Developmental pathology Flashcards by Emily Barker

Differentiate embryo vs fetus

embryo from conception to end of week 8

fetus from week 9 through birth

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What are the products of conception?

embryo/ fetus + placenta

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What timeframe defines the neonate period?

first 4 weeks of extrauterine life

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What is the difference between developmental age and gestational age?

Developmental age: conception until birth or intrauterine demise.
Gestational age: same as menstrual age, from LMP until removal or delivery of conceptus (starts 2 weeks earlier)

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What is occurring during balstogenesis?

Developmental fields established, heart forms, neural tube closes, primordial organ buds form

fertilization through week 4

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What is occurring during organogenesis?

primitive organs form

weeks 5-8

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Teratogenic insults are most likely to cause organ/ localized limb defects during _____

organogenesis, the second 4 weeks of embryogenesis

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What is occurring during phenogenesis?

organ development and growth

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What types of defects occur during phenogenesis?

syndromes, sequences, deformations

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Differentiate intrinsic vs extrinsic abnormalities

intrinsic: abnormal cell/ development from the start
extrinsic: external forces alter otherwise normal development

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Intrinsic abnormalities include _____ whereas extrinsic abnormalities include ________

malformations, dysplasias

deformations, teratogenic disruptions

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Differentiate malformation vs deformation

Malformation: any abnormally formed organ or tissue
Deformation: abnormal form, shape, or position of a body part caused by external mechanical forces

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List some possible causes of deformations

oligohydramnios
malformed uterus
leiomyomata
major fetal CNS defects that limit motility

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Distinguish talipes calcaneovalgus vs talipes equinovarus

Valgus: angle of deformity points toward midline
Varus: angle of deformity points away from midline

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A _____ is a group of multiple anomalies that are derived from a single cause or prior anomaly

sequence

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Describe the Potter sequence

result of oligohydramnios

renal agenesis/ aminotic leak–> oligohydramnios–> fetal compression–> pulmonary hypoplasia, altered/ deformed facies, positioning defects of hands and feet, breech presentation

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A ____ is a pattern of congenital anomalies pathogenetically related but not explained by a single localized initiating defect

syndrome

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List the most common caues of congenital anomalies

chromosomal abnormalities
environmental
single gene mutations

by far most common are multifactorial and undetermined

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List features of Down syndrome

cardiac defects, single simian palmar crease, macroglossia, eye abnormalities, leukemias, dementia

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List features of Edwards syndrome (trisomy 18)

micrognathia, overlapping fingers

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List features of Patau syndrome (trisomy 13)

polydactyly, palate clefts, micropthalmia

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Peak sensitivity to ____ is during the fourth and fifth weeks of embryogenesis

teratogens

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List drugs/ chemicals that are known teratogens

thalidomide
valproic acid
vitamin A
alcohol
warfarin
radiation

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_____ causes limb anomalies in exposed fetuses

thalidomide

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_____ disrupts the HOX transcription factor proteins involved in limb, vertebral, and craniofacial structure positioning

valproic acid

_____ causes CNS, cardiac, and craniofacial defects esp cleft lip/ palate in exposed fetuses

retinoic acid, ex acutane

Fetuses exposed to ____ have abnormal facies, atrial septal defects, and prenatal and postnatal growth retardation

alcohol

What anomalies can be present in the fetuses of mothers with poorly controlled diabetes

macrosomnia, congenital heart defects, neural tube defects, pancreatic hyperplasia and hypoglycemia after delivery

______ is an anti-neoplastic drug similar to thalidomide

lenalidomide

_____ downregulates wingless (WNT) signaling, causing congenital malformations

Thalidomide

____ disrupts TGF-B signaling

retinoic acid

List the most common congenital infections and the most common route of infection

TORCHS: toxoplasmosis, rubella, CMV, HSV, syphilis | usually transplacental, except HSV which is acquired durign birth

List three common defects seen in congenital ifnections

Eyes- retinitis, cataracts Heart defects Deafness- CN VIII damage

For toxoplasmosis, risk of transmission is highest ____, but severity of malformations is greatest _____

risk of transmission increases with gestational age | severity of malformation is highest with early infection

Chorioretinitis is a common manifestation of congenital _____

toxoplasmosis

Risk of transmission of congenital rubella is highest ____

early- first trimester, esp first 8 weeks

List the components of the rubella tetrad

cataracts heart defects esp PDA deafness mental retardation

PDA is associated with congenital ______ infection

rubella

____ infection in the second trimester results in mental retardation, microcephaly, deafness, hepatosplenomegaly

CMV

CMV is characterized by ______

chronic villitis

____ infection is acquired during birth and can be limited to external manifestations or disseminated

HSV

List the external manifestations of congenital herpes

SEM: skin, eyes, mucous membranes

List the complications of disseminated congenital herpes

meningitis, liver involvement

Distinguish early/ infantile from late/ tardive congenital syphilis

infantile: first two years of life, nasal congestion, bullous skin rash, hepatosplenomegaly, saddle nose, saber shins tardive: manifests after two years. Hutchinson triad of notched central incisors, interstitial keratitis, deafness

