Kaplan OB/Gyn
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- Karyotype associated with Klinefelter syndrome
- 47,XXY
- When is PUBS performed?
- after 20 wks
- At what GA is amniocentesis peformed when for Rh isoimmunization testing?
- after 24 wks
- What is the accuracy of gestational dating at GA < 12 wks?
- +/- 5 days
- High levels of AFP on triple screen
- suggest increased risk of neural tube defects
- What is the triple screen?
- it is a SCREENING test (not diagnostic) for genetic abnormalities (esp. trisomy 21) and neural tube defects
- At what GA is CVS performed?
- between 9 and 12 wks
- Name the main advantage of CVS:
- karyotyping available at a very early age (earlier than amniocentesis)
- What is the most common aneuploidy?
- trisomy
- At what GA is amniocentesis peformed when for genetic testing
- 15-20 wks
- What is the optimal GA for IDing fetal anatomic structural anomalies by US?
- 18-20 wks
- Aneuploidy
- numeric chromosome abnormalities in which cells do not contain 2 complete sets of 23 chromosomes
- Pregnancy loss rate of amniocentesis:
- 0.5%
- Mosaicism
- presence of 2 or more cytogenetically distinct cell lines in the same individual
- What findings on triple screen suggest increased risk of Down's syndrome?
- high bHCG and inhibin levels with low AFP and estradiol
- Pregnancy loss rate of fetoscopy:
- 3-5%
- What 3 levels are measured in a triple screen?
- 1) MS-AFP; 2) bHCG; 3) estradiol
- 2 findings of Turner's syndrome on US
- 1) nuchal skin fold thickening; 2) cystic hygroma
- Pregnancy loss rate of PUBS
- 1-2%
- Name a common polyploidy
- incomplete molar pregnancy in which an egg is fertilized by 2 sperm (--> triploidy, 69 chromosomes)
- Percutaneous umbilical blood sampling (PUBS)
- sonographically guided transabdominal aspiration of fetal blood from the umbilical vein
- 4 Indications for PUBS:
- 1) fetal karyotyping; 2) IgM antibody detection; 3) blood typing; 4) intrauterine blood transfusion
- Indications for genetic counseling
- 1) AMA; 2) multiple fetal losses; 3) previous child --> neonatal death, mental retardation, aneuplody, known genetic disorder; 4) family history: genetic diseases, birth defects, mental retardation; 5) abnormal prenatal tests: triple screen, US; 6) parental aneuploidy
- Chorionic villous sampling
- aspiration of placental tissue precursors under sonographic guidance for fetal karyotyping
- Amniocentesis
- transabdominal needle withdrawal of amniotic fluid under sonographic guidance
- Most common cause of aneuploidy:
- nondisjunction
- At what GA is amniocentesis peformed when for fetal maturation testing
- after 34 wks
- What is added to the triple screen in the quad screen?
- dimeric inhibin A (DIA)
- What is the pregnancy rate loss with CVS?
- 0.7%
- Polyploidy
- numeric chromosome abnormality in which cells contain complete sets of extra chromosomes
- Name 3 general indications for amniocentesis:
- 1) genetic testing; 2) Rh isoimmunization; 3) fetal lung maturity studies
- 2 indications for fetoscopy
- 1) fetal tissue biopsy; 2) coagulation of placental vessels in twin twin transfusion syndrome
- What is the genetic defect associated with cri du chat syndrome?
- deletion of short arm of chromosome 5 (del 5p)
- Twin twin transfusion syndrome
- complication of pregnancy with high morbidity and mortality that occurs when two or more fetuses share a common (monochorionic) placenta; the connection in circulatory systems results in the donor twin pumping blood to the recipient twin without receiving blood in return
- Karyotype associated with Turner's syndrome
- 45,X