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16 Cards in this Set

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what are major and minor congenital malformations
major- significant long term disability/death, minor- unusual morphological features of no serious medical or cosmetic consequence
incidence of major malformations
15-20% of stillborn (33% chromosomal), 2-3% of liveborn, 2-3% within the first 5 yrs
what is the risk of major malformations if you have minor ones
none 1%, one 3%, two 10%, three or more 205
categories of congenital malformations
genetic (single/multiple genes, chromosomal), environmental (mechanical, infectious, teratogen)
types of anomalies
malformation, deformation, disruption
what is malformation
morphological defect of an organ, part of an organ or larger area of the body that results from intrinsically abnormal developmental process during organogenesis
types of malformations
agenesis (failure to form), aplasia (failure to proliferate), hypoplasia (insuff prolif), hyperplasia, dysplasia
what is a deformation
abnormal shape/position of body due to mechanical forces, usually extrinsic (twin, fibroids, oligohyd), can be intrinsic (oedema), usually after organogenesis, no necessary tissue defect required
features of deformation
loss of symmetry, altered alignment, abnormal postitioning, distorted configuration
what is disruption
destructive process that alters structures after normal fetal development, changes include (altered shape, division of parts not usually divided, fusions, amputations) may be vascular or amniotic bands
what is a syndrome
group of features that occur together, implies a common aetiology
what is an association
non random concurrence of two or more features, more freq than by chance, aetiology unknown eg vacterl
what is a complex
composite of manifestations
what is a spectrum
multiple features, expecially where prominent features are variable in expression (eg di george)
what is a sequence
pattern of anomalies resulting from a single primary anomaly/mechanical factor (olighyd, amniotic band)
how do you diagnose large deletions/duplications
karyotype, fish, comparative genomis hybridisation microarry