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Monozygotic twins discordant for monosomy 21 detected by first-trimester nuchal translucency screening.
[monosomy 21]
Chromosomal
abnormality
in
one
fetus
of
a
monozygotic
twin
pregnancy
is
rare
,
and
discussion
of
prenatal
detection
of
such
a
case
offers
some
insight
into
this
clinical
problem
.
A
28
-
year
-old
gravida
1
had
ultrasound
screening
at
11
weeks
of
gestation
that
revealed
a
monochorionic
,
diamniotic
twin
pregnancy
with
increased
nuchal
translucency
(
7
.
7
mm
)
in
one
fetus
.
Subsequent
evaluation
showed
one
45
,
XY
,
-
21
karyotype
and
one
normal
male
karyotype
.
The
pregnancy
was
monozygous
by
DNA
analysis
.
The
affected
neonate
died
5
minutes
after
delivery
of
both
twins
by
cesarean
.
Monochorionic
twins
discordant
for
fetal
abnormalities
can
be
evaluated
with
molecular
analysis
.
Study
of
such
cases
may
reveal
the
extent
to
which
an
early
diagnosis
can
lead
to
therapeutic
interventions
to
support
survival
of
the
viable
twin
.
Diseases
Validation
Diseases presenting
"diamniotic twin pregnancy"
symptom
monosomy 21
pyruvate dehydrogenase deficiency
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