ch 53 Congenital anomolies

Card Set Information

Author:
rbeacr
ID:
139497
Filename:
ch 53 Congenital anomolies
Updated:
2012-03-04 10:34:28
Tags:
53 congenital anomolies
Folders:

Description:
congenital anomolies
Show Answers:

Home > Flashcards > Print Preview

The flashcards below were created by user rbeacr on FreezingBlue Flashcards. What would you like to do?


  1. how often are there congenital anomolies
    • 3 of every 100 births
    • 10-15% complicated by minor defects
  2. CVS
    • Chorionic Villus sampling
    • ultrasound directed biopsy of chorionic villi(frondosum)
  3. CVS performed
    • 10-14 weeks (MK 3-5 days)
    • earlier than amnio
  4. CVS benifits
    • done earlier
    • results in one week
    • more parent options from early results
  5. CVS procedure
    help of US
    • trascervically or transabdominally
    • US determined path of catheter in relationship to ut and cervix
    • filling and emptying bladder to determine route
    • US asess fetal age
    • US identifies uterine mass or problem with path of catheter
  6. Risk of CVS
    • .5-1% fetal loss
    • limb reduction defect if done before 8wk
    • RhoGAM to Rh-neg to prevent problems in subsequent preg
  7. Amniocentesis
    • first used to relieve poly hydraminos
    • predict Rh isoimmunization
    • document fetal lung maturity
    • now used for chromosomal, biohemical disorder
    • results in 1-3weeks
    • used for advanced maternal age
    • remove 20ml fluid
  8. Amnio done when
    15-20 weeks
  9. FISH
    • fluorescence in situ hybridization
    • limited analysis in 24 hrs for common chrom anomolies
    • 21, 13, 18, X and Y
  10. chances of down or chrom anomoly
    • 35yrs- 1 in 365
    • 21 yrs- 1 in 2000

    • any chrom anom.
    • 35yrs- 1 in 180
    • 21yrs- 1 in 500
  11. TORCH titers
    • amnio when known fetal anomoly
    • acetylcholinesterase and virtal sttudies
  12. after amnio and CVS
    • monitor fetal heartbeat
    • look for bleeding
  13. amnio in multiple gestations
    • determine if mono or dizygotic
    • how many sacs and fluid amount
    • amnio forom each fetal sac
    • idio carmine dye injected into sac to make sure it is not retested
  14. cordocentesis
    • fetal blood through needle aspiration of umb cord
    • check for chrom anom
    • processed in 2-3 days
    • but FISH is ususally used instead
    • usually used for transfusion Rh sensitivity to treat fetal isoimmunization
  15. AFP
    • Alfa-fetoprotien
    • major protien in fetal serum produced by yolk sac and later the liver
    • found in gi, liver, kidney, spine
    • transported by urination and reaches maternal circulation
    • sensitive until 20 weeks- after use acetylholinesterase
  16. MSAFP
    AFAFP
    • maternal serum AFP
    • amniotic fluid AFP
  17. high AFP
    • neural tube defects (anancephaly spina bifida)
    • opening defect
    • acrania
    • amount correlated to size of defect
    • omphalocele and gastroschisis
    • bladder cloacal exstrophy
    • ectopia cordis
    • limb wall defect
    • amniotic band synd
    • Increased with twins
    • obstructed gi tract
    • placetntal lesions
    • pckidney disesase
    • liver disease of the mother
    • trisomy 13, 18- if kidney effected
  18. MSAFP peak
    Increased normally with advanced gest age and peak from 15-18wks
  19. AFAFP through preg
    decreases with fetal age... opposite of mother (increase)
  20. low AFP
    • chrom anomolies 13, 18, 21
    • fetal death
    • incorrect dates
    • hydat. mole
  21. amnio risk of miscarriage
    1 in 200
  22. quadruple screen
    • used in early 2nd tri
    • blood test
    • better for finding tris 21 over MSAFP
    • use to be triple screen
    • AFP
    • HCg
    • unconjuagted estriol
    • dimeric inhin A (Downs)
  23. PAPP-A
    • pregnancy-associated plasma protien A
    • increase throughout preg
    • glycoprotein from trop tissue
    • 1st trimester to detect anomolies
    • decreased with aneuploidy
  24. Free Beta HCG
    • glycoprotien from placenta
    • assesed maternal serum in 1st tri for downs
    • used with PAPPA-A and Nuch trans for downs
  25. Chrom anomolies effect
    1 in ever 180 births
  26. nuchal translucency
    • 10-14 weeks, late first tri
    • thickened associated with 21,13,18, triploidy and turners synd
  27. Trisomy 21
    • 1.21 in 1000 births
    • downs
    • extra chrom 21
    • advanced maternal age
    • brachycephaly
    • epicanthal fold- over eye
    • flat nasal bridge
    • broad neck with extra nuchal skin
    • protruding tounge

    • heart defects, duodenal atresia, esphageal atreasia, anorectal atresia, omphalocele
    • short extremities
    • hypoplasia of 5th middle phalanx
    • palm crease, mental retardation
    • IUGR, pyelctasis, echogenic bowel, ventriculomegaly, no nasal bone 11-14wk
  28. Trisomy 18
    • Edwards Syndrome
    • 3 in 10,000 births
    • extra chrom 18
    • dolichocephaly, microcephaly, hydroceph, no corpus callosum, cerebellar hypoplasia

    • low ears, microganthis, cleft palate, clenched hands, talpies (club foot), rocker bottom feet
    • spontaneous abort or die in 21st yr of life
  29. Trisomy 13
    • Pataus syndrome
    • 1 in 5000 to 20000 births
    • extra chrom 13
    • holoprosencephaly
    • agenesis of corpus callosum
    • hypotelerism cyclopia
    • cleft palate microganthia
    • hear defects
    • omphalocele
    • polydactyly
    • club foot (talpies)
    • rockerbootom feet
    • 80% die in first month
  30. triploidy
    • 1 egg 2 sperm
    • most spontaneously abort
    • dandy walker malformation
    • hypertelorism
    • cleft lip
    • microganthia
    • ambig genitalia
    • talpies
  31. Turners Syndrome
    • 45X no sex X or Y chrom
    • 1 in 2500 births
    • elevated msafp when cystic hygroma present
    • renal anomolies
    • short femur
    • most spont abort
    • immature sex development in women who survive
    • web neck, shield chest, wide nipples
    • hrt for sex development

What would you like to do?

Home > Flashcards > Print Preview