Topic 7: genetic counselling Flashcards
What is the aim of genetic counseling?
To help individuals or families comprehend medical facts, appreciate heredity and individual risks, understand alternatives for dealing with risks, and choose a course of action in accordance with their risk, family goals, and ethical and religious standards.
What are the two aspects of genetic counseling?
Medical (assessment, diagnosis, treatment, management) and counseling (addressing grief, guilt, shame, anger, fear, adjustment).
Who are the members of the genetics team?
Medical geneticists, genetic counselors, nurses, dieticians, and other specialists.
What are some indications for referral to prenatal and periconceptional genetics?
Increased risk of fetal chromosome abnormality, abnormal ultrasound findings, teratogen exposure, family history of genetic disorders, and infertility.
What is Trisomy 21 and its common features?
Trisomy 21, also known as Down’s syndrome, includes hypotonia, characteristic dysmorphic features, congenital heart defects, Hirschsprung disease, duodenal atresia, and intellectual disability.
What is the role of genetic counseling in prenatal diagnosis?
Providing information, psychological counseling, helping with decisions, follow-up care, and referrals.
What are some common indications for pediatric genetics referrals?
Birth defects, dysmorphic features, metabolic diseases, chromosomal abnormalities, intellectual disability, developmental delay, ambiguous genitalia, unexplained hearing/visual loss, abnormal stature or growth pattern, and consanguinity.
What are some diseases seen in adult genetics?
Huntington’s disease, Alzheimer’s disease, psychiatric diseases, bleeding disorders, unusual dermatological findings, sudden cardiac death, and connective tissue disorders.
What is Marfan syndrome and its common features?
Marfan syndrome is an autosomal recessive disorder characterized by tall and thin stature, pectus excavatum, arachnodactyly, dilation of the aorta, and ectopia lentis.
What are some clues to cancer syndromes in cancer genetics?
Multiple family members with cancer, bilateral cancer, early onset, multiple primary cancers, and rare cancers.
What are the steps in the medical genetics evaluation?
Contracting, history taking, physical exam, risk assessment, diagnostic studies, counseling, and follow-up.
What are some challenges in medical genetics?
insurance and employment discrimination, inconclusive or negative results, testing of minors, false paternity, rapid field evolution, changing diagnoses, duty to recontact, evolving conditions during pregnancy, and patients not sharing results with family members.
what is genetic counselling?
A communication process dealing with the human problems associated with the occurrence, or the risk of occurrence, of a genetic disorder in a family.
what are some situations where there would be Increased risk fetal chromosome abnormality?
- Abnormal (positive) results of screening
- Previous child with a chromosome abnormality
what are some Abnormal findings on ultrasound that we can find?
- Markers for increased risk (soft markers) such as Nuchal translucency (increase amount of fluid is a marker of trisomy)
- Structural anomalies (clear sign) such as Cystic hygroma (abnormality in lymphatic system – can be a marker for trisomy or other syndromes)
- Neural tube defect (open neural tube along the spine where severity is measured by how high the defect is on the spine)
- Cub foot (not super serious but identifiable)
