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30 Cards in this Set

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