RLE Genetic Counseling

• Genes are the basic unit of heredity that determine physical and cognitive characteristics of people
• Genes are composed of segments of DNA and are woven into chromosomes in the nucleus of body cells
• In humans, each cell (except sperm and ovum) contains 46 chromosomes (44 autosomes and 2 sex chromosomes)
• Phenotype refers to outward appearance or expression of genes
• Genome is the complete set of genes present (46 XX or 46 XY)
• Genotype refers to actual gene composition
• Dominant and recessive patterns of inheritance are discovered and described by Gregor Mendel
• Mendelian laws permit the prediction of inheritance of traits such as eye color
• Dominant genes are dominant in their action over others when paired with other genes
• Recessive genes are not dominant
• Autosomal Dominant Disorders (ADD) cause structural defects and can be inherited in different ways
• Autosomal Recessive Disorders only occur when 2 genes for a disease are present
• Screening and Diagnostic Testing for genetic disorders
• Different tests include Nuchal translucency, Chorionic Villi Sampling, Amniocentesis, PUBS, Fetal anatomy ultrasound, Fetoscopy, and Newborn screening
• Candidates for referral for genetic testing or counseling
• Couples with a child with a congenital disorder or inborn error of metabolism
• Couples with close relatives who have a genetic disorder
• Individuals known carriers of a chromosomal disorder or inborn error of metabolism
• Consanguineous couples, older individuals, or those from ethnic backgrounds with known illnesses
• Participation in genetic screening must be elective with informed consent
• Results must be interpreted correctly and provided quickly
• Individuals should not be coerced into procedures like abortion or sterilization after counseling
• Alternatives include Alternative insemination by donor (AID), Surrogate embryo transfer, Surrogate mother, or Adoption
• Common Chromosomal Disorders Resulting in Physical or Cognitive Developmental issues