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Noninvasive Prenatal Diagnosis of Hypohidrotic Ectodermal Dysplasia by Tooth Germ Sonography.
[oligodontia]
Purpose
:
Hypohidrotic
ectodermal
dysplasia
,
a
potentially
life-threatening
heritable
disorder
,
may
be
recognized
already
in
utero
by
characteristic
features
such
as
oligodontia
and
mandibular
hypoplasia
.
As
therapeutic
options
and
prognosis
depend
on
the
time
point
of
diagnosis
,
early
recognition
was
attempted
during
routine
prenatal
ultrasound
examinations
.
Subjects
and
Methods
:
Fetuses
of
nine
pregnant
women
(
one
triplet
and
eight
singleton
pregnancies
)
with
family
histories
of
hypohidrotic
ectodermal
dysplasia
were
investigated
by
sonography
between
the
20
th
and
24
th
week
of
gestation
.
Results
:
In
4
male
and
2
female
fetuses
reduced
amounts
of
tooth
germs
were
detected
,
whereas
5
fetal
subjects
showed
the
normal
amount
.
Three
-dimensional
ultrasound
evaluation
revealed
mandibular
hypoplasia
in
5
of
the
6
fetuses
with
oligodontia
.
Molecular
genetic
analysis
and
/
or
clinical
findings
after
birth
confirmed
the
prenatal
sonographic
diagnosis
in
each
subject
.
Conclusion
:
In
subjects
with
a
family
history
of
hypohidrotic
ectodermal
dysplasia
,
the
diagnosis
of
this
rare
condition
can
be
established
noninvasively
by
sonography
in
the
second
trimester
of
pregnancy
.
Early
recognition
of
the
disorder
may
help
to
prevent
dangerous
hyperthermic
episodes
in
infancy
and
may
allow
timely
therapeutic
interventions
.
