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30,000 genes in the human genome (organism’s complete set of DNA) 46 chromosomes; 22 homologous pairs of chromosomes and one pair of sex chromosomes recessive genetic disorders sickle cell anemia, cystic fibrosis, thalassemia, Tay-Sachs disease $17.99
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30,000 genes in the human genome (organism’s complete set of DNA) 46 chromosomes; 22 homologous pairs of chromosomes and one pair of sex chromosomes recessive genetic disorders sickle cell anemia, cystic fibrosis, thalassemia, Tay-Sachs disease
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Course
Nursing
Institution
Nursing
30,000 genes in the human genome (organism’s complete set of DNA)
46 chromosomes; 22 homologous pairs of chromosomes and one pair of sex chromosomes
recessive genetic disorders sickle cell anemia, cystic fibrosis, thalassemia, Tay-Sachs disease
carrier testing identi...
Genetics, Conception, Fetal Development, and Reproductive Technology
Genetics study of heredity
Genomics addresses all genes and their interrelationships in order to identify their combined influence on growth
anddevelopment of the
organism Providing better methods for preventing disease and abnormalities, diagnosing diseases, predicting
health risks, treatment
personalizing
plans
o
30,000 genes in the human genome (organism’s complete set of DNA)
46 chromosomes; 22 homologous pairs of chromosomes and one pair of sex chromosomes
genotype person’s genetic makeup
phenotype how genes are outwardly expressed (eye color, hair color, height)
recessive genetic disorders sickle cell anemia, cystic fibrosis, thalassemia, Tay-Sachs disease
carrier testing identify individuals who carry one copy of a gene mutation that, when present in two
copies causes a genetic disorder; used when there is a family history of genetic disorder
preimplantation testing/preimplantation genetic diagnosis used to detect genetic changes in embryos
that are created using assisted reproductive techniques
prenatal testing early detection of genetic disorders
risks for conceiving child with genetic disorder maternal age older than 35, man/woman who has
genetic disorder; family history of genetic disorder, history of previous pregnancy resulting in a
genetic disorder or newborn
abnormalities
refer to support group whether they wish to terminate/continue with pregnancy
sickle cell anemia
o most common of African ancestry
o sickle-cell hemoglobin forms rigid crystals that distort and disrupt RBCs; oxygen-carrying
capacity of blood is diminished
cystic fibrosis
o most common genetic disease of European ancestry
o production of thick mucus clogs in bronchial tree and pancreatic ducts
o most severe effects are chronic respiratory infections and pulmonary failure
Tay-Sach disease
, OB-STUDY GUIDE GENETICS, CONCEPTION, FETAL DEVELOPMENT, AND
o Most common among Jewish ancestry
o Degeneration of neurons and nervous system results in death by the 2 years old
PKU
o Lack of enzyme to metabolize the amino acid phenylalanine leads to severe mental and physical
o Effects may be prevented by use of a diet at beginning of birth that limits
retardation
Huntington’s Disease
o Uncontrollable muscle contractions between 30-50 years followed by memory loss and personality
o No treatment that can delay mental deterioration
Hemophilia (X-linked)
o Lack of factor 8
o Can be controlled with factor 8 from donated blood
Duchenne’s Musclular Dystrophy
o Replacement of muscle by adipose or scare tissue with progressive loss of muscle function; often
fatal before age 20 due to involvement of cardiac muscle
teratogens any drugs, viruses, infections, or other exposures that can cause embryonic/fetal
developmental abnormality
degree or types of malformation vary on length of exposure, amount of exposure, and when it occurs
during human is
developing development
most vulnerable to effects of teratogens within first 8 weeks of gestation (organogenesis) can
cause gross structural defects
exposure after 13 weeks may cause fetal growth restriction or reduction of organ size
toxoplasma is a protozoan parasite found in cat feces and uncooked/rare beef and lamb
o can cause fetal demise, mental retardation, blindness when fetus is exposed
o avoid contact with cat feces and eating rare beef or lamb if pregnant or
rubella increased risk for heart defects, deafness and/or blindness, mental retardation, fetal demise
cytomegalovirus increased risk for hydrocephaly, microcephaly, cerebral calcification, mental retardation,
hearing loss
, OB-STUDY GUIDE GENETICS, CONCEPTION, FETAL DEVELOPMENT, AND
G/P System
o Gravida: # times a woman has been pregnancy including current pregnancy
o Para: # of births after 20 weeks’ gestation whether live or stillbirths
o Abortions are not accounted for in this system
GTPAL
o G: # times pregnancy
o T: # of term infants born after 37 weeks
o P: # of preterm infants between 20 and 37 weeks
o A: # of abortions either spontaneous or induced before 20 weeks
o L: # of living children
Nulligravida: woman who has never been pregnant or given birth
Primigravida: woman who is pregnant for the first time
Multigravida: someone who is pregnant for at least the second time
Prenatal period entire time period during which a woman is pregnant through birth of baby
Nurse places emphasis on health education and health promotion
Family-centered maternity care is a model of obstetrical care based on a view of pregnancy and childbirth
as a normal
Low-risk life event,
population a life have
should transition that is not14-16
approximately primarily medical
prenatal visits but
per rather developmental
First trimester
o Woman learns frequency of follow-up visits and what to expect from pregnancy visits as
pregnancy progresses during initial visit
o Comprehensive health and risk assessment; currently pregnancy history; complete physical and
o pelvic
Fetal examination;
heart nutrition assessment;
tones are auscultated psychosocial
with US Doppler, assessment;
initially by 10 and 12 assessment
weeks for intimate partner
o At end of first trimester, fetus is 3 inches in length and weights 1-2 ounces, all organ systems are present
violence
o Assessment of uterine growth after 10-12 weeks is measured by height of fundus with centimeter
measuring tape; zero point of tape is placed on the symphysis pubis and tape is extended to top of
fundus; MEASUREMENT SHOULD EQUAL # OF WEEKS PREGNANT
o Certain types of fish (king mackerel, shark, swordfish, tilefish) should be avoided due to
Second
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