Patho 2 FINAL

• Autosomal dominant (Aa)


  50% chance of transmission
• Autosomal dominant disorders


  • Marfan syndrome: change in skeleton, eyes, cardiovascular system (very tall)
  • Huntington's disease
• Autosomal recessive (aa)


  Both members of the gene are affected
• Autosomal recessive (Aa)


  Carry the gene but won't have the disease (50% chance)
• Autosomal recessive disorders


  • Cystic fibrosis
  • Sickle cell
  • PKU: Toxic levels of phenylalanine accumulate because phenylalanine hydroxylase isn't breaking down
• 1. linked recessive (sex)


  • Females are carriers, and males are affected
  • Affected male transmits to 100% of daughters
• 1. linked recessive disorder


  • Hemophilia A
• Multifactorial disorders


  Caused by multiple genes and environmental factors
• Multifactorial disorders


  • Cleft lip and palate
  • Clubfoot
  • Congenital heart diseases
• Cleft lip and palate


  1. Originates at about 35th-day gestation

  2. Surgical closure of lip by 3 months, palate by 1 year

  3. Affect palate, lips, nose, nasal septum, and tooth socket

  4. Feeding difficulty d/t ineffective suctioning, speech difficulty
• Chromosomal disorders


  • Trisomy 21 (Down syndrome)
  • Monosomy X (Turner syndrome)
  • Polysomy X (Klinefelter syndrome)
• Teratogenic agents


  • Radiation
  • Chemicals
  • Alcohol
  • Infections
• Neural tube defects


  Folic acid deficiency, take 0.4 mg of folic acid daily
• Neural tube defects


  • Spina bifida
  • Meningocele: protrusion of a saclike cyst that contains meninges and spinal fluid
  • Myelomeningocele: protrusion of a saclike cyst that contains meninges and spinal fluid AND spinal cord with nerves
• Cerebral palsy


  • Insult of no oxygen to the developing brain of fetus/baby
  • Suspected between ages 18 months-2 years
  • Characterized by high muscle tone and stiffness
• Chorion


  Outermost membrane, can be used for early genetic testing
• Amnion


  Contains amniotic fluid, and forms the fluid-filled amniotic sac
• Amniotic fluid functions


  • Cushions the embryo, freedom of movement, the umbilical cord is free of compression, an extension of fetal extracellular space, wedge during labor
  • Helps control temp
  • External growth and development
  • Provides fluid for analysis
• Umbilical cord


  • Attaches to placenta
  • Artery: deoxygenated blood and waste products to placenta
  • Vein: oxygenated blood to the fetus
  • Wharton jelly surrounds blood vessels and prevents compression of cord
  • No sensory or motor intervention
• Placenta


  • Provides nutrient and metabolic exchange
  • Develops 3-20 weeks
  • Promotes fetal perfusion (placental circulation), provides oxygen for the fetus
• Cervix

  • "Mucus plug"
  • Estrogen stimulates hyperactivity of glandular tissue
  • Increased cervical vascularity
• Ovaries


  Corpus luteum secretes progesterone to maintain the endometrium of the placenta
• Vagina


  Thickened mucosa, increase in secretions, loosened connective tissues, increased blood flow
• Cardiovascular changes during pregnancy


  • Cardiac output increases (30-50%)
  • Blood volume increases (40-50%)
  • Plasma increases
  • RBC increases
  • Leukocytes/WBCS increases
  • Pulse increases
  • Hematocrit DECREASES (dilutional effect) can cause anemia
  • Blood pressure DECREASES – lowest during 2nd trimester
• Hormones during pregnancy


  • Anterior pituitary secretes FSH, LH, prolactin
  • Posterior pituitary secretes: oxytocin
  • Placenta secretes progesterone "Hormone of pregnancy"
• Progesterone


  • Maintains thickened endometrium
  • Relaxes smooth muscle in myometrium and thickens myometrium
  • Prepares breasts for lactation
  • Suppresses FSH and LH, stopping menstruation
  • Protects fetus from mother's immune system
• Onset of labor


  Usually between 37-42 weeks
• Myometrium activity


  1. Contractions shorten the muscles of the upper uterine segment

  2. Contractions stimulated by oxytocin

  3. Cervical dilation
• Oxytocin


  Potent uterine stimulant, positive feedback mechanism
• Signs of labor


  • Lightening: baby drops lower into the pelvis
  • Braxton hicks contractions
  • Cervical changes are the only true sign
  • Bloody show
  • Rupture of membranes
  • Urinary frequency and pain
• Cervical changes


  Ripening, softening, effacement 0-100%, dilation 1-10 cm
• 4 Ps


  • Passageway: birth canal, gynecoid
  • Passenger: fetus, cephalic-vertex
  • Position: how the baby is positioned, ischial spine is 0, -5 to +5 (closer to delivery), LOA/ROA is ideal (left occiput anterior)
  • Powers: how strong contractions are, bearing down/pushing
• Powers


  • Frequency: beginning of one contraction to the beginning of the next
  • Duration: how long
  • Intensity: how strong
• Stages of labor


  • 1st stage: When contractions start until end of dilation (10 cm)
  • 2nd stage: Begins with 10cm dilation, ends with birth of newborn
  • 3rd stage: begins after the delivery of newborn, and ends with the delivery of the placenta
• 1st stage of labor

  • Latent: 0-4 cm, Duration: 8-9 hours, Contractions occur every 10-30 to 5-7 mins, lasting 30-40 seconds
  • Active: 4-7 cm, Duration 1-4 hours, Contractions every 2-5 mins, lasting 40-60 seconds
  • Transition: 7-10 cm, Duration: 1-3 hours, Contractions every 1.5-2 mins, lasting 60-90 seconds
• Involution


  Uterus reduces in size and contracts
• Subinvolution


  Failure of uterus to contract or return to normal size
• Fundus


  1. Immediately after birth: midline, palpable and 2 cm below umbilicus

  2. 6-12 hrs after birth: rises to umbilicus or 1 cm above

  3. 25 hrs after birth: same size as 20 weeks pregnant

  4. Postpartum day 10: descends into pelvis and NO LONGER PALPABLE
• Lochia


  • Lochia rubra: dark red, day 1-3
  • Lochia serosa: pinkish, days 3-10
  • Lochia alba: creamy white/yellow, day 10-postpartum (6 weeks)
• Menstruation


  Returns in 6-10 weeks after birth if not breastfeeding, women can still get pregnant