J. Gillen-Goldstein, H. Roque, B. K. Young
Steroidogenesis patterns in common trisomies
Objective: By determining the early patterns of steroidogenesis
in the most common aneuploidies, we
have shown that there are differences between aneuploid
and euploid pregnancy steroidogenesis patterns.
We hypothesize that there are differences in steroidogenesis
between specific trisomies, as well.
Methods: The records of all patients with a cytogenetic
diagnosis of aneuploidy were studied. Serial data on
progesterone(P), estradiol(E2) and beta-HCG(bHCG)
was collected in the first trimester of aneuploid pregnancies.
A matched group of normals at the same gestational
ages was used as a control group. The specific
trisomies of the above group were catalogued.
Results: 31 aneuploid pregnancies were reviewed for
progesterone, estradiol and beta-HCG in the first trimester.
Data was available for three or more patients
with trisomy 16, 18, 21 and 22. Serial measurements
between 5 and 10 weeks of pregnancy were obtained
for P, E2, and bHCG. Gestational age was determined
by LMP and serial sonograms. The progesterone, estradiol
and beta-HCG levels were evaluated by calculating
the rates of change between 5 and 10 weeks, rather than
threshold values. The natural log of the values was used
to plot serial data and reduce scatter due to the large
natural variation in values between patients. The rates
of change of P, E2 and b-HCG in the trisomic pregnancy
groups were compared to matched normal pregnancies.
The slopes of the curves for the trisomies and euploid
pregnancies were calculated and compared. We determined
that the rate of change of HCG for each of the
trisomies was no different from euploid pregnancies,
which is consistent with earlier data. In examining estradiol,
trisomy 22 did not have a statistically different
pattern of steroidogenesis, where trisomies 16, 18 and
21 were different than euploid (p < 0.05). With progesterone,
trisomies 16, 18 and 22 had statistically different
rates of change (p < 0.05), however trisomy 21 did not.
Conclusions: As we have shown, in pregnancies with
aneuploidy, there is a different pattern of steroidogenesis
from euploid pregnancies. The difference is detectable
in the first trimester by serial measurements of P
and E2. In determining steroidogenesis in trisomies 16,
18, 21, and 22, we demonstrate that there is a difference
in progesterone and estradiol levels over 5 to 10 weeks
among the trisomies that can assist in the diagnosing of
abnormal pregnancies in the first trimester. Furthermore,
by looking at the rates of change of the individual steroids,
the specific aneuploidy may be suspected. A large
prospective study may reveal the clinical utility of these
observations for early prenatal diagnosis of aneuploidy
or probable spontaneous abortion.
Journal of Perinatal Medicine, Walter de Gruyter
Print ISSN: 1619-3997
Volume: 30, 04/2002
Pages: 132 - 136
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