Gestational Pathology

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jknell
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Gestational Pathology
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2013-03-19 15:06:31
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  1. Errors in Organ Morphogenesis
    • Agenesis
    • -absent organ due to absent primordial tissue

    • Aplasia
    • -absent organ despite present primordial tissue

    • Deformation
    • -extrinsic disruption
    • -occurs after the embryonic period

    • Hypoplasia
    • -incomplete organ development
    • -primordial tissue present

    • Malformation
    • -intrinsic disruption
    • -occurs during the embryonic periods (weeks 3-8)
  2. Craniopharyngioma
    • -benign Rathke's pouch tumor
    • -cholesterol crystals
    • -calcifications
  3. Mesodermal Defects
    • "VACTERL"
    • -Vertbral defects
    • -Anal atresia
    • -Cardiac defects
    • -Tracheo-Esophageal fistula
    • -Renal defects
    • -Limb defects (bone and muscle)
  4. Teratogens
    Most susceptible in weeks 3-8 of pregnancy (embryonic periods → organogenesis)

    Before week 3 → all or none effect

    After week 8 → growth and function affected

    • Medications:
    • -ACEIs
    • -Alkylating agents
    • -Aminoglycosides
    • -Carbamazepine
    • -DES
    • -Folate antagonists
    • -Lithium
    • -Phenytoin
    • -Tetracyclines
    • -Thalidomide
    • -Valproate
    • -Warfarin

    • Substances:
    • -Alcohol
    • -Cocaine
    • -Smoking (nicotine, CO)

    • Other:
    • -Iodide (lack or excess)
    • -Maternal Diabetes
    • -Vitamin A (excess)
    • -Xrays
  5. Teratogens: ACEI
    Renal damage
  6. Teratogens: Alkylating Agents
    • Absence of digits
    • Multiple anomalies
  7. Teratogens: Aminoglycosides
    CNVIII Toxicity

    "Aminoglycosides: A mean guy hit the baby in the ear"
  8. Teratogens: Carbamazepine
    • -Neural tube defects
    • -Craniofacial defects
    • -Fingernail hyperplasia
    • -Developmental delay
    • -IUGR
  9. Teratogens: Diethylstilbestrol (DES)
    • -Vaginal clear cell adenocarcinoma
    • -congenital Mullerian anomalies
  10. Teratogens: Folate Antagonists
    Neural tube defects
  11. Teratogens: Lithium
    Ebstein's anomaly (atrialized R ventricle)
  12. Teratogens: Phenytoin
    • Fetal hydantoin syndrome:
    • -microcephaly
    • -dysmorphic craniofacial features
    • -hypoplastic nails and distal phalanges
    • -cardiac defects
    • -IUGR
    • -mental retardation
  13. Teratogens: Tetracyclines
    Discolored teeth
  14. Teratogens: Thalidomide
    Limb defects ("flipper limbs")

    "Limb defects with "tha-limb-domide"
  15. Teratogens: Valproate
    Inhibition of maternal fetal absorption → Neural tube defects
  16. Teratogens: Warfarin
    • -Bone deformities
    • -Fetal hemorrhage
    • -Abortion
    • -Ophthalmologic abnormalities

    "Do not wage warfare on the baby, keep it heppy with heparin (does not cross the placenta)"
  17. Teratogens: Alcohol
    Leading cause of birth defects and mental retardation

    • Fetal Alcohol Syndrome
    • -mental retardation
    • -pre and postnatal developmental retardation
    • -microcephaly
    • -holoprosencephaly
    • -facial abnormalities
    • -limb dislocation
    • -heart and lung fistulas

  18. Teratogens: Cocaine
    Abnormal fetal development and fetal addiction

    Placental abruption
  19. Teratogens: Smoking
    Nicotine, CO

    • -Preterm labor
    • -placental problems
    • -IUGR
    • -ADHD
  20. Teratogens: Iodide (lack or excess)
    Congenital goiter or hypothyroidism (cretinism)
  21. Teratogens: Maternal Diabetes
    • Caudal regression syndrome
    • -anal atresia to sirenomelia

