Genetic Counseling about Down Syndrome
Genetic counseling is a communication process that incorporates education about genetic conditions with counseling to promote autonomy and adaptation to the diagnosis. Nondirectiveness is a central tenet, requiring the counselor to maintain a neutral stance in order to support and respect the patient's personal values and decisions. Facilitating informed decisions requires balance in the information provided. Genetic counselors should balance the negative aspects of Down syndrome, such as birth defects, medical complications, and developmental delay, with positive aspects like available treatments, therapies, and the ability for people with Down syndrome and their families to enjoy a high quality of life.
Delivering a Diagnosis of Down Syndrome
Many articles have published recommendations for informing parents of a new diagnosis of Down syndrome. Most studies are surveys of women who are asked to reflect on the way their healthcare providers delivered the diagnosis of Down syndrome. These recommendations provide examples of the ideal manner in which a new diagnosis of Down syndrome should be delivered. A summary of these recommendations is presented in the table below.
|Table. 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.
- 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.
- 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.
- 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.
- Discuss the diagnosis in a private, comfortable setting, free from interruptions. Allow time for questions and make plans for a follow-up conversation.
- 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.
- Provide the information in a sensitive and caring, yet confident and straightforward manner, using understandable language that is clear and concise.
- Use neutral language and avoid using value judgments when starting the conversation, such as "I'm sorry" or "Unfortunately, I have bad news".
- 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."
- 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.
- Assess the emotional reactions of the parents, and validate these feelings. Use active listening and empathic responses to support the parents.
- 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.).
Providing Information about Down Syndrome
The information provided about Down syndrome must be tailored to a family's knowledge base and emotional needs. Assessing the family's prior knowledge about Down syndrome and previous experiences with Down syndrome should be part of the conversation that continues from the initial counseling session as it may provide valuable insight and help guide the discussion. Healthcare providers should coordinate the message to ensure consistency in the information provided to the family.
The Prenatally and Postnatally Diagnosed Conditions Awareness Act of 2008 requires the availability of "up-to-date, evidence-based, written information concerning the range of outcomes for individuals living with the diagnosed condition…" as well as "contact information regarding support services…support groups, and other education and support programs…".
The amount of information provided at the initial consultation will depend on the parents' informational and emotional needs. Communicating a new diagnosis is not a discrete event, but a continuous one, requiring further contact and information provided at a later time. Therefore, genetic counselors and other members of the healthcare team should strive to address the family's immediate concerns and facilitate transition from the emotional first days post-diagnosis by providing information, access to resources, and caring support. Information about pregnancy termination, adoption or foster care should be provided to families who feel they cannot raise a child with special needs.
The table below summarizes the information that is essential to discuss with parents receiving either a prenatal diagnosis for their unborn child or a postnatal diagnosis for their newborn child. Parents and genetic counselors rated 100 clinical features, prognostications, and informational resources related to the condition to determine a bare minimum of informational content for the initial conversation. Diagnostic conversations should not be limited to this list of features.
|Table. Essential Information for the Initial Discussion of a Diagnosis of Down Syndrome
- Down syndrome (DS) is caused by extra genetic material from chromosome 21. DS may be suspected based on physical findings, but the diagnosis is confirmed by chromosome analysis.
- Individuals with DS have a variable range of intellectual disability from mild to moderate.
- Babies with DS have delays in achieving developmental milestones and benefit from early intervention including physical, occupational and speech therapy.
- 80% of babies with DS will have hypotonia.
- 50% of babies with DS have one or more congenital abnormality: 40% to 60% of babies with DS have a heart defect and 12% have a gastrointestinal defect that may require surgery. Assistance with referrals to specialists is appropriate for identified complications.
- Children with DS are more like other children than they are different.
- Raising a child with DS may involve more time commitment than typical children.
- Individuals with DS can participate in community sports, activities, and leagues.
- Individuals with DS can learn in a special education class or may be included in regular classes, and most can complete high school.
- Individuals with DS can be employed competitively or in a workshop setting.
- Individuals with DS can live independently or in a group home.
- Individuals with DS have friends and intimate relationships.
- Life expectancy extends into the 50s or 60s.
- Information on local support groups, advocacy organizations, early intervention centers, printed material, fact sheets, books, specialist referral(s) as needed, and the option to contact a family raising a child with DS should be offered.
- A personalized recurrence risk for future pregnancies should be offered.
Additional Counseling Issues in the Prenatal Setting
Pregnant women of all ages should be offered prenatal screening and diagnostic testing for Down syndrome. The primary goal of genetic counseling in the prenatal setting is to uphold patient autonomy regarding reproductive choices by providing personalized genetic information, exploring what the information means to the patient, explaining all options, and preparing the patient for the outcomes of their decision. Couples require balanced, accurate, and consistent information about alternatives and anticipated consequences from genetic counselors, before and after diagnostic testing, in order to facilitate informed decision-making about their pregnancies. Information should be nondirective and sufficient in content, provided in an unbiased, sensitive, and nonjudgmental manner.
