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In cases with trisomy 18, early studies (9) indicated that free b-hCG
levels were reduced. Levels approaching 0.27 MoM which is very close
to the 0.33 average seen in the second trimester.
In cases with trisomy 13, the median free b-hCG MoM is decreased to
around 0.51 MoM, unlike in the second trimester, when levels are
normal to slightly elevated
In cases with Turner’s syndrome, freeb-hCG levels are not particularly
different from normal (1.11 MoM), as was the case in other cases with
sex aneuploidy (16).
In cases with triploidy, free b-hCG levels are supra-elevated (8.04 MoM)
incases with triploidy type I (17) and to a lesser extent for total hCG In
triploidy type II, levels are dramatically reduced (0.18 MoM), as is total
hCG
PAPP-A is a large (800 kDa) dimeric zinc containing
metalloglycoprotein synthesized by the
syncytiotrophoblast tissue of the placenta in an
initial pro-form approximately 80 amino acids
longer than the mature subunit
Although the biological function of PAPP-A is not
clearly defined, it has recently been shown to be an
insulin-like growth factor 4 (IGF4) protease (19) and
it is speculated that PAPP-A, therefore, may have
some form of regulatory role in the growth of the
fetus by controlling the amount of bioavailable IGF1
and IGF2.
with aneuploidy (including trisomy 21) during the early first
trimester. Subsequently, many studies have been published
which, although showing quite wide variation of median MoM,
have confirmed that levels are on average reduced to around
0.45 MoM.
• Micrognathia.
When specifically sought, the ventricular
atrium was identifiable and measurable 99%
of the time; the cisterna magna, 90% of the
time; and the cavum septi pellucidi, 95% of
the time. Because major CNS anomalies are
uncommon and these measurements afford
high sensitivity, an extremely low probability
(0.005%) of abnormal brain or spinal cord
development can be predicted if a normal-
sized lateral ventricular atrium and cisterna
magna are present.