Term
| what arethe 7 types of congenital abnormalities, name one example that goes with each |
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Definition
malformations- polydactly
disruption- amniotic bands
deformation- oligohydraminos
sequence- abberation in oogenesis
malformation syndrome- trisomy 13
agenesis- missing orgsn
atesia- hollow organ is solid |
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Term
| wht are the three causes of genetic abnormality |
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Definition
genetic
enivornmental
multifactorial |
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Term
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Definition
| INTRINICALLY abnormal developmental process |
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Term
| what are 2 causes of malformations |
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Definition
single gene mutation
multifactoral |
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Term
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Definition
| EXTRINSIC disturbance results in secondary destruction of an organ or body region |
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Term
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Definition
| EXTRINSIC disturbance in morphogenesis due to localized or generalized compression of the fetus |
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Term
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Definition
| multiple congenital abnormalities that result from secondary effects of a signle localized abberation in organogenesis |
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Term
| define malformation syndrome |
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Definition
| presence of several defects from a single causation |
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Term
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Definition
| complete absence of an organ or its anlage |
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Term
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Definition
| absence of an opening, commonly by enterance of exit |
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Term
| oligohydraminosis: aka, define |
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Definition
potter syndrome
too little amniotic fluid causes generalized compression of fetus and other complications |
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Term
| what complications are caused by oligohydraminosis (4), exlain each |
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Definition
permanent contracted position: grew in bad position, altered faces, positioning of hands and feet
breech presentation: baby has no room to flip head first for delivery with no fluid
pulmonary hypoplasia: most common, lungs need practice breaths with fluid to mature and are not ready by delivery due to too little fluid
aminion nodosum: plaque like lesions in amnion |
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Term
| what caues oligohydraminosis (3) |
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Definition
anything that effects the production of pee
no kidney, obstruction, leaking amniotic fluid |
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Term
| what is the most important factor in enivornmental insult to babys development |
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Definition
| timing, where the baby is at in development |
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Term
| what is the LNMP for the first week of baby's development |
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Definition
3 weeks before
LMNP wk3 = baby wk1 |
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Term
| what is the consqeuence of environemtal exposure in LNMP weeks 3 and 4 |
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Definition
all or nothing. no abnormalities will form, it anything happens it will terminate the pregnacy.
usually not susceptible to teratogens at this time |
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Term
| when do enivornmental factors get more sensitive for developing baby, why is this a concern clinically |
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Definition
LNMP week 5. because the LNMP was not that fat away, mom could just think oh I'm a day late and take a pregnacy test and at this time it could still be negative so she goes out drinking thinking she isnt pregnant and a few weeks later she takes a test and its positive..
tell people trying to get pregnant not to drink at all. |
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Term
| how do teratogens (drugs, alcohol) cause problems with baby. what are two examples of drug teratogens |
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Definition
genes and proteins that regulate morphogenesis may be targets
thalamadide, acutane (retinoic Acid) |
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Term
| what does acutane do to babies, what is it made of |
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Definition
| retinoic acid changes HOX gene expression causing retinoic acid embryopathy |
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Term
| what are the 3 signs of retinoic acid embryopathy |
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Definition
| CNS, cardiac, crainofacial |
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Term
| what does thalamadide do to babies |
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Definition
| helps prevent miscarriage but causes developmental defects |
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Term
| prematurity: classification, relation to birth weight |
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Definition
gestational age <37 weeks
may have low birth weight but appropirate for gestational age |
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Term
| what classifies low birth weight |
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Definition
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Term
| what is the most common cause of neonatal mortality |
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Definition
| premature infants are more suceptible to morbidity and mortality later in life |
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Term
| what are the 4 major risk factors for premature baby birth |
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Definition
premature rupture of membranes
intrauterina infection causes choriomanionitis
structural abnormalities of uterus, cervic, placenta
multiple gestation |
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Term
| what are common complications in baby when premature (3) |
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Definition
hayline membrane disease (respiratory distress syndrome)
necrotizing endocarditis
inraventricular and germinal matrix hemorrhage (brain hemorrhage) |
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Term
| define small for gestational age |
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Definition
undergrown rather than immature
<2500g full term |
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Term
| what are the later in life risk for babies small for gestational age (3) |
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Definition
cerebral dysfunction
learning dissabilities
sensory impairments |
