Fetal Pathology

Question 1

What week gestation does the fetal period start?

Answer 1

9 wks and lasts until birth

Question 2

What is the perinatal period?

Answer 2

3-5mo before birth and first week post birth

Question 3

What is the neonatal period?

Answer 3

Birth-4wks

Question 4

What is considered preterm?

Answer 4

<37wks

Question 5

Genetic defects count for how many % early preg loss

Answer 5

(early preg loss=<20wks gestation) answer: 50%, monosomy X is the most common

Question 6

What is 45X syndrome?

Answer 6

Turner’s 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)

Question 7

What arel TORCH infections?

Answer 7

TORCH infections early in pregnancy can cause mortality and morbidity including restricted growth, mental retardation, cataracts, cardiac anomalies, and bone defects

Question 8

Name the congenital TORCH infections

Answer 8

Toxoplasmosis
Other (syphilis, parvovirus B19)
Rubella
Cytomegalovirus
Herpes

Question 9

What increases your risk of contracting toxoplasmosis?

Answer 9

Cat feces exposure

Question 10

What is the triad of rubella?

Answer 10

Cataracts, hearing loss, heart murmur

Question 11

What is the highest risk gestation weeks for rubella?

Answer 11

3-11, most moms are vaccinated tho so this si rare

Question 12

What is the triad of cytomegalovirus

Answer 12

Chorioretinitis, cerebral calcifications, microcephaly

Question 13

What is an echogenic bowel?

Answer 13

Ultrasound finding that is a marker for aneuploidic abnormalities and TORCH pathologies

Question 14

What are some risk factors for preterm birth?

Answer 14

• Preterm premature rupture of placental membranes
• Intrauterine infection
• Uterine, cervical, placental structural abnormalities
• Multiple gestation

Question 15

What is considered low birth weight?

Answer 15

<2500 grams

Question 16

What are some complications of prematurity?

Answer 16

• Hyaline membrane disease and chronic neonatal lung disease (functional and structural immaturity of lungs)
• Necrotizing enterocolitis (ischemic damage to gut)
• Intraventricular hemorrhage
• Sepsis
• Long term complications including dev delay

Question 17

Describe hyaline membrane disease

Answer 17

• 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

Question 18

What is the micro path of hyaline membrane disease?

Answer 18

Thick membranes, dilated alveoli, decreased surface area

Question 19

What is the pathogenesis of hyaline membrane disease?

Answer 19

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.

Question 20

What is chronic neonatal lung disease (gross path and micro path)?

Answer 20

• 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

Question 21

What is necrotizing enterocolitis?

Answer 21

• Immaturity of the intestinal tract including motility, digestion, circulatory regulation and barrier fxn
• Has high mortality (50%) and increasing incidence

Question 22

What is the gross path of necrotizing enterocolitis?

Answer 22

-Gross path: distended bowel with thin walls, congestion, hemorrhagic infarction, and possibly perforation, strictures, and adhesions

Question 23

What is the micropath of necrotizing enterocolitis?

Answer 23

-Micro path: loss of cellular details, transmural necrosis, hemorrhage

Question 24

What is the pathogenesis of necrotizing enterocolitis?

Answer 24

-Pathogenesis: multifactorial—intestinal immaturity, immune immaturity, ischemia, hypoxia, genetics, feeding practices

Question 25

What are the complications of necrotizing enterocolitis?

Answer 25

-Complications: surgery (20-40%), neurodevelopmental delay, growth delay, bowel strictures, short gut syndrome, abdominal adhesion with risk of obstruction

Question 26

What are the symptoms of necrotizing enterocolitis?

Answer 26

- Non-specific | - Apnea, bradycardia, temp instability, lethargy, mottling, inc need for ventilatory support

Question 27

What is intraventricular hemorrhage?

Answer 27

- 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

Question 28

What is a congenital hemangioma?

Answer 28

- 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)

Question 29

What is a congenital teratoma?

Answer 29

- 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

Question 30

Where do congenital teratomas most commonly occur?

Answer 30

Sacrococcygeal

Question 31

List some other common malignant neoplasms of infancy/childhood:

Answer 31

leukemia, lymphoma, hepatoblastoma, mesoblastic nephroma, fibrosarcoma, Wilms tumor

Question 32

What is Wilms tumor ?

Answer 32

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.

Question 33

What are the mechanisms of disease in the fetus and neonate?

Answer 33

- Anomalous development - Infection - Neoplasia - Unique complications of prematurity - -Hyaline membrane disease and chronic neonatal lung disease (functional and structural immaturity of lungs) - -Necrotizing enterocolitis (ischemic damage to gut) - -Intraventricular hemorrhage - Sepsis - -Long term complications including dev delay