--
Ph Coquel,MD
Isolated echogenic foci in the fetal heart as marker of chromosomal
abnormality
I. C. Huggon, A. C. Cook, J. M. Simpson, N. C. Smeeton* and G. K. Sharland
Ultrasound in Obstetrics & Gynecology 17 (1), 11-16
Abstract
Objective
To assess the effect of echogenic foci in the fetal heart on the risk for
Down's syndrome.
Design
Prospective evaluation of fetal echocardiograms at a fetal cardiology
referral center and systematic postnatal follow-up. A relative risk was
calculated from the prevalence of echogenic foci in fetuses subsequently
demonstrated to have trisomy 21 divided by that in normal fetuses. For a
subgroup of 548 fetuses with echogenic foci but otherwise normal detailed
anomaly scans, the expected number of trisomy 21 fetuses calculated from
maternal age risks was compared with the observed number to derive a
relative risk for isolated echogenic foci.
Results
Echogenic foci occurred in 905 of 6904 fetuses scanned, but after excluding
those referred specifically because of an echogenic focus and those with
heart defects, the incidence was 9.5%. Overall, echogenic foci were more
frequent in fetuses with trisomy 21 than those without by a factor of 2.93.
For the 548 fetuses with echogenic foci but otherwise normal detailed
anomaly scans, the actual number of trisomy 21 fetuses exceeded that
expected on the basis of maternal age risks by a factor of 5.54. Combination
with data from several previous studies suggests a consensus relative risk
of about 3.0.
Conclusions
Echogenic foci are associated with increased risk of trisomy 21 even when
present as an isolated finding. Their significance in an individual should
be interpreted in the light of prior risk assessment based on maternal age
and results of any first-trimester screening tests. We suggest that the
prior risk is increased by a factor of 3.0.
Brown DL Roberts, D. J.Miller, W. A.
J ultrasound Med 1994 13 613-6
>Isolated echogenic foci in the fetal heart as marker of chromosomal
>abnormality
Abstract
Echogenic foci within the left ventricle of the heart have been found in a
minority of fetuses and generally are believed to be a normal variant. The
cause and exact location of these foci have remained speculative, however.
We identified three fetuses with this sonographic finding in whom pathologic
correlation was available. The only consistent histologic finding present in
all three fetuses was mineralization within a papillary muscle; the chordae
tendineae were normal. One of the three fetuses had trisomy 21. Echogenic
foci within the left ventricle of the fetal heart represent papillary muscle
mineralization. Until more data are available to investigate any possible
association with aneuploidy, an echogenic focus in the left ventricle should
still be considered a normal variant.
>----- Original Message -----
From: "Terry J DuBose" <TJDuBose@juno.com>
To: "Multiple recipients of list ULTRASOUND"
<ultrasound@mail.medispecialty.com>
Sent: Sunday, March 11, 2001 3:45 AM
Subject: Re: what are the problems in Ob ultrasound
> Dr. Coquel, Thanks for the references... I found the following
> abstract of one of your references with a search from:
> http://www.obgyn.net/medline.asp. It is interesting. Unfortunately the
> other two did not come up in the search.
>
