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31 Cards in this Set

  • Front
  • Back
X-linked recessive disorders
*More common than X-linked dominant disorders
*Occur more frequently in males
*Female carrier
-50% chance of passing to offspring
Examples: hemophilia A, Duchenne muscular dystrophy
X-Linked Dominant
*Altered gene on X chromosome
*X-linked dominant in father
-None of sons will inherit the disorder
-All of daughters will inherit the disorder
*Female with X-linked dominant trait
-50% chance of passing trait to daughters
Nursing Priority for Genetic Testing
*Identify for referral
*Help woman decide about genetic counseling
*Teach about lifestyle
*Provide emotional support
*Help woman and family deal with abnormal results
Process of Fertilization
*Oocyte and sperm meet in fallopian tube
*Ovulation - cervical mucus changes
*200 sperm reach fertilization site
-Capacitation
-Penetrates zona pellucida - prevents fertilization by other sperm
Cleavage
Rapid cellular division
Morula
-Solid ball of cells
Blastocyst
-Inner mass of cells
Multifetal pregnancy - monozygotic
-Develop from one zygote; division occurs at end of first week
Dizygotic
Develops from two zygotes
-Separates amnion and chorions
Implantation
*Zygote propelled by
-Cilia
-Peristalsis
*Reaches uterine cavity in 3 to 4 days
*Nidation
-Occurs by 10th day after fertilization
-Implantation bleeding
-Blastocyst is buried beneath the endometrial surface
Placenta
*Develops from trophoblast cells
-Lucanae
-Chorionic villi
-Intervillous spaces
*Provides oxygenation, nutrition, waste elimination, and hormones
*Protects fetus
*Placental hormones
-Human chorionic gonadotrophin (hCG): tells corpus luteum to continue producing progesterone until placenta takes over
-Human placental lactogen (hPL)
-Progesteron: relaxation effect on smooth muscle; maintains pregnancy
-Estrogen: growth hormone, growth of number & size of cells'; prepares uterine muscles for labor
Amazing Placenta~ functions:
*Metabolic functions
-Glycogen, cholesterol, fatty acids
*Transfer functions
-Gas exchange
-Nutrient transfer
-Waste removal
-Antibody transfer
*Endocrine functions
-Hormones necessary to continue pregnancy
-Human placental lactogen, estrogens, progesterone
Substance Transport Across Placenta
*Diffusion
*Active transport
*Pinocytosis
*Bulk flow and solvent drag
*Accidental capillary breaks
*Independent movement
Development of the Embryo & Fetus - Yolk Sac
*Develops 8-9 days after conception
*Essential for transfer of nutrients during second and third weeks of gestation
*Hematopoiesis - RBCs develop here
*Atrophies and is incorporated into umbilical cord
Development of the Embryo & Fetus - Umbilical Cord
*Usual location - center of placenta
*55 cm long (21 inc) 1-2 cm diameter
*Vessels: one vein, two arteries
*Wharton's jelly: protects umbilical cord from compression
Pre-Embryonic Period
*First 2 weeks after conception
*Rapid cellular multiplication and differentiation
*Establishment of embryonic membranes and primary germ layers
-Ectoderm
-Endoderm
-Mesoderm
Embryonic Development
*Begins third week after fertilization through end of eigth week
*Organogenesis - formation & differentation of all organs
*Vulnerable to environemental insults
Progression of Development - Embryo
*Cephalo-caudal (head-to-toe)
*Central to peripheral
*Simple to complex
*General to specific
Embryonic Development
*3rd week: CNS, contractions of heart tube begin
*4th week: Neural tube closure, respiratory and GI tracts, upper limb buds; heart is beating
*6th week upper limbs, fingers webbed, ears & eyes forming, kidneys
*8th week eyelids fused; heart has 4 chambers, may hear beat with ultrasound
*9th week begins fetal period
Threats to Embryonic and Fetal Development
*Chromosomes and teratogens
*Medications and other substances
-Vitamins, alcohol, tobacco, caffeine, drugs, radiation, and lead
*TORCH infections
-Toxoplasmosis, hepatitis, rubella, cytomegalovirus, herpes
Nursing Role in Minimizing Threats to Embryonic and Fetal Development
*Assessment:
-Environmental and lifestyle risks
-Knowledge
-Physical and psychosocial well-being
*Preconception counseling
-Initial prenatal visit
-Assessment: cultural, emotional, physical, and physiological factors
-Education
-Genetic disorders
-Prental tests
Fetal Circulation
*Heart beings to beat and circulate blood by end of third week
*Umbilical vein: blood from placenta to fetus
*Low PO2 important to maintain fetal circulation
*Three unique shunts:
(1) Ductus venosus: bypasses liver and enters inferior vena cava
(2) Foramen ovale: right and left atria to supply blood to head, and upper and lower extremities
(3) Ducus arteriosus: returning blood bypasses lungs
Fetal membranes & Amniotic Fluid
*Amnion & chorion: Two separate membranes
-Amnion - inner membranes, contains amniotic fluid
-Chorion - outer membrane, forms fetal portion of placenta
*Slightly adherent, form amniotic sac
*Amniotic fluid - protects growing fetus
Purposes of Amniotic Fluid
*Protects and cushions fetus
*Maintains normal body temperature
*Symmetrical fetal growth
*Room and buoyancy for fetal movement
*Keeps membrane from sticking parts of fetus
*Stable temperature
*Essential for normal fetal lung development
*Amount: 800ml at 24 weeks
*Fetal urine and lung secretions primary contributors in late pregnancy; fluid from maternal blood transported across amnion
*Slightly alkaline
*Contains antibacterial, other protective substances
FDA Categories for Drugs in Pregnancy
*Categories A: controlled studies in humans - safest
*Category B: No fetal risk in animal studies
*Category C: Adverse effects found in animal studies; use only if benefit justifies possible risk to fetus
*Category D: positive evidence of fetal risk; benefits may outweigh risks; e.g. phenytoin
*Category X: Risks from drug outweigh any benefits
Fetal Period
*Beginning ninth week until birth or termination of pregnancy
*Rapid growth and differentiation of tissues, organs, and systems
*Less vulnerable stage
Milestones weeks 9-12
*Ossification centers appear
*Body growth increases
*Intestines leave umbilical cord, enter abdomen
*External genitalia differentiated by week 12
*Urine production begins
Weeks 13-16 milestones
*Movements stronger; some feel quickening
*Very rapid growth
*Coordinated movements of limbs
*Ossification of skeleton
*Face looks human
*Ovaries differentiated
Weeks 17-20 Milestones
*Growth slows
*Quickening
*Vernix Caseosa
*Lanugo
*By 20 weeks: fetus 300 g and 19cm (7.3 inc)
*Fluttering movements; quickening/fetal movement felt, languo, brown fat, FHT by fetoscope
WEeks 21-25
*Gains weight
*Skin pink
*Rapid eye movements
*Surfactant by 24 weeks
*Approaching viability thin, transluscent skin, beginning surfactant
Later Pregnancy Milestones in FEtal Development
*Weeks 25-28: head hair, SQ fat, eyes open 1000g (2.5#), increasing chance of survival
*Weeks 33-38: gaining weight, lungs maturing vernix and langugo recede, 2000-2500g (4-5 #), survival good
*Full term infant 36-40 weeks fertilization age or weeks 38-42 gestational age,
Average size: 3400g; 7.5 lbs