L24 - Congenital Anomalies Flashcards
what are the most common congeniyal anomalies
what are the risk factors for such anomalies
how to prevent some abnormalities
heart defects, neural tube defects, down syndrome
genetic, infectious, teratogens
also socioeconomic and demographics
vaccination, folic acid, iodine, antenal care
chromosomal / genetic abnormalities
what is consanguinity
how can structural abnormalities be classified
difference between sundrome and a sequence
what are the names for trisomy 21, 18, 13
21 - downs]
18 - edwards
patau - 13
down’s syndrome
what are the facial features
other features
other problems
–
edwards syndrome
what are the features
small face, jaw overlap fingers congenital heart GI abnormalities, urogenital nriological pulmonary hypoplasia
die within 1st year
patau syndrome
wwhat are the features
congen heart
facial 0 cleft llipm small eyes (microopthalmia), abdsence of eye /s, microcephaly
GI abnormalities - ophalocele single brain - holoprosencephaly small penis / enlarged clitoris exta fingers / toes - polydactyly rounded bottom to feet
die within days
what is a teratogen
give examples. what do they do
agent which causes malformation - could e virus, drug, radiation
warfarin - microcephaly and chondrodysplasia
thalidomide - limb and heart defects
rubella - virus 0 deafness
pesticides - neural tube defects
hyperthermia - fetal death, neural tube defects
radiation - microcephaly, neural tube defects
alcohol - FAS - maxiallary hyperplasia, mentak retardation
androgens 0 masculinisation of ex genetalia
detecting congenital abnormaities
when
what is done
why detect
pre implantation genetic testing for IVF
AN screening program
diagnostic in utero tests - amniocentesis, CVS
11 weeks 0 anencaphaly and major limb defects
20 weeks - heart, brain , spine, skeleytal, cleft lip and palate, bowel, kidney, movements
3rd - growth, liquor volume, movements
