Communicating A Prenatal Or Postnatal Diagnosis Of Down Syndrome
Recommendations for delivering a diagnosis of Down syndrome
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