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9 Cards in this Set
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- Back
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MSAFP screening
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Maternal Serum alpha-fetoprotein); most sensitive between 16-18 weeks. AFP is HIGH with neural tube (anencephaly, spina bifida) and body wall defects (gastroschisis, omphalocele); LOW in triosmies but alone not sensitive or specific and not diagnostic; need to know gestational age, twin status, maternal health, status (diabetes), and race
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QUAD screening
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(screens for 4 MSAFPs); this screen increases sensitivity for LOW MSAFP; only 1/50 fetuses who test positive have trisomy, but much better than MSAFP alones
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Ultrasonography
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non invasive, high resolution of fetal echocardiograms; accurately estimate fetal age; at 6 weeks embryo seen; conditions with subetweenle findings may be missed; some diseases: neural tube defects, body wall defects, major organ abnormalities, oligo or polyhydramnios (too much amniotic fluid), major limb abnormalities, growth disturbances
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nuchal translucency
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(thickening of neck in DS—found using ultrasound)
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Genetic Amniocentesis
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—invasive to obtain fetal cells; enough fluid after 14 weeks to perform safely; most often between 15-20 wks (before 24—termination possible); fetal loss <0.5%; trauma and infection
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Transcervical Chorionic Villus Sampling
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invasive technique to obetweenain fetal cells, study chromosomes, DNA or biochemical profile of fetus; most often performed 10-13 wks but can be done as early as 9 weeks and any time after 13 weeks; fetal loss rate ~1%; risk of limb abnormalities (if done <10 wks) and infection
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Percutaneous Umbilical Blood
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sampling, perhaps the most invasive procedure to obetweenain fetal blood cells; study chromosomes, DNA, blook chemistries or biochem; needle under ultrasound guidance to obetweenain blood from umbilical vein; fetal loss rate 2%; rarely indicated needed or used except in special circumstances where amniocentesis or CVS not available
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some indications for offering amniocentesis or chorionic villus sampling
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: advanced maternal age, abnormal maternal serum marker test; family history of chromosome abnormality, genetic disease detectable by biochemical or DNA analysis, concerns of patient
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Pre implantation genetic diagnosis (PGD):
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Molecular Dx at 8-cell stage; implant unaffected embryos; requires IVF and is expensive.
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