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Term
| what are the three factors that determine if a baby will be small for gestational age |
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Definition
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Term
| what are the 3 things that can happen in the fetus that can make it be small for gestational age |
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Definition
congenital abnormalities
congenital infections
chromosomal disorders |
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Term
| what are the placental causes of small for gestational age babies |
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Definition
| brain is spared relative to visceral organs (asymmetric distribution) |
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Term
| what are the material causes of small for gestational age babies (4) |
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Definition
maternal disease
drugs
enivornmental agents
malnutrition |
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Term
| what is the most common cause of small for gestational age |
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Definition
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Term
| how can you determine if small for gestational age was due to fetal or placental factors |
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Definition
fetal: growth retardation will affect all organs symmetrically
placental: brain and heart get more resources to stay alive so their head will be appropirate for their age and their body small with little fat |
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Term
| what is another name for respiratory distress syndrome of the newborn, why |
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Definition
hayline membrane disease
plasma leaks into alveolar space (mostly the fibrin) can makes glassy appearance (hayline) |
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Term
| what is the most common cause of respiratory distress syndrome in the newborn |
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Definition
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Term
| what is the pathology of respiratory distress syndrome |
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Definition
| immature lung type II pheumocytes are not developed enough and cannot produce surfactant |
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Term
| what are other causes of respiratory distress syndrome other than prematurity (3) |
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Definition
maternal diabetes
C-section before labor initiates
multiple gestation |
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Term
| why does diabetes cause respiratory distress syndrome |
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Definition
| insulin inhibits surfactant production |
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Term
| what does a C section before labor initiates increase respiratory distress syndrome, what can we do to fix this |
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Definition
cortisol from labor stress increases surfactant
inject cortisol into mom when thought to be premature |
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Term
| why does the plasma leak in respiratory distress syndrome |
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Definition
| decreased surfactant causes underperfusion and hypoventilation, hypoxemia causes acidosis and pulmonary vasoconstruction and hypoperfusion which causes endothelial and epithelial damage and allows for leaking |
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Term
| what has the incidence of respiratory distress syndrome went down |
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Definition
| exogenous surfactant was produced and can now be administered |
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Term
| when a baby has respiratory distress synrome and exogenous surfactant isnt good enough, then what, what are the complications (2) |
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Definition
put on ventilator
causes retinopathy of prematurity and bronchopulmonary displasia |
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Term
| retinopathy of prematureity: aka, cause |
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Definition
retrolental fibroplasia
hyperoxic phase of therapy decreases VEGF that stops vessel growth but then when removed from ventilation it causes rebount of VEGF and abnormal growth of the vessels in the retina |
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Term
| what are the signs of retinopathy of prematurity (4) |
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Definition
| abnormal vessels are fragile, bleed, cause scaring, cause detachment |
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Term
| what qualfieies that someone has bronchipulmonary dysplasia |
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Definition
| neonate <32 wks needing 28d+ of oxygen therapy |
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Term
| what is the cause of bronchopulmonary displasia |
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Definition
| increased alveolar number and decrease in alveolar cells (hypoplasia) due to proinflammatory cytokines released in infants (TNF, IL-1) |
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Term
| what treats/reduces bronchopulmonary displasia (3) |
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Definition
gentiler ventilation
prophylactic surfactant
glucocorticoid therapy |
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Term
| who gets necrotizing enterocolitis (2) |
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Definition
| premature and very low birth weight babies (<1500g) |
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Term
| what are the causes of necrotizing enterocolitis (3) |
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Definition
intestinal ischemia
bacterial colonization of the gut
formula feeds |
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Term
| what part of the gut is involved in necrotizing enterocolitis (3), what is seen there (3) |
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Definition
terminal ileum, cecum, right colon
distension, congestion, gangrenous, submucosal gas bubbles (see on x-ray), ulceration, bacterial colonization |
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Term
| necrotizing enterocolitis: when does it show up, what are the signs (2) |
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Definition
10-12 days after birth
rapid progression of bloody stool and distension of abdomen |
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Term
| why does the abdomen distend in necrotizing enterocolitis |
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Definition
| bacteria in intestine wall make gas and inflammatory products |
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Term
| what lab signs can be seen for necrotizing enterocolitis, what are the clinical complications of this sign |
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Definition
pneumatosis intestinalsis (gas within intestine wall)
can perforate intestinal wall and cause death |
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Term
| what is the complication in infants who survive necrotizing enterocolitis |
