Congenital Disorders Flashcards
What does birth defect mean?
Abnormality of structure/function or metabolism present at birth
What does malformation mean?
arises during embryonic life as abnormal developmental process
What does dysmorphic mean?
a term used to indicate presence of multiple minor malformations
What does association mean?
non-random occurrence of several anomalies not known to be a syndrome or sequence
What does malformation syndromes mean?
chromosomal, inherited or environmentally induced
What does deformation mean?
mechanical alteration on form or shape with previous normal development
What does disruption mean?
interruption of normal development resulting in destruction of a body part
What does sequence mean?
single primary malformation with its secondary consequences
what does syndrome mean?
distinctive pattern of malformations with a single underlying cause
How are congenital abnormalities classified?
Lethal
severe
mild
What is an example of a lethal congenital abnormality
anencephaly
What is an example of a severe congenital abnormality?
congenital diaphragmatic hernia
What is an example of a mild congenital abnormality?
developmental dysplasia of hip (DDH)
What is a terarogen?
any agent administered to a pregnant mother that directly or indirectly causes structural or functional abnormalities in the fetus
What effects does congenital defects have on the baby?
chromosomal abnormalities
impairement of implantatiom of the conceptus
reabsorption or abortion of the early embryo
structural malformations
FGR/IUGR retardation
fetal death
functional impairment of the neonate
behavioural abnormalities
intellectual impairment
How do drugs pass to the fetua?
via the placenta
When is the blood brain barrier developed?
2nd half of pregnancy
What teratogens do midwives screen for?
alcohol
tobacco
contraceptive pills
MMR vaccine
opioids
NSAIDs
ACE inhibitors
SSRIs
methotrexate
epilepsy treatments
radiation
illicit drugs
What is neural tube defects?
malformations of the developing brain and spinal cord
How is neural tube defects diagnosed?
ultrasound
elevated MSAFP levels
amniocentesis
What is anencephaly?
a total or partial absence of the brain, together with total or partial absence of the cranial vault and the covering skin
What is encephalocoele?
herniation of brain tissue outside the cranial cavity
What is choanal atresia?
congenital blockage of the posterior nares caused by the presence of a bony septum or a soft tissue membrance
What is Pierre Robin Sequence?
mandibular hypoplasia in association with cleft palate resulting in airway obstruction by posterior displacement of the tongue and the small mandible
