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30 Cards in this Set
- Front
- Back
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What are birth defects?
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Usually refer to structural anomalies
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What are congenital anomalies?
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Smoething not right @ birth. Not all congenital anomalies are genetic & not all congenital anomalies are structural
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What is meant by genetic?
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Pathophys of the disorder is based in changes in the DNA
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What is hereditary?
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The DNA change is in the germ cell
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What is familial?
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Runs in the family (not always genetic but can be envir)
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Epidemiology ofbirth defects in US?
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4% newborns have visible anomaly. 4% have an anomaly not detectable. 20% nonknown etiology. Higher rates in the south & midwest (due to better reporting)
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Epidemiology trends in the US?
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Overall rate is stable. Neural tube rates contn to dec. Inc in heart malformations, obstructive uropathies, & neurodevelopmental disabilities.
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What is the leading cause of infant mortality in developed countries?
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Congenital anomalies. Infants w/ @ least 1 major congenital anomaly have a 6 fold inc in mortality
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What are the 4 major pathogenic mech of birth defects?
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Malformations, deformations, disruptions, & dysplasia
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What is a malformation?
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Abnormal embryogenesis
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When does malformation usually occur?
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W/I the 1st 11 wks (1st trimester). Except CNS malformations
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What is major malformation?
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Never normal, of fcnal significance
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What is minor malformation?
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Sometimes normal, no fcnal significance (most people have 1 or 2)
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What is a deformation?
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Ext forces secondarily deform tissues; mechanical forces mold normal developing tissue. Can infer magnitude & dir based on physical features
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What can use a deformation?
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Maternal factors: primigravid, maternal size, uterine size, oligohydramnios. Fetal factors: Multiple gestation, fetal anomalies, large fetus, hypomobility
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What are disruptions? Causes?
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Secondary breakdown of tissue. Caused by vascular occulsion/hemorrahage, ischemia, radiation, infection, early amnion rupture
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What is dysplasia?
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Intrinsic cellular architecture of tissue is not normally maintained throughout growth & development. Can predispose to cancer
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What is dyshistogenesis?
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Abnormal org of cells into tissues. Occurs later & independently of morphogenesis.
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What is the diff b/w morphogenesis & histogenesis/
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Morphogenesis is prenatal & histogenesis cont postnatally in all tissue not end differentiated
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What are the patterns of multiple anomalies?
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Syndromes, Assoc, & Sequences
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What is a syndrome?
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Multiple anomalies of 2 or more organ systems w/ a common cause.
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What is an Association?
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Patterns of birth defects that occur together w/ high freq w/o a specific cause; occur together too often to beby chance but no single cause identified
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What is VATER assoc?
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Vertebral anomalies, Anal atresia, Tracheo-Esophageal fistula, Radial dysplasia
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What are some possible explainations for assoc of anomalies?
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Timed insult, common tissue origin, or etiologic heterogeneity
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What is MURCS assoc?
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Mullerian duct anomalies, rena anomalies, Cervico-thoracic Somite dysplasia
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What is CHARGE assoc?
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Coloboma, Heart, Atresia choanae, Retarded growth, Genital anomalies, Ear
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What is the diff b/w CHARGE assoc & syndrome?
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The recent discovery of the cause (mutation in CHD7) of CHARGE makes it a syndome
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What is a Sequence?
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A single early developmental change w/ multiple secondary changes later; snowball effect
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How chould congenital anomalies be approached?
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Take a history, standard & dysmorphic physical then interpret. Quantitate findings. Analyze growth pattern, note familial variation
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What do we perceive as beatiful?
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Symmetry, pattern predictability, health, success, pop avg, similarity to self, & experience. Birth defects violate all these
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