This guide includes all content that is important to understand in each chapter. A comprehensive level
of understanding will ensure your success. For more focused guidance: If something is
bolded/underlined, then it’s probably going to be on your exam. All page numbers refer to Durham
3rd ed.
Chapter 3
Genetics
o Associated terminology/definitions and classifications (genotype vs phenotype)
→ genotype – genes, genes of mom straight hair and dad curly hair
→ phenotype – curly hair (expressed, observable), tall, green eyes
o Genetic counseling- role of the nurse
→ offer support
→ assess risk factors for genetic disorders
→ assist in value clarification
→ educate on procedures and tests
o Genetically linked disorders and associated ethnic backgrounds
● Sickle-Cell Anemia à African American ancestry
● Cystic Fibrosis → European ancestry
● Tay-Sachs Disease → Jewish ancestry
● Phenylketonuria → lack of an enzyme to metabolize the amino acids phenylalanine leads to severe mental and
physical retardation.
● Huntington’s Disease → uncontrollable muscle contractions b/w the ages of 30 and 50 y.o.
● Hemophilia (X-linked) → lack of factor VIII impairs chemical clotting
● Duchenne’s Muscular Dystrophy (X-linked) → replacement of muscle by adipose or scar tissue.
o Fetal alcohol syndrome
§ Causes? Fetal characteristics?
Fetal characteristics
● Small eyes, flat midface, smooth philtrum, thin upper lip, eyes with wide spaced, strabismus,
ptosis, poor suck, small teeth, cleft lip or palate, microcephaly
● Developmental delays, sleep disturbances, heart defects, tetralogy of fallot
● Withdrawal: jitteriness, irritability, increased tone and reflex response, seizures
● Causes: intake of alcohol while pregnant (chronic or periodic intake)
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2
o TORCH
§ Look at each and understand the mode of transmission, is there treatment for it? Do we screen for
it during prenatal care? How might it affect the pregnancy and baby?
● T: Toxoplasmosis, increased risk for fetal demise, blindness, mental retardation
● O: Other (Hep B)
● R: Rubella (German measles), increased risk for heart defects, deafness and/or blindness,
mental retardation, fetal demise
● C: Cytomegalovirus (CMV), increased risk for hydrocephaly, microcephaly, cerebral
calcification, mental retardation, hearing loss
● H: Herpes Simplex virus (HSV), increased risk for hypoplasia of hands and feet,
blindness/cataracts, mental retardation
§ What about viruses and placenta?
● Viruses such as rubella and cytomegalovirus can cross the placental membrane and enter the
fetal system, potentially causing fetal death or defects
● NO MMR vaccine during pregnancy
§ How long is zika in male system for? What can zika lead to in newborn who is affected by it?
Consists of two cycles working simultaneously (ovarian and endometrial) what are levels and roles of
estrogen and *progesterone in each cycle
*ovarian hormones – maintain endometrium, provide nutrition, aid in implantation, decrease uterine
contractility, initiate breast ductal system development
o Where each hormone is released from in the body?
-LH and FSH (follicle stimulating hormone)
o Know the role and function of the corpus luteum (think hormones)
-makes estrogen and progesterone (to prepare uterus for fertilization also to inhibit LH and
FSH from maturing eggs)
Conception - when a sperm nucleus enters the nucleus of the oocyte
o Where does fertilization occur?
-fallopian tubes (ovum released to the peritoneal cavity then swept by the fimbriae towards the
fallopian tubes.
-fertilization occurs – CL stays in place -> embryo releases HCG (human chorionic
gonadotropin) which prevents CL from dying
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