Congenital Malformation Flashcards
Phocomelia
Seal like limbs
Amelia
Absence of 1+ limbs
Meromelia
Partial absence of a limb with attachment of hand to upper limb
Warfarin
Oral anticoagulant
Tetratogen
Symptoms of congenital rubella syndrome
Microcephaly Deafness PDA Cataracts Hypoglycemia Intellectual impairment
Syndromes
Multiple malformations occurring in the same individual for which a cause is known
Macrosomic
Weighing 10+ lbs at birth
Retinoic acid
Potent teratogen used to treat cystic acne
PKU
Inability to break down phenylalanine therefore it accumulates
Amniocentesis
Withdrawal of amniotic fluid transabdominally under ultrasound guidance
Performed at 14-16 weeks
Diagnostic test to detect chromosome abnormalities
Klinefelter Syndrome
Male with extra X chromosome
Polydactyly
Extra fingers or toes
AFP
Alpha fetaprotein
Abnormally high or low levels may indicate an abnormality
Neural tube defects
Neural tube fails to close and remains in communication with amniotic fluid
(Increased AFP can indicate NTD)
Anencephaly
Brain and skull fail to develop normally; death after birth
Myelomeningocele
Defect low in vertebrae column through which the spinal cord and its meninges may be extruded
Thalidomide
Sedative for pregnant women marketed in 1960s
Teratogen causing limb abnormalities
Omphalocele
Intestine and abdominal organs are outside the body
Indicated by increased AFP
Gastrochisis
Defect in the anterior abdominal wall through which the abdominal contents protrude
Indicates by increased AFP
Extrophy of the bladder
Protrusion of the urinary bladder through a defect in the abdominal wall
Indicated by increased AFP