    • Congenital heart defects
    • Neural tube defects
  22. Teratogens: Vitamin A Excess
    • Extremely high risk for spontaneous abortions and birth defects
    • -cleft palate
    • -cardiac abnormalities
  23. Teratogens: Xrays
    • -Microcephaly
    • -Mental retardation
  24. Patent Urachus
    -urine discharge from umbilicus
  25. Vesicourachal diverticulum
    -outpouching of bladder
  26. Vitelline Fistula
    -meconium discharge from umbilicus
  27. Meckel's Diverticulum
    -partial closure of vitelline duct, with patent portion attached to ileum

    -may have ectopic gastric mucosa → melena, periumbilical pain, ulcer
  28. Treacher Collins Syndrome
    First branchial arch neural crest fails to migrate

    • Presentation:
    • -mandibular hypoplasia
    • -facial abnormalities
  29. Congenital Pharyngo-cutaneous Fistula
    Persistence of cleft and pouch from third branchial arch

    → fistula between tonsillar area, cleft in lateral neck
  30. DiGeorge Syndrome
    • Pathophysiology:
    • -aberrant development of 3rd and 4th pouches

    • Presentation:
    • -T cell deficiency (thymic aplasia)
    • -hypocalcemia (failure of parathyroid development)
  31. MEN2A
    • Pathophysiology:
    • -mutation of germline RET (neural crest cells)

    • Presentation:
    • -Pheochromocytoma (adrenal medulla)
    • -Parathyroid tumor (3rd/4th pharyngeal pouch)
    • -Medullary Thyroid Cancer (parafollicular cells: derived from neural crest cells, associated with 4th/5th pharyngeal pouches)
  32. Cleft Lip/Cleft Palate
    • Cleft Lip
    • -failure of fusion of the maxillary and medial nasal processes (formation of primary palate)

    • Cleft Palate:
    • -failure of fusion of the lateral palantine processes, the nasal septum and/or the median palatine process (formation of secondary palate)

    **Cleft lip and palate have two distinct etiologies but often occur together
  33. Bicornate Uterus
    -results from incomplete fusion of the paramesonephric ducts

    -can lead to urinary tract abnormalities and miscarriages
  34. Hypospadias
    • Epidemiology:
    • -more common than epispadias

    • Pathophysiology:
    • -Abnormal opening of penile urethra on inferior (ventral) side of penis
    • -Due to failure of urethral folds to close

    Fix hypospadias to prevent UTIs!

  35. Epispadias
    • Epidemiology:
    • -much more rare than hypospadias

    • Pathophysiology:
    • -opening of urethra on superior surface of penis
    • -due to abnormal positioning of the genital tubercle

    Exstrophy of the bladder is associated with Epispadias

    "When you have Epispadias, you hit your Eye when you pEE"
  36. Mittelschmerz
    Blood from rupture follicle or follicular enlargement causes peritoneal irritation that can mimic appendicitis
  37. Sex Chromosome Disorders
    • 1. Klinefelter's Syndrome
    • 2. Turner syndrome
    • 3. Double Y males
  38. Klinefelter's Syndrome
    • -Male
    • -XXY

    • Epidemiology:
    • -1:850

    • Clinical Presentation:
    • -testicular atrophy
    • -eunuchoid body shape
    • -tall
    • -long extremities
    • -gynecomastia
    • -female hair distribution
    • -presence of inactivated X chromosome (Barr body)
    • *may present with developmental delay (common cause of hypogonadism seen in infertility work up)

    • Hormones:
    • -Dysgenesis of seminiferous tubules → decreased inhibinincreased FSH
    • -Abnormal leydig cell function → decreased testosteroneincreased LHincreased estrogen
  39. Turner Syndrome
    • -Female
    • -XO

    • Epidemiology:
    • -most common cause of primary amenorrhea

    • Clinical Presentation:
    • -short stature (untx < 5 feet)
    • -ovarian dysgenesis (streak ovary)
    • -infertility
    • -shield chest
    • -bicuspid aortic valve
    • -webbing in neck (cystic hygroma) (due to defects in lymphatics)
    • -lymphedema in hands and feet (due to defects in lymphatics)
    • -preductal coarctation of the aorta
    • -horseshoe kidney
    • -dysgerminoma
    • -no Barr body

    Menopause before menarche

    • Hormones:
    • -decreased estrogenincreased LH and increased FSH

    "Hugs and Kisses (XO) from Tina Turner"
  40. Double Y Males
    • -male
    • -XYY

