Week 1
CHAPTER 3
-DNA is a biomolecule that holds the blueprint for how living organism are built
-Gene is a segment of the DNA 23 pairs of chromosomes
-Genetic component of male and female counterpart has gametes
o Dominant + Recessive = Dominant
- Autosomal dominant – the affected person has an affected parent
oIf you have Huntington disease – parent has that disease 50% chance
- Autosomal recessive – clinically normal parents
oFrom appearance – no disorder but have 25% chance that baby has it
- Recessive disorder are not getting passed on by generation to generation
o Smaller chance of finding a partner to have the baby with that disorder (25%)
-Important to ask mom and dad about the genetic disorder in the family
- 5 common things to ask patient
oSickle cell anemia R – black people more often – distorts and disrupt RBC
oCystic fibrosis R – most common European – thick mucus clogs
oTay-Sachs Disease R – Jewish – degeneration of neurons and NVS
oThalassemia R – inherited blood disorder
oHuntington’s Disease D – inherited disease which nerve cells in the
brain break down over time
oPhenylketonuria (PKU) R – lack of an enzyme to metabolize amino acid
and phenylalanine leads to physical retardation – prevent by the use of a
diet
-Most genetic disorders are recessive because it’s not passed onto next generation
- Maternal age and chromosome
oAge <35 or older
oHigher risk of having a baby with chromosomal abnormalities
▪Down syndrome
▪Deletion syndrome – deleted chromosome
▪Translocation
(miscarriage) o Diabetes
(Gestation diabetes) o
Hypertension (preeclampsia)
oFetal growth restriction and pre term birth
- Patient teaching for woman over 39
oIncrease consumption of Folic acid – prenatal vitamin
oScreening for past medical history
oFollow up appointment
oGenetics SEND PATIENT DIRECTLY TO GENETIC
COUNSELING/TESTING
-Nursing responsibilities
oObtain thorough and complete medical history
oAssess for signs and symptoms of genetic disorders
oOffer support
oAssist in clarification
