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Differential metabolic profiling of non-pure trisomy 21 human preimplantation embryos.
[monosomy 21]
To
investigate
the
metabolomic
signature
of
trisomy
21
preimplantation
human
embryos
by
a
noninvasive
approach
using
mass
spectrometry-
(
MS
-
)
and
nuclear
magnetic
resonance
spectroscopy-
(
NMR-
)
based
metabolic
profiling
platforms
.
A
total
of
171
spent
media
samples
were
collected
from
day
3
embryos
and
comparatively
analyzed
by
MS
analysis
(
chromosomally
normal
embryos
,
n
=
15
;
trisomy
21
embryos
,
n
=
15
)
and
a
matched
control
media
group
(
without
embryo
,
n
=
14
)
and
by
NMR
spectroscopy
(
normal
embryos
,
n
=
39
;
trisomy
21
embryos
,
n
=
35
;
monosomy
21
embryos
,
n
=
24
)
and
a
matched
control
media
group
(
without
embryo
,
n
=
29
)
.
IVF
clinic
/
preimplantation
genetic
diagnosis
(
PGD
)
unit
facilities
.
One
hundred
seventy-
one
spent
media
samples
obtained
from
human
IVF
embryos
from
patients
included
in
our
PGD
program
.
Metabolomic
profiling
of
embryo
spent
media
using
liquid
chromatography
/
gas
chromatography
coupled
with
MS
and
NMR
.
Comparative
identification
of
the
metabolites
present
in
the
spent
media
from
normal
versus
trisomy
/
monosomy
21
day
3
embryos
.
Two
metabolites
,
caproate
and
androsterone
sulphate
,
and
two
unknown
compounds
were
differentially
expressed
between
normal
and
trisomy
21
day
3
embryos
.
Furthermore
,
the
NMR
results
indicate
that
there
could
be
a
correlation
between
the
differences
found
between
trisomy
21
/
monosomy
21
and
the
normal
embryos
in
a
spectral
region
compatible
with
isoleucine
.
This
study
suggests
that
the
use
of
differential
metabolomic
markers
found
in
spent
media
from
preimplantation
embryos
could
be
a
feasible
method
for
the
detection
of
aneuploidies
before
ET
.
Diseases
Validation
Diseases presenting
"nuclear magnetic resonance spectroscopy"
symptom
acute rheumatic fever
canavan disease
monosomy 21
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