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Definition
| post-necrotizing enterocolitis from fibrosis from healing |
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Term
| what qualifies sudent infant death syndrome |
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Definition
| sudden death of an infant <1yo unexplained after case investigation, autopsy, examination of death scene, and review of clinical history |
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Term
| what are the three venues of cause fo SIDS |
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Definition
vulnerable infant
homeostatic mechanisms not completely developed
exogenous stressor |
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Term
| why is the infant vulnerable in SIDS |
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Definition
| have delayed development or arousal and cardiorespiratory control |
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Term
| what part of the brain is not developed enough stopping homeostatic regulation and causig SIDS |
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Definition
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Term
| what exogenous stressors can cause SIDS (3) |
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Definition
| hypercarbia, hypoxia, thermal stress |
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Term
| what are some common findings seen in kids with SIDS (4) |
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Definition
petechiae on thymus, epicardium visceral, parietal pleura
congested lungs with or without pulmonary edema |
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Term
| what are 7 risk factors for SIDS |
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Definition
young maternal age <20yo
drug abuse in either parent
short intergestational intervals
brain stem abnormalities
defective aroursl and cardiorespiratory control
prematurity/low birth weight
prone sleep position |
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Term
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Definition
| fetal accumulation of fluid during intrauterine growth |
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Term
| what are the levels of severity of fetal hydrops (3), define each |
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Definition
hydrops fetalis: progressive generalized edema, usually fatal
cystic hygroma: postnuchal fluid
localized edema: pleural, peritoneal, etc |
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Term
| what are the two causes of feral hydrops |
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Definition
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Term
| what are the 3 major causes of non-immune fetal hydrops, give examples |
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Definition
cardiovascular defects
chromosomal anomalies- turner syndrome
fetal anemia: homozygois a-thalassemia, infection with parvovirus B10 |
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Term
| what is a common cases of immune hydrops |
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Definition
| antibody induced hemolytic disease of the newborn |
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Term
| what is the cause of antibody induced hemolytic disease of the newborn (2) |
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Definition
mother and fetal blood groups are incompatiable
Rh- mom and Rh+ fetus ("D antigen")
type O mom with type A/B fetus (mild) |
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Term
| how does hemolytic disease of the newborn work |
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Definition
maternal antibodies cross placenta and destory fetal RBC promoting IgM production which cannot cross placenta
baby is born and mom makes IgG
second pregnacy baby is Rh+ and IgG crosses placenta |
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Term
| why is hemolytic disease of the newborn not an issue, how does it work |
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Definition
| RhoGam: give mom antibodies to Rh to prevent sensitization. RBC from baby are coated with antibody and mom will never been sensitized |
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Term
| what can happen if hemolytic disease of the newborn goes untreated (6) |
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Definition
congestive heart failure
erythroblastosis fetalis: many immature RBC in circulation
hepatosplenomeagly: liver makes more RBC to replace destoried ones by mom's IgG, spleen cleans up destoried RBC
jaundice due to hyperbilirubinemia second to hemolysis increasing bilirubin
kinicterus: bilirubin accumulates in brain parenchyme |
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Term
| what are the 4 main areas of the body CF affects, name two others |
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Definition
sweat glands, intestine, pancrease, airway
vas deferens, epididmis, other |
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Term
| how do we find out a lot of babies have CF |
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Definition
mecenium ileus (first baby poo) is very thick and sticky and baby cannot get it out
98% of meconium ileus is caused by CF (not all CF mas meconium ileus issues) |
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Term
| CF: inheritence, severity determination |
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Definition
autosomal recessive even though it is structural
varies in severity on severity of mutation given from each parent |
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Term
|
Definition
| mutation in the gene that makes protein for Cl transport |
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Term
| what happens in the sweat cells normally and in someone with CF |
|
Definition
normally NaCl goes out of the lumen into the sweat cell
in CF: Cl cannot get back into the sweat cell so Na hangs out in the lumen with it increasing Na excretion |
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Term
| what happens in the intestines, pancreas, and airway normally and in someone with CF |
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Definition
normally: Cl enters the airway and Na and water enter the cell
in CF: Cl cannot enter the airway so water and Na super leave the airway and enter the cell making the secretions thick and stopping cillia movement |
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|
Term
| what is the clinical complication of CF intestine issues |
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Definition
| decreased absorption of nutrients and failure to thrive |
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|
Term
| what is the clinical complication of increased lung viscosity in CF |
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Definition
|
|
Term
| what is the clinical complications of the problems in the pacrease in CF (3) |
|
Definition
fibrosis of the pancreas
loss of islets causes diabetes |
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|
Term
| what is the most common cause of death in someone with CF |
|
Definition
| cardiopulmonary complications |
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|
Term
| what is the initial test for CF diagnosis |
|
Definition
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