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Use sensitive language and avoid outdated or offensive terminology.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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Recommendation Grading

Overview

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

Document Type

Guideline

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