MATERNAL AT RISK LEC

• Assessment

  1. Obtain detailed family history preferably for three generations

  2. Physical assessment of both parents and any affected children

  3. Series of laboratory assays including blood, amniotic fluid, and maternal and fetal cells
• 1st trimester of Pregnancy

  1. Routine sonogram screening (a nuchal translucency scan)

  2. Analysis of maternal serum levels of Alpha fetoprotein A (PAPP-A)

  3. Free beta hCG to evaluate for chromosomal disorders in the fetus
• Nuchal translucency scan

  1. Ultrasound that may detect the risk of chromosomal abnormalities

  2. Part of the ultrasound scan that most pregnant women have at around 12 weeks of pregnancy
• Alpha fetoprotein A (PAPP-A)

  • Tests measure the amounts of beta human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) in the blood
  • PAPP-A level more than or equal to 0.5 MOM is considered normal, while levels less than 0.5 MOM are marked as low
• Chromosomes

  Threadlike structures of nucleic acids in the nucleus of most living cells, carrying genetic information in the form of genes
• Genetic Disorders

  • Disorders that can be passed from one generation to the next due to disorders in the gene or chromosome structure
  • Occur at the moment of fertilization or even earlier during mitotic division when the chromosome count is halved from 46 to 23
• Cytogenetics

  Study of chromosomes by light microscopy and the method by which chromosomal aberrations are identified
• Genes

  • Basic units of heredity that determine physical and cognitive characteristics of individuals
  • Composed of segments of DNA woven into strands in the nucleus of all body cells to form chromosomes
• Phenotype

  Outward appearance or expression of genes in an individual
• Genotype

  Actual gene composition of an individual
• Normal Female and Male Karyotype

  • 46XX
  • 46XY
• Genetic Counseling and Testing

  1. Advantages for an individual concerned with transmitting a disease to ask for genetic counseling at a preconception health visit

  2. Counseling can provide concrete, accurate information about the process of inheritance and inherited disorders, reassure concerned individuals, allow informed choices about future reproduction, pursue potential interventions, and begin preparation for a child with special needs
• Ideal time for discussing the possibility of a genetic disorder is before a first pregnancy at a preconception health visit
• Nurses

  Play important roles in assessing for signs and symptoms of genetic disorders, offering support to individuals seeking genetic counseling, and helping with reproductive genetic testing procedures
• A fitting support is needed for a grieving couple confronted with the reality of how tragically the laws of inheritance have affected their lives
• It is never appropriate for a health care provider to impose their own values or opinions on others
• Individuals with known inherited diseases in their family must face difficult decisions such as how much genetic testing to undergo or whether to terminate a pregnancy that will result in a child with a specific genetic disease
• Assessment for genetic disorders

  Genetic assessment begins with a careful study of the patterns of inheritance in the family, followed by history, physical examination, and laboratory analysis such as karyotyping or DNA analysis to define the extent of the problem and chance of inheritance
• Huntington’s Disease is a neurodegenerative disorder that causes the progressive breakdown of nerve cells in the brain, especially damaging the basal ganglia
• Huntington’s Disease

  • Has a broad impact on a person’s functional abilities, usually resulting in movement, thinking, and psychiatric disorders
  • Most people develop signs and symptoms in their 30s or 40s, but the onset may be earlier or later
  • When disease onset begins before age 20, it is called juvenile Huntington’s Disease
  • Causes movement, cognitive, and psychiatric disorders with a wide spectrum of signs and symptoms
• Huntington’s Disease - Movement Disorder

  • Includes involuntary and impairments in voluntary movement, involuntary jerking or writhing movement, muscle problems such as rigidity or dystonia, slow or abnormal eye movements, impaired gait, posture, and balance
• Huntington’s Disease - Treatments and Drugs

  No treatments can alter the course of HD, collaborative goals focus on reducing symptoms, preventing complications, and providing support and assistance to the patient and significant others
• Usher’s Syndrome - Different Types

  • Usher Type 1 - Deafness at birth, visual impairment in childhood
  • Usher Type 2 - Severe hearing loss, developing degeneration of the retina
  • Usher Type 3 - Worsening hearing loss with late-onset visual impairment
• Symptoms of Usher syndrome

  • Hearing Loss
  • Vision Loss
  • Balance Problems
• Diagnosis of Usher syndrome

  1. Hearing tests

  2. Vision tests

  3. Genetic tests
• Management Treatment for Usher syndrome

  • Hearing aids
  • Cochlear implants
  • Vision aids
  • Vitamin A supplements
• Symptoms of Wilson Disease

  • Fatigue
  • Loss of appetite
  • Jaundice
  • Golden brown rings around the irises of the eyes (Kayser-Fleischer rings)
  • Fluid buildup in the legs or stomach area
  • Problems with speech, swallowing, or physical coordination
  • Depression
  • Insomnia
  • Muscle stiffness
• Diagnostic Tests for Wilson Disease

  1. Blood & Urine Test

  2. Eye exam

  3. Liver biopsy

  4. Genetic testing
• Treatment for Wilson Disease

  1. Medicines that remove copper from the body

  2. Zinc supplements

  3. Low copper diet
• Causes of Gaucher's Disease

  • An inherited lysosomal storage disorder caused by the GBA gene (beta-glucocerebrosidase)
• Effects of Gaucher's Disease

  • Build-up of fatty substances in bone marrow, liver, and spleen
  • Weakening of bones and enlargement of organs
• Type 1 Gaucher's Disease

  • Affects the spleen, liver, blood, and bones
  • Treatable but no cure
• Effects of fatty substances building up in the body

  • Build up in bone marrow, liver, spleen
  • Weaken bones and enlarge organs
• Type 1 Gaucher Disease affects
• Type 1 Gaucher Disease is treatable, but there's no cure
• Signs and Symptoms of Gaucher Disease

  • Anemia
  • Fatigue
  • Leukopenia
  • Physical deformity
  • Avascular necrosis
  • Osteoporosis
  • Thrombocytopenia (bleeding, severe bruising)
• Type 2 Gaucher Disease is also known as Acute Neuronopathic Gaucher Disease
• Type 2 Gaucher Disease affects babies by age 3 to 6 months and is fatal
• Signs and Symptoms of Type 2 Gaucher Disease

  • Loss of motor skills
  • Decreased muscle tone
  • Muscle spasms
  • Trouble swallowing
• Type 3 Gaucher Disease is also known as Chronic Neuronopathic Gaucher Disease