The initial discussion should include not only common health concerns, but also treatments and therapies that are available. Any known medical issues that would require immediate attention should be addressed, as well as anticipated pregnancy outcomes, such as miscarriage and stillbirth. The overall fetal loss rate for Down syndrome between a diagnosis by chorionic villus sampling and term is approximately 32%, and 25% between amniocentesis and term.
Each baby with Down syndrome is different and physical and cognitive development cannot be predicted prenatally. Provide a range of possible outcomes to illustrate what life is like for individuals with Down syndrome and their families. Specifically, discuss how having a child with Down syndrome might affect the family as a unit, the parents' relationship as a couple, and other present or future children. Families should be directed to local and national support groups for Down syndrome. Offer the opportunity to contact other families raising a child with Down syndrome, those who have chosen to create an adoption plan or ended a pregnancy with Down syndrome who are willing to share their experiences with the patient.
After evaluating the patient or couple's understanding of the diagnosis, let their feelings about having a child with Down syndrome dictate the conversation that follows regarding options for pregnancy management. In a neutral, nondirective, and nonjudgmental manner, discuss all available reproductive options, which include continuing the pregnancy and either raising the child or creating an adoption plan for the child, or terminating the pregnancy. Referrals to clergy, spiritual leaders, religious groups, and trusted community members may be helpful, especially if cross-cultural issues exist. Regardless of their decision, offer the parents unbiased support and direct them to appropriate resources. Once a decision has been articulated, consider documenting the couple's decision in the medical record to avoid subsequently revisiting the conversation about options for pregnancy management. See Table 5 in the original guideline document for additional discussion points.
Additional Counseling Issues in the Postnatal Setting
The primary goal of genetic counseling after the birth of a child with Down syndrome is to facilitate understanding and acceptance as well as to promote the parents' perceived personal control by explaining the scientific cause and exploring the parents' personal beliefs. New parents often experience a variety of emotions following an unexpected diagnosis of Down syndrome. In the first encounter, families may not need to know every medical detail and may be unable to digest much of the information provided. As in the prenatal setting, genetic counselors and other members of the healthcare team should remain cognizant of the parents' educational and psychological needs and tailor the discussion accordingly.
Congratulations are in order upon the successful delivery of a new baby; however, the demeanor of the medical professional should mirror the parents' current state of mind. Give the parents permission to grieve the loss of the child the family expected while reassuring them with the hope that they can be wonderful parents to this baby. Be empathic and address potential guilt issues. Compliment the parents on their baby and refer to the baby by name.
Genetic counselors should help families focus on what their child can do. Discuss the fact that each baby with Down syndrome is unique and should demonstrate characteristics inherited from both "mom" and "dad", but also, that people with Down syndrome are more like their typically developing peers than they are different. Medical complications do not usually dominate medical care, and that barring major medical issues (i.e., heart or gastrointestinal defects), caring for an infant with Down syndrome is not much different than caring for any other baby. Babies with Down syndrome need love and care like any other baby. A balanced perspective, with hope and encouragement, and discussion of positive aspects can promote parents' adaptation to the diagnosis.
Ensure awareness of anticipated medical problems and recommended therapies. Focus on the baby you are seeing and any known medical conditions that require immediate attention (i.e., hypotonia, feeding difficulties, heart defect, and referral for early intervention). Other co-morbidities that manifest beyond the pediatric period may be discussed at a later time unless parents are interested in discussing these health concerns immediately. For ongoing surveillance, discuss availability of a medical genetics or Down syndrome specialty clinic.
Families are often interested in how this child will affect the family unit, the parents' relationship as a couple, and other children in the family. While some families may struggle initially, others are able to adapt and can even thrive. Direct patients to local and national support groups, as well as other families raising a child with Down syndrome who are willing to share their experiences with the family. Assist with additional referrals as needed, including clergy, spiritual leaders, religious groups, and trusted community members if cross-cultural issues exist. Information regarding adoption or foster care should be provided if parents wish to explore these options.
These recommendations for communicating a diagnosis of Down syndrome provide an overview of the current literature and practical recommendations for delivering the diagnosis in a sensitive and supportive manner as well as providing accurate, up-to-date information. Disclosure is an ongoing rather than a discrete event, requiring thorough consideration of medical, psychosocial, and family circumstances. Routinely, genetic counselors are responsible for delivering a diagnosis of Down syndrome to new or expectant parents, and must serve as an educational and emotional resource. Genetic counselors have the expertise to provide accurate and relevant medical information, empathy, anticipatory guidance, and support materials as well as assist with appropriate referrals for their patients. Offering the opportunity to contact families who have experienced a similar situation can be invaluable. Informational resources for families and professionals are provided in Table 6 of the original guideline document.