Flashcards in Fetal Pathology Deck (33)
What week gestation does the fetal period start?
9 wks and lasts until birth
What is the perinatal period?
3-5mo before birth and first week post birth
What is the neonatal period?
What is considered preterm?
Genetic defects count for how many % early preg loss
(early preg loss=<20wks gestation) answer: 50%, monosomy X is the most common
What is 45X syndrome?
-Most common chromosomal aberration in early preg loss
-Small stature, gonadal dysgenesis, adolescent presentation due to delayed menarche
-Comes with horseshoe kidney, bicuspid aortic valve and coarctation of aorta
-Detect prenatally with cystic hygroma +/- hydrops (fetal edema)
What arel TORCH infections?
TORCH infections early in pregnancy can cause mortality and morbidity including restricted growth, mental retardation, cataracts, cardiac anomalies, and bone defects
Name the congenital TORCH infections
Other (syphilis, parvovirus B19)
What increases your risk of contracting toxoplasmosis?
Cat feces exposure
What is the triad of rubella?
Cataracts, hearing loss, heart murmur
What is the highest risk gestation weeks for rubella?
3-11, most moms are vaccinated tho so this si rare
What is the triad of cytomegalovirus
Chorioretinitis, cerebral calcifications, microcephaly
What is an echogenic bowel?
Ultrasound finding that is a marker for aneuploidic abnormalities and TORCH pathologies
What are some risk factors for preterm birth?
-Preterm premature rupture of placental membranes
-Uterine, cervical, placental structural abnormalities
What is considered low birth weight?
What are some complications of prematurity?
-Hyaline membrane disease and chronic neonatal lung disease (functional and structural immaturity of lungs)
-Necrotizing enterocolitis (ischemic damage to gut)
-Long term complications including dev delay
Describe hyaline membrane disease
-Most common cause of resp distress in newborns
-Presentation: inc difficulty breathing beginning 30 min after birth, progressing to cyanosis within hours
-Routine chest radiograph shows granular densities described as "ground glass" appearance
What is the micro path of hyaline membrane disease?
Thick membranes, dilated alveoli, decreased surface area
What is the pathogenesis of hyaline membrane disease?
The lungs need 37 weeks to fully develop.
Structural: not enough surface area
Functional: not enough surfactant
Details: premature lungs have decreased structural surface area for gas exchange and increased surface tension from a functional deficit of surfactant, both of which lead to respiratory distress.
What is chronic neonatal lung disease (gross path and micro path)?
-Result of hyaline membrane disease
-Gross path: lung has nodular, irregular, firm surface with extra fissures
-Micro path: weird architecture with simplified and enlarged alveolar spaces (less surface area) and proliferation of smooth muscle
What is necrotizing enterocolitis?
-Immaturity of the intestinal tract including motility, digestion, circulatory regulation and barrier fxn
-Has high mortality (50%) and increasing incidence
What is the gross path of necrotizing enterocolitis?
-Gross path: distended bowel with thin walls, congestion, hemorrhagic infarction, and possibly perforation, strictures, and adhesions
What is the micropath of necrotizing enterocolitis?
-Micro path: loss of cellular details, transmural necrosis, hemorrhage
What is the pathogenesis of necrotizing enterocolitis?
-Pathogenesis: multifactorial—intestinal immaturity, immune immaturity, ischemia, hypoxia, genetics, feeding practices
What are the complications of necrotizing enterocolitis?
-Complications: surgery (20-40%), neurodevelopmental delay, growth delay, bowel strictures, short gut syndrome, abdominal adhesion with risk of obstruction
What are the symptoms of necrotizing enterocolitis?
-Apnea, bradycardia, temp instability, lethargy, mottling, inc need for ventilatory support
What is intraventricular hemorrhage?
-Disease of immaturity
-The germinal matrix gives rise to neurons in infants and is very vascular. It recedes from 16-34 weeks gestation but if it is still present at birth, it can bleed and cause hemorrhage, leading to impairment or death.
-Bleeding occurs in germinal matrix and then spills into the lateral ventricles
-Bleeding occurs within hours of birth, but can be delayed
What is a congenital hemangioma?
-Benign tumor of vascular origin
-Most common tumor of infancy
-Can occur in nearly any location and cause localized morbidity (ex. Airway obstruction in the lung, platelet trapping from being large)
What is a congenital teratoma?
-A tumor with all 3 germ cell layers
-Occur anywhere on midline of the body
-Benign (mature teratoma) or malignant (immature teratoma)
-Grow very rapidly—this can cause hemorrhage and fetal demise
Where do congenital teratomas most commonly occur?
List some other common malignant neoplasms of infancy/childhood:
leukemia, lymphoma, hepatoblastoma, mesoblastic nephroma, fibrosarcoma, Wilms tumor
What is Wilms tumor ?
Tumor of the kidney (also called nephroblastoma)
Note that most congenital and pediatric tumors recapitulate developmental programs and may mimic the histologic appearance of fetal tissue, in contrast to adult tumors with multiple somatic mutations.