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9 Cards in this Set
- Front
- Back
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what is the sensitivity of the quad screen in diagnosing down syndrome?
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80% between 15-20 weeks
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first trimester screening for down syndrome?
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combination of pregnancy associated plasma protein A (PAPP-A) and BhCG-- sensitivity = 80% or better
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edward syndrome
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trisomy 18- clenched fists, overlapping digits, and rocker bottom feet. cardiac defects including VSD, TOF, omphalocele, congenital diaphragmatic hernia, neural tube defects, and choroid plexus cysts
- most die within the first 2 years - often dx by US |
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patau syndrome
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trisomy 13- holoprosencephaly, cleft lip and palate, cystic hygroma, single nostril or absent nose, ompahalocele, cardiac abn including hypolastic left heart and limb abn including club foot and hand, polydactyly and overlapping fingers
- most die within 1 yr - often dx by US |
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Turner syndrome
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45 X
-female, short stature, webbed neck (cystic hygroma), low set ears, low posterior hairline, epicathal folds, wide carrying anlge of the arms, shield chest and wide-set nipples, short 4th MCP, renal abns, lymphedema of ext at birth, coarctation of the aorta |
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Klinefelter syndrome
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47 XXY
small ,firm testicles, fibrosis of seminiferous tubules, infertility, gynecomastia, mental retardation |
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when does organogenesis occur?
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3-8 weeks after conception (5-10 weeks gestational age)
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when do the majority of neural tube defects occur?
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by 4 weeks after conception
(6 weeks gestational age by LMP) |
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What lab abn indicates likely neural tube defect?
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increased alpha fetoprotein
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