    • Epidemiology:
    • -1:1000

    • Clinical Presentation:
    • -phenotypically normal
    • -very tall
    • -severe acne
    • -antisocial behavior (seen in 1-2%)
    • -normal fertility
    • -small % diagnosed with autism spectrum disorders
  41. Diagnosing Sex Disorders
  42. Pseudohermaphroditism
    Disagreement between the phenotypic (external genitalia) and gonadal (testes vs ovaries) sex

    • Types:
    • 1.Female Pseudohermaphrodite
    • 2. Male pseudohermaphrodite
  43. Female Pseudohermaphrodite
    XX

    • Pathophysiology:
    • -excessive and inappropriate exposure to androgenic steroids during early gestation
    • -Eg: congenital adrenal hyperplasia, exogenous administration of androgens during pregnancy

    • Presentation:
    • -ovaries present
    • -external genitalia are virilized or ambiguous
  44. Male Pseudohermaphrodite
    XY

    • Pathophysiology:
    • -most common form is androgen insensitivity syndrome (testicular feminization)

    • Presentation:
    • -testes present
    • -external genitalia are female or ambiguous
  45. True Hermaphroditism
    46XX or 47XXY

    • Presentation:
    • -both ovary and testicle present (ovotestis)
    • -ambiguous genitalia

    VERY RARE
  46. Androgen Insensitivity Syndrome
    46XY

    • Pathophysiology:
    • -defect in androgen receptor

    • Presentation:
    • -normal appearing female
    • -female external genitalia with rudimentary vagina
    • -uterus and fallopian tubes generally absent
    • -scant sexual hair
    • -develop testes (often found in labia majora) → surgically removed to prevent malignancy

    • Hormones
    • -↑ Testosterone
    • -↑ LH
    • -↑ Estrogen
    • ** vs sex chromosome disorders
  47. 5α-Reductase Deficiency
    • Pathophysiology:
    • -autosomal recessive
    • -sex limited to genetic males
    • -inability to convert testosterone to DHT

    • Presentation:
    • -ambiguous genitalia until puberity
    • -at puberty increased testosterone causes masculinization and increased growth of external genitalia
    • -normal internal genitalia

    • Hormones:
    • -normal testosterone/estrogen
    • -normal/↑ LH
  48. Kallmann Syndrome
    • Pathophysiology:
    • -defective migration of GnRH cells and formation of olfactory bulb
    • -↓ synthesis of GnRH in the hypothalamus

    • Presentation:
    • -anosmia
    • -lack of secondary sexual characteristics

    • Hormones:
    • -↓ GnRH
    • -↓ FSH
    • -↓ LH
    • -↓ Testosterone
    • -decreased sperm count
  49. Hydatidiform Mole
    • Pathology:
    • -abnormal conception characterized by swollen and edematous villi with proliferation of trophoblasts
    • -may be complete or partial

    • Presentation:
    • -abnormal vaginal bleeding
    • -uterus enlarges like normal pregnancy, but larger than expected for gestational age
    • -β-hCG higher than expected from gestational age

    • -Second Trimester: passage of grape-like mass through vaginal canal
    • -First Trimester: dx by routine U/S, absent fetal heart sounds, "snowstorm" appearance

    • Complications:
    • -uterine rupture
    • -most common precursor of choriocarcinoma

    • Treatment:
    • -Dilation and curettage
    • -methotrexate
    • -monitor β-hCG
  50. Complete Mole
    • Pathophysiology:
    • -empty ovum fertilized by two sperm

    • Karyotype
    • -46XX, 46XY

    • hCG
    • -extremely elevated

    • Uterine Size
    • -increased

    • Fetal Parts
    • -no

    • Villous Edema
    • -most villi hydropic

    • Trophoblastic Proliferation
    • -diffuse, circumferential
    • -surrounds entire villi

    • Risk of Choriocarcinoma
    • -2%

    • Risk of Complications
    • -15-20% malignant trophoblastic disease
  51. Partial Mole
    • Pathophysiology
    • -normal ovum fertilized by two sperm

    • Karyotype
    • -69XXX, 69 XXY, 69 XYY

    • hCG
    • -slightly elevated

    • Uterine Size
    • -normal

    • Fetal Parts
    • -yes (partial = fetal parts)

    • Villous Edema
    • -some villi hydropic, some normal

    • Trophoblastic Proliferation
    • -focal proliferation around part of villi

    • Risk of Choriocarcinoma
    • -rare

    • Risk of Complications
    • -low risk of malignancy (<5%)
  52. Pre-eclampsia/Eclampsia
    • Preeclampsia
    • 1. HTN
    • 2. Proteinuria
    • 3. Edema

