Week 5 Chapter 49 Flashcards
Study of genes. Genetic variation and heredity.
Genetics
Caused by completely or partially altered genetic material
Genetic Disorder
More common in relatives of the affected individual but may be caused by environmental influences not genetic alterations
Familial Disorder
The nurse is in an ideal position to help families to review what has been discussed during genetic counseling session, to answer additional questions they might have, and to provide emotional support for the family during this time
True
Advantages of Genetic Counseling
Provides relevant information to families about specific disorders
Personalized information to tailored individual
Review the results of genetic testing to confirm, diagnose, or rule out genetic abnormalities
Identify medical management issues and support families in identifying local resources
Provide resources and education to other healthcare providers and general public
Prenatal testing allows families opportunity to prepare for special needs of unborn child and consider options for future pregnancies
Significant Findings in Medical History of a Child with a Genetic Disorder
Maternal Age more than 35 years or paternal age more than 50 years of age
Repeated premature births, breech delivery
Congenital Hip Dysplasia
Abnormalities found on ultrasounds in prenatal blood screening tests
Amniotic Fluid abnormalities
Multiple Births
Exposure to Medications and known teratogens
Decreased Fetal Movement
Many children with chromosomal abnormalities have what?
Intellectual disability, learning disabilities, behavioral problems, and distinct features, including birth defects.
Variety of medications to treat, but no cure
Common Disorders Influenced By Birth Defects
Birth Defects
Chromosomal Abnormalities
Neurocutaneous Disorders
Intellectual Disorders
Short Stature Disorders
Connective Tissue Disorders
Inborn errors of metabolism
HPI includes
Developmental delay
Seizures
hypotonia or hypertonia
Feeding problems
Lethargy
Failure to thrive
Septic Appearance
Vomiting
Children known to have a genetic disorder are often admitted to the hospital for other health related issues or complications
Examples of Major Congenital Anomalies
Cleft Lip/ Palate
Congenital Heart Disease
Neural Tube Defects
Chromosomal Abnormalities
Omphalocele/ Gastroschisis
Renal agenesis/ hypoplasia
Absent or limb deficiencies
Generalized dysmorphism
Ambiguous Genitalia
Examples of Minor Congenital Anomalies
Flat or prominent occiput
Triple hair whorl
Flat bridged nose
Nostril anteverted
Ear Lobe crease
Ear lob notched
Cup shaped ears
Small ears
Cleft Uvula
Webbed Neck
Short Neck
Extra Nipples
Sacral Dimple
Tapered fingers
Overlapping Digits
Syndactyly
Hemangioma
Nevi
Common genital malformations such as cleft palate, neural tube defects, pyloric stenosis, clubfoot, congenital hip dysplasia, and cardiac defects are attributed to multifactorial inheritance
Multiple gene and environmental factors
Common Congenital Malformations
Amniotic Fluid Sampling
Amniocentesis
Tissue Sampling
Chorionic Villi Sampling
Triple/ Quadruple Screen
Maternal Serum Lab Test
Fetal Nuchal Translucency
at 11-13 weeks
Ultrasound
Fetal looking structural malformations
Cell Free Fetal DNA Testing
Maternal Blood Sample
Percutaneous Umbilical Blood Sampling
Umbilical Cord Sampling
Fetoscopy
After 18 weeks scope placed into the uterus and can be used for corrective surgery on fetus
Newborn Screening
Blood screening after birth
Patterns of inheritance demonstrate how genetic abnormalities can be passed to the offspring
True
Principles of inheritance of single gene disorders are the same that govern inheritance of other traits such as eye and hair color
Medlian or Monogenic Laws of Inheritance
Patterns occur because single gene is defective and the disorders that result referred as monogenic
True
If occurs on the autosome then it is
Autosomal
If X chromosome then it is X linked
Classified as dominant or recessive
Monogenic Disorders include
Autosomal Dominant
Autosomal Recessive
X linked Dominant
X linked Recessive
Offspring of a parent with an autosomal dominant genetic disorder will have a 50% chance of inheriting two normal genes (disorder free) and a 50% chance of inheriting one normal and one abnormal gene
True
Autosomal Dominant Genetic Disorders
Neurofibromatosis
Huntington Disease
Achondroplasia
Marfan Syndrome
Osteogenesis Imperfecta Type 1
Causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities
Due to a mutation of the neurofibromin gene on chromosome 17
No Cure
Neurofibromatosis
Nursing Management is supportive and controlling symptoms
Neurofibromatosis
Complications include:
Headache
Hydrocephalus
Scoliosis
Cardiac Defects
Vision and Hearing Loss
Higher risk for neoplasms
