-down-syndrome-information-act/
6. Muggli EE, Collins VR, Marraffa C. Going down a different road: first support and information needs of families with a baby
with Down syndrome. Medical journal of Australia. 2009;190(2):58-61. doi:10.5694/j.1326-5377.2009.tb02275.x
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