    • Eclampsia
    • -preeclampsia + seizures

    • Epidemiology:
    • -7% of pregnant women
    • -usually during third trimester (20 weeks gestation to 6 weeks postpartum)
    • **before 20 weeks suggests molar pregnancy
    • -increased incidence in patients with preexisting HTN, DM, CKD, autoimmune disorders

    • Pathophysiology:
    • -placental ischemia due to impaired vasodilation of spiral arteries
    • -increased vascular tone

    **can be associated with HELLP Syndrome

    • Clinical Features:
    • -HA
    • -blurred vision
    • -abdominal pain
    • -edema of face and extremities
    • -altered mentation
    • -hyperreflexia

    • Labs:
    • -thrombocytopenia
    • -hyperuricemia

    • Treatment:
    • -immediate delivery of placenta (eclampsia, HELLP)
    • -bed rest, monitoring, tx of HTN
    • -IV magnesium sulfate to prevent and tx seizures of eclampsia
  53. HELLP Syndrome
    • Pathophysiology:
    • -preeclampsia with thrombotic microangiopathy involving the liver
    • -platelet microthrombi cause hemolysis (schistocytes)

    • Hemolysis
    • Elevated Liver enzymes (due to infarct of LV tissue)
    • Low Platelets

    • Treatment:
    • -immediate delivery
  54. Placental Abruption
    • Risk Factors:
    • -smoking
    • -HTN
    • -cocaine use

    • Pathophysiology:
    • -premature detachment of placenta from decidua
    • -Abrupt detachment
    • -may be associated with DIC

    • Presentation:
    • -painful bleeding in third trimester
    • -fetal insufficiency

    • **life threatening for both fetus and mother
  55. Placenta accreta
    • Risk Factors:
    • -prior C-section
    • -inflammation
    • -placenta previa

    • Pathophysiology:
    • -defective decidua allows placenta to attach to myometrium
    • -no separation of placenta after birth
    • -massive bleeding after delivery

    • Treatment:
    • -often requires hysterectomy

    Accreta = "encased in" myometrium
  56. Placenta Previa
    • Risk Factors:
    • -multiparity
    • -prior C-section

    • Pathophysiology:
    • -attachment of placenta to lower uterine segment
    • -placental lies near or extends over cervical os

    • Presentation:
    • -painless bleeding in any trimester (Pathoma: third trimester)
  57. Retained Placental Tissue
    May cause postpartum hemorrhage

    Increased risk of infection
  58. Ectopic Pregnancy
    • Risk Factors:
    • -hx of infertility
    • -salpingitis (PID)
    • -ruptured appendix
    • -prior tubal surgery

    • Pathophysiology:
    • -implantation of fertilized ovum at site other than uterine wall
    • -most commonly fallopian tubes

    • Presentation:
    • -suspect w/ h/o amenorrhea
    • -Pain, with or without bleeding
    • -lower than expected hCG based on dates
    • -sudden lower abdominal pain
    • *often mistaken for appendicitis

    • Diagnosis:
    • -U/S
    • -Endometrial bx: decidualized endometrium but NO chorionic vili
  59. Amniotic Fluid Abnormalities
    • Polyhydramnios
    • Oligohydramnios
  60. Polyhydramnios
    >1.5 - 2L of amniotic fluid

    Associated with esophageal/duodenal atresia → causes inability to swallow amniotic fluid

    Associated with anencephaly
  61. Oligohydramnios
    <0.5L of amniotic fluid

    • Associated with:
    • -placental insufficiency
    • -bilateral renal agenesis
    • -posterior urethral valves (in males)

    Result in inability to excrete urine

    Can give rise to Potter's Syndrome
  62. Spontaneous Abortion
    Miscarriage of fetus occurring before 20 weeks gestation (usually during first trimester)

    • Epidemiology:
    • -common
    • -occurs in 1/4 recognizable pregnancies

    • Presentation:
    • -vaginal bleeding
    • -cramp-like pain
    • -passage of fetal tissue

    • Causes:
    • -most often due to chromosomal anomalies
    • -hypercoagulable state (lupus anticoagulant, APLS)
    • -congenital infection
    • -exposure to teratogens (esp during first two weeks)

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