3 - Obs - Screening tests - Chromosomal Abnormalities Flashcards Preview

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Flashcards in 3 - Obs - Screening tests - Chromosomal Abnormalities Deck (4):
1

Downs - Trisomy ?, ? common among live births. Result of non-dysjunction at ? , occasionally (6%) from ?chromosomal ? in parents. More common w ? maternal age. Affected infant has ?retardation, characteristic ?and often (50%) congenital ?disease. Unless due to parental balanced translocation, recurrence risk is ? and determined largely by maternal ?.

21
most
meiosis
balanced
translocation
advancing/incr

mental
faces
cardiac
low
age

2

Other chromo abnorms

Trisomy ? (Edward’s) and Trisomy 13 (?) more common w ? maternal age. Ass w major ? defects, and affected fetuses ? in utero or shortly after ?. Sex chromosome abnormalities inc ? syndrome (47XXY) – ? w normal intellect, small ? and infertile. ? (single X Cr: X0) – female, ? , normal intellect.

18
patau's
incr
structural
die
birth
Klinefelter's
males
testes
Turners
infertile

3

What is the triple test ? when is it reserved for ? why?

blood at 16w inc AFP, hCg, oestriol
reserved for after 14w when nuchal USS not available

4

What signs on USS incr risk of Downs? (4)

thickened nuchal translucency
tricuspid regurgitation
absent or shortened nasal bone
structural abnorms

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