Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
30 Cards in this Set
- Front
- Back
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
|