Communicating A Prenatal Or Postnatal Diagnosis Of Down Syndrome
Publication Date: May 1, 2011
Last Updated: March 14, 2022
Recommendations for delivering a diagnosis of Down syndrome
Tell the parents about the diagnosis as soon as possible, even if the diagnosis is suspected but not yet confirmed. If the diagnosis has not been confirmed by karyotype, explain what physical features or medical concerns are suggestive of the diagnosis.
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Ideally, the diagnosis should be delivered in person, by a healthcare professional with sufficient knowledge of the condition. Healthcare providers should coordinate the message to ensure consistency in the information provided to the family.
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Whenever possible, meet with both parents together, or arrange a telephone call at a time when both partners will be present. If only the mother is available, ask to make arrangements to speak with her partner at a later time. If an initial face‐to‐face visit is not possible, the couple should be offered an office visit as soon as possible. The plan for discussing results should be agreed upon between patient and counselor during the pretest counseling session.
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The family should be informed of the diagnosis in their preferred language. If possible, a professional medical interpreter should be present at the time of disclosure.
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Discuss the diagnosis in a private, comfortable setting, free from interruptions. Allow time for questions and make plans for a follow‐up conversation.
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Parents should be provided with accurate and up‐to‐date information. Information should be given with a balanced perspective, including both positive aspects and challenges related to Down syndrome.
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Provide the information in a sensitive and caring, yet confident and straightforward manner, using understandable language that is clear and concise.
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Use neutral language and avoid using value judgments when starting the conversation, such as “I'm sorry” or “Unfortunately, I have bad news.”
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Use sensitive language and avoid outdated or offensive terminology. In the newborn setting, the baby should be present, and should be referred to by name. Use person‐centric language, emphasizing that this is a baby who has Down syndrome, rather than a “Downs baby” or a “Down syndrome child.”
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Allow time for silence and time for tears. Do not feel that you need to talk to “fill the silence.” Offer the family time alone.
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Assess the emotional reactions of the parents, and validate these feelings. Use active listening and empathic responses to support the parents.
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Informational resources should be provided, including contact information for local and national support groups, up‐to‐date printed information or fact sheets, and books. The opportunity to meet with families who are raising a child with Down syndrome, those who have chosen to create an adoption plan, and/or those who have terminated a pregnancy should be offered. When appropriate, referrals to other specialists may also be helpful (e.g., medical geneticists, genetic counselors, cardiologists, neonatologists, etc.).
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Title
Communicating A Prenatal Or Postnatal Diagnosis Of Down Syndrome
Authoring Organization
National Society of Genetic Counselors
Publication Month/Year
May 1, 2011
Last Updated Month/Year
January 8, 2024
External Publication Status
Published
Country of Publication
US
Document Objectives
Down syndrome is one of the most common conditions a genetic counselor is likely to encounter in the genetics clinic. Given the improved outlook for individuals with Down syndrome, it is crucial that genetic counselors and other healthcare providers are aware of the key elements in communicating this diagnosis to ensure that families receive up‐to‐date and balanced information, delivered in a supportive and respectful manner. This guideline serves to 1) summarize the various etiologies of Down syndrome and the associated recurrence risks; 2) review the key components of disclosing a diagnosis of Down syndrome in both the prenatal and the postnatal settings; and 3) provide references for both professional and patient resources.
Target Patient Population
Pregnant patients
Inclusion Criteria
Female, Adult
Health Care Settings
Ambulatory, Hospital, Laboratory services, Outpatient
Intended Users
Nurse, nurse practitioner, physician, physician assistant
Scope
Counseling, Assessment and screening, Diagnosis
Diseases/Conditions (MeSH)
D011247 - Pregnancy, D005820 - Genetic Testing, D005817 - Genetic Counseling, D011295 - Prenatal Care, D011296 - Prenatal Diagnosis, D004314 - Down Syndrome, D011181 - Postnatal Care
Keywords
genetic testing, genetic counseling, prenatal care, prenatal diagnosis, Down syndrome, postnatal care