Immune hydrops fetalis is often associated with:

Rh incompatibility between mother and neonate leading to hemolytic disease of newborn

List three major causes of non-immune hydrops fetalis

cardiovascular defects chromosomal abnormalities esp Turners non-immune fetal anemia esp parvovirus B19

Define hydrops fetalis

severe diffuse edema of soft tissues and multiple effusions in body cavities

____ is a serious complication of hydrops fetalis associated with excessive RBC estruction

kernicterus

Kernicterus tends to affect the ______

basal ganglia (deposition of bilirubin)

What is a cystic hygroma?

fluid accumulation in the lymphatic channels of the posterior neck, like localized fetal hydrops but due to a structural defect not RBC destruction

Cystic hygroma is highly associated with ______

Turners, 45X

Omphalocele is a _____ defect whereas gastroschisis is a ____ defect

umbilical cord defect | abdominal wall defect

In ______ intestines are covered by a membranous sac and other anomalies are often present. In ____ the loops of bowel are not covered by a sac but it is often an isolated anomaly

omphalocele gastroschisis

List causes of oligohydramnios

``` urethral obstruction (prune belly) renal anomalies (Potter sequence) ```

List causes of polyhydramnios

esophageal atresia

Describe prune belly syndrome/ sequence

urethral obstruction prune like belly with wrinkled skin, absent abdominal musculature dilated bladder, hydroureters, hydronephrosis leading to renal dysplasia from backflow of urine

What parameters define small for gestational age, appropriate for gestational age, large for gestational age, and intrauterine growth restriction?

AGA: birth weight in 10th-90th percentile for gestational age SGA: birth weight less than 10th percentile for gestational age LGA: birth weight greater than 90th percentile for gestational age IUGR: fetus is small for gestational age based on ultrasound measurements

Symmetric/ proportionate fetal growth restriction is often due to ____ factors where as asymmetric growth restriction is often due to _____ factors

symmetric: fetal factors such as chromosomal defect or global insult like TORCHS infection asymmetric: placental/ maternal factors like placental insufficiency, placenta previa or abruption

_____ fetal growth restriction is diagnosed earlier in gestation and is generally less common

symmetric asymmetric: diagnosed later, more common

Describe the vasculature of a normal umbilical cord

two umbilical arteries, one vein

Fetal infections acquired by the _____ route do not cause malformations, but are a risk for preterm delivery

transcervical

Fetal infections acquired by the ______ route typically cause malformations and are acquired earlier in pregnancy

hematogenous/ transplacental- usually viruses and parasites, TORCHS

Lymphocytes or plasma cells in the villi suggest:

chronic transplacental infection, if unknown etiology may be autoimmine

List manifestations of fetal infection with parvovirus B19

fetal anemia, hydrops, extramedullary hematopoiesis

Distinguish PPROM from PROM

PPROM: preterm premature rupture of membranes, membrane rupture before 37 weeks PROM: premature rupture of membranes, rupture before labor but after 37 weeks

List causes associated with premature delivery

``` many.... mutiple gestation structural abnormalities of uterus, cervix smoking, drugs, alcohol poor maternal nutrition chronic maternal disease trauma/ injury ascending infections ```

______ infections can cause premature rupture of membranes, and PROM itself is a risk to these types of infections

Trans-cervical/ ascending

______ is characterized by maternal neutrophilic response to ascending infections, where as ______ is characterized by fetal neutrophils marginating in the cord

chorioamnionitis vasculitis/ funisitis

List two organisms that cause early onset perinatal sepsis and two organisms that cause late onset perinatal sepsis

early: E coli, GBS late: listeria, candida

List the three most common causes of neonatal meningitis

E coli GBS Listeria

List manifestations of immature brain/ CNS due to preterm delivery

germinal matrix hemorrhage

List manifestations of immature GI tract

necrotizing enterocolitis

List manifestations of immature heart

PDA

List manifestations of an immature liver

physiologic jaundice, kernicterus

List manifestations of immature lungs

hyaline membrane disease

______ given to a mother prior to impending delivery of a premature infant can help induce surfactant synthesis

glucocorticoids

Describe the steps/ processes in respiratory distress syndrome

- Atelectasis - Hypoxemia - CO2 retention - Acidosis - Poor pulmonary perfusion - Cellular damage - Leakage of plasma and fibrin - Hyaline membranes (fibrin, fibrinogen, cell debris) - Hyalin membranes

List the major complications of infantile respiratory distress syndrome

bronchopulmonary dysplasia and retinopathy of prematurity (via VEGF).

List classical characteristics of bronchopulmonary dysplasia

epithelial hyperplasia interstitial fibrosis alveolar wall thickening