Flashcards in Genetic and Congenital Disorder Deck (321)
What are the 4 main stages of prenatal development?
1. Pre-implantation embryonic stage.
2. Germ layer formation.
3. Early organogenesis.
4. Definite organogenesis.
What is a congenital defect?
condition someone is born with.
What are the different types of congenital defects and what are the % they make up?
75% - is unknown causes.
20% - genetic diseases.
2% - chromosomal abnormalities.
2% - infections.
1% - chemicals.
What is a teratogen?
Environmental agent that interrupts the normal development of an organism
What are the three classifications of exogenous teratogens?
1) Physical teratogen
2) Chemical teratogen
3) Microbial teratogen
Give 3 examples of a physical teratogen?
2) corpuscular radiation(alpha, beta, gamma rays)
3) A bomb.
What type of teratogen is thalidomide and what does it cause?
It is a chemical teratogen that lead to babies being born with phocomelia (flipper-like arms or legs).
What was thalidomide prescribed for?
Preventing morning sickness.
What type of teratogen would viruses, bactria, protozoal parasites be?
What is FASD's?
Fetal alcohol spectrum disorders.
What are some symptoms of FASD's?
1) Small for gestational age
2) Small eye openings
3) Poor coordination
4) Hyperactive behavior
5) Learning disabilities
6) Developmental disabilities (speech and language delays)
7) Low IQ
8) Poor reasoning and judgement skills
9) Sleep and sucking disturbances in infancy.
What is TORCH(ES) syndrome?
a medical acronym for a set of perinatal infections (i.e. infections that are passed from a pregnant woman to her fetus).
When should we test for TORCH(ES) syndrome?
Early in pregnancy.
What will the T in Torches syndrome stand for and how do we get it?
Toxoplasma we get it from cat shit so stay away from Julie.
What will the O in TORCHES syndrome stand for?
Others that are less common like Epstein-Barr virus, Varicella virus, Listeria monocytogenes, leptospira.
What will the R in TORCHES syndrome stand for?
What will the C in TORCHES syndrome stand for?
What will the H in TORCHES syndrome stand for?
What will the (ES) in TORCH(ES) syndrome stand for?
What does rubella cause?
1) Small (microcephaly)/strucuraly abnormal brain
2) Heart defects.
What will Toxoplasma cause?
1) Microcalcification of basal ganglia and dilation of lateral ventricles (hydrocephalus)
2) CNS defects.
What will cytomegalovirus (CMV) cause?
The same as Toxoplasma.
What will herpesvirus affect?
1) CNS defects
2) Skin lesions.
What are 2 types of chromosomal anomalies?
Structural and numerical anomalies
What is Aneuploidy?
Loss or gain of chromosomes.
What are 2 types of aneuploidy?
Hyperdiploidy- 46+1 or 46+2.
Hypodiploidy- 46-1 or 46-2.
What is monosomy?
Missing one chromosome
What is Trisomy?
Gaining an extra chromosome (3 of one chromosome)
What is the most common risk factor for Down syndrome?
Paternal age increases risk of having a baby born with down syndrome