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38 Cards in this Set

  • Front
  • Back
Top 3 Causes of death in neonates and infants
1. Congenital malformations, chromosomal abnormalities, deformations.
2. Low birth weight/short gestational age related
Top 3 causes of death in children 1-4 years of age
1. Accidents
2. Congenital malformations, deformations, chromosomal abnormalities
3. Malignant Neoplasms
Top 3 causes of death in children 5-14 years of age
1. Accidents
2. Malignant neoplasms
3. Homicide
Top 3 causes of death in people 15-24 years of age
1. Accidents
2. Homicide
3. Suicide
Define malformations
Primary errors of morphogenesis, an intrinsically abnormal process.
-usually multifactorial
Define disruptions
Secondary destruction of an organ or body region that was previously normal in development: arise from EXTRINSIC disturbance in morphogenesis (i.e., amniotic bands, environmental causes)
Define deformations
EXTRINSIC interruption of normal development caused by compression of fetus from abnormal biomechanical forces (most common form is from uterine constraint): can resutlt from oligohydramnios, multiple fetuses, small uterus, first pregnancy, leiomyomas.
Define sequence
A sequence is a pattern of CASCADE ANOMALIES, often explained by a single localized aberration in organogenesis (i.e., oligohydramnios (or Potter's) sequence)
Define syndrome
A syndrome is a constellation of congenital abnormalities, believed to be pathologically related, that can NOT be explained by a single localized defect.
Define Agenesis
Agenesis refers to the complete absence of an organ AND its associated anlage.
Define aplasia
Absence of an organ, owing to the failure of development of the anlage.
Define Atresia
Absense of an opening to a hollow organ (i.e., esophagus, gut)
Define hypoplasia (context of embryogenesis/fetal development)
the incomplete development or underdevelopment of an organ associated with a decreased number of cells.
Define hyperplasia (context of embryogenesis/fetal development)
the overdevelopment of an organ associated with increased number of cells.
Causes of congenital anomalies in humans.
- chromosomal aberrations (10-15%)
- mendelian inheritance
- Maternal/placental (2-3%)
- Rubella
- toxoplasmosis
- syphillus
- cytomegalovirus
- Maternal disease states (6-8%)
- diabetes
- PKU (mother)
- endocrinopathies
- drugs & chemicals (1%)
- alcohol
- folic acid antagonists
- androgens
- phenytoin
- thalidomide
- wafarin
- 13-cis retinoic acid
- others
- irradiation (1%)
Multifactorial (20-25%)
Unknown (40-60%)
Two phases of intrauterine development (important, since the timing of the teratogenic insult has an important impact on the occurrence and type of anomaly produced)
Embryonic period: the first 9 weeks of development
- early embryonic period (0-3 weeks) - embryo either dies or lives
- between weeks 3-9, the embryo is especially sensitive to teratogens, since this is when the organs are developing from germ layers (weeks 4-5 are particularly sensitive)

Fetal period: 9 weeks - birth
- reduced susceptibility to teratogenic insults
Steps/factors potentially affected by teratogenic insults:
-Proper cell migration
-Cell proliferation
-Cellular interactions
-Cell-matrix associations
-Programmed cell death (apoptosis)
-Hormonal influences and mechanical forces
average for gestational age (between 10th & 90th percentiles in weight for gestational age)
- at term, normal weight is at least 2500 grams (at least 5.5 lbs)
small for gestational age
(<10th percentile)
large for gestational age
(>90th percentile)
Normal term length
40 weeks, +/- 2 weeks
birth before 37 weeks gestation
birth After 42nd week of gestation
Risk factors for prematurity
(many of these are also result in FETAL GROWTH RESTRICTION, or IUGR (intrauterine growth restriction) )
-PPROM (preterm premature rupture of placental membranes, causes 30-40% of preterm deliveries (the single largest cause of preterm deliveries)
-Intrauterine infection (causes preterm delivery with & without rupture of membranes, present in approx 25% of preterm deliveries - correlates with chorioamnionitis and funisitis)
- uterine, placental, and cervical structural abnormalities
- multiple gestation
Sequelae of fetal growth restriction:
- hyaline membrane disease
- necrotizing enterocolitis
- sepsis
- intraventricular hemorrhage
- long term complications, including developmental delay
Fetal causes of IUGR (FGR)
##results in symmetrical growth restriction##
- chromosomal disorders (triploidy, trisomy 18, trisomy 21, trisomy 13, others)
- congenital infection (fetal infection) - the TORCH
Placental causes of IUGR
##results in assymetrical FGR, with relative sparing of brain##
- umbilical-placental vascular anomalies
- placenta abruptio
- placenta previa
- placental thrombosis & infarction
- placental infection
- multiple gestations
Maternal causes of IUGR
##results in assymetrical FGR##
- preeclampsia (toxemia of pregnancy)
- chronic hypertension
- narcotic abuse
- alcohol use
- nicotine use
- certain drugs (teratogens, phenytoin)
- malnutrition of mother
Stages of embryonic lung development
- glandular stage:
- begins in month 7; imperfectly formed alveoli, cuboidal epithelium, thick inter & intra-lobular CT
- saccular stage
- between weeks 26-32; cuboidal epithelium becomes flat type 1 alveolar cell, and lamellar-body-containing type 2 alveolar cells
- alveolar stage
- reduction of interstitial tissues & increase in capillaries

##note: full development of lungs is complete by 8 years of age
physiological jaundice
normal jaundice, caused by break down of fetal RBC's, coupled with inadequacy of biliary excretory function of liver
APGAR (appearance, pulse, grimace, activity, respirations)
- taken at 1 & 5 minutes
- 5 metrics, scored 0, 1, or 2
- COLOR (appearance) - 0 = blue, pale; 1 = body pink, extremities blue; 2 = pink baby
- HEART RATE (pulse) - 0 = absent; 1 = below 100; 2 = over 100
- RESPONSE TO CATHETER IN NOSTRIL (grimace) - 0 = no response; 1 = grimace; 2 = cough or sneeze
- MUSCLE TONE (activity) - 0 = limp; 1 = some flexion of extremities; 2 = active motion
- RESPIRATORY EFFORT (respirations) - 0 = absent; 1 = slow, irregular; 2 = good, crying
Most common birth injury
intracranial hemorrhages:

- generally due to excessive molding of the head or sudden pressure changes as the head is subject to the pressure of forceps or sudden precipitate expulsion
- predisposed by prolonged labor, hypoxia, hemorrhagic disorders, or intracranial vascular anomalies
perinatal infections
infections passed from mother to child - fall into two groups: transcervical (ascending) infections & transplacental (hematologic) infections
Transcervical infections
- passed from mother to child either in utero or during child birth
- transferred to child when it inhales amniotic fluid shortly before birth, or when passing through the birth canal
transplacental infections
- parasitic, viral, and a few bacterial infections gain access to fetus transplacentally, via the chorionic villi
- may occur any time during gestation or during birth as a result of maternal-to-fetal transfusion
- example is parvovirus B19
TORCH infections
T - Toxoplasmosis
O - Other (treponema pallidium,
R - Rubella virus
C - cytomegalovirus
H - Herpes virus
Why are the TORCH infections grouped together?
because the evoke clinically similar manifestations:
fever, encephalitis, chorioretinitis, hepatosplenomegaly, pneumonitis, myocarditis, hemolytic anemia, vesicular or hemorrhagic skin lesions
- if infected early, may cause congenital, chronic sequelae, such as: growth & mental retardation, cataracts, congenital heart defects, and bone defects