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Hello.
You know what I was doing?
A United States Army Medical Department Continuing
Education Program,
the 22nd Annual Armed Forces Seminar on
Obstetrics and Gynecology.
Prenatal detection of Genetic Disorders
with Henry Nadler,
M D professor and chairman of Pediatrics,
Northwestern University.
The slide is a little bit out of date that cannot be made
fast enough.
Thio Keep up with him.
The number is well over 2000.
Now,
pregnancies have been monitored
to detect fetal
abnormality.
The single most common group is an
unquestionably will remain,
certainly for the foreseeable future.
Unless some overwhelming new development in
screening for biochemical disorders occurs.
And I personally do not believe that it will,
uh,
theme.
Most common indications are gonna be for chromosomal
defect.
And clearly the most common
indication single one within that particular
group is going to be maternal age.
If you took the numbers that I told you about and you
would Thio say that you wanted to screen
women past the age of 35 or 36
those women who wish to be screened for
chromosomal defects,
one could make a very significant argument that the
yield would be quite high if you screen women
above 40.
You're going to find,
in fact,
that you yield for a chromosomal abnormality is
probably gonna be in the order of about 2%.
If you screen above 36 or 37 will probably be about
1%.
This means down syndrome and other chromosomal
aberrations Out of this group,
you see,
roughly nine out of 350
were detected.
So the numbers that I'm talking about on an ideal fashion
really are not significantly different.
There is some argument as to what the ages that one
would consider a maternal age indication.
I don't think that's particularly important.
I think that you can choose whichever you prefer.
But you should recognize this phenomenon,
and I personally believe that it should be presented to
parents.
Parents can opt as to whether or not they like to have this test
performed,
but I think it should.
They should be made aware that this is so.
And as a matter of fact,
I think even if you might not like to do it,
you may,
in a medical legal point of view,
in fact,
be placed in doing it.
There is one lawsuit which is about to be ruled on,
and it's unquestionably is gonna be removed.
Is unquestionably going
thio come out?
I think that the physician
will be judged guilty of malpractice because
ah,
year and a half ago in a large
center in the United States,
such a physician did not make a wear
to a 45 year old woman.
That,
and their synthesis wasn't available.
Technique.
She gave birth to a baby with Down Syndrome and
has brought a lawsuit against the obstetrician from
not informing her off the availability of
this test.
That's an unfortunate way to practice medicine,
But it has become enough of
yeah,
public knowledge,
at least about this particular test,
that it's likely to be a fuzzy area for a
while.
The second group,
which will continue to be a fairly high indication
Ah,
women who have previously given birth to Children with Down syndrome,
who,
even though the recurrence risks are essentially usually less than
1%.
Unless there 38 or 39 or 41 it would be
three times.
Whatever the number I gave you would be,
uh,
these women,
even though the overwhelming odds are that the
baby will be perfectly normal are going to continue to
request and the S and thesis.
That's because of the fact that they have already had a baby with Down
syndrome,
and,
uh,
they really will have an amniocentesis for
two reasons.
Some unquestionably would opt to terminate the
pregnancy if they found that the baby were affected with Down
syndrome.
On the other hand,
some who might not even do that would be willing
to take a gamble at the risks of the procedure.
And I'll get into those in a minute just on buying the
last five months of their pregnancy.
Peace of mind,
knowing that they were in fact really not carrying another baby with
down syndrome.
So I think one can make a logical argument that although the risks are
small,
but they certainly are there,
that the
ability to reassure the family perfectly well in
a significant number of instances may well be itself an
indication for MGs and pieces X linked
disorders.
The majority of those will continue to be hemophilia,
excellent muscular dystrophy and a whole host
of other ones,
which will be extremely rare on a
whole variety of metabolic disorders,
and I will give you an example of many of the metabolic disorders and
how they can be done again.
The important thing is not to try to remember
here each of the disorders that can be detected.
But when you do have a patient with an unusual metabolic
disorder,
etcetera,
find out.
You can just pick up a telephone and call any number of centers,
which would be readily available to you.
The information.
Is this a disease that is detectable in utero?
Yes or no.
It's the test of ballot,
one ISAT reliable on.
Then you can handle particular
situation.
You can see in this group obviously the highest
yield about normal in terms of potential,
because most of the metabolic disorders that we talked about today are
inherited as either excellent recessive on the overwhelming
majority them at the present time order somewhat
recessive disorders.
Now I haven't gotten to a whole other group,
which we'll get to later Now,
the potential risks of the procedure of the ones which are well
known to you obviously infection
abortion in terms of the
fetus.
Maternal bleeding,
the possibility of Rh sensitization,
uh,
intra uterine puncture of the fetus.
Suffice it to say the experience of amnesty thesis
early in pregnancy up to the present time.
And there will be a study completed by the end of this
year in which eight centers in the United
States have done a prospective collaborative
study with controls.
Age matched parody matched income
matched etcetera to determine the accurate risks to
mother and fetus of amniocentesis early in the
second trimester of pregnancy.
At the present time,
that does not appear to be any significant increase or any
increase,
really in congenital malformations of the fetus
or of the newborn.
And the only possible
thing,
at least at a preliminary plants,
is that the incidence of spontaneous abortion may be somewhat
higher in our own group.
And I can only talk about our own groups experience at the present
time over 500 pregnancies that have been monitored
since we've been doing a control study.
It's interestingly enough in our center,
uh,
or in the data that we've collected in our center,
women in the control group managed so far
had a higher incidences of abortion,
uh,
than the control group,
then the group having,
um yes and pieces.
There is very poor data in the obstetrical
literature.
At least faras.
I'm concerned as to what the accurate risk
of spontaneous abortion in the second
trimester of pregnancy is.
There is reasonable data about the first trimester of a very poor
data about the second,
including the collaborative study.
Now,
theoretically,
the way one could go about decreasing the
risk of maternal
fetal bleeding,
fetal puncture,
etcetera,
eyes on this particular technique.
And this is a slide of Dr Valenti.
And I guess Dr Valenti ran a session here two years
ago.
Uh,
I'll take a little bit of
the other tack with this procedure.
This is an ultrasonic localization,
theoretically of the placenta,
so that one could very niftily get the
needle around it,
miss the fetal head and put it in to the present
time.
Uh,
if one says that this is a reasonable technique to
use for this procedure early in pregnancy,
I think it is,
but not for the reasons that it's been originally proposed.
The incidents in those groups who've done it a bloody taps
is identical to the groups who
don't use it.
There's no decrease at all.
There's been no difference in the ability to obtain amniotic
fluid I think the one rial
plus that it has is that it has the ability to
localize a twin
pregnancy,
which those of us who don't use it have blown in each
pregnancy in which we've done.
In an instant thesis,
uh,
one potential disadvantage was published in
a might as well get controversial and extremely poor.
Article in The American Journal of Obstetrics and Gynecology about the
risks of them use and thesis early in pregnancy
that appeared a couple of weeks ago by the group
from Denver.
They suggested in this as faras the ability to culture
the cells that they had some or greater difficulty
when ultrasonic localization of the placenta was
performed prior to the analysis.
This article,
By the way,
which is entitled,
I Think the Hazards of mes and thesis early in the
second trimester or something else,
I think we'll give you,
if you will look at it.
A nada quit example of how difficult it is to interpret
any kind of data as to the risk figure
almost all of the things that they listed his
complications in almost every instance.
When they did the end their synthesis,
they had a marked abnormality when they got that original
fluid brown,
black amniotic fluid.
Uh,
no fetal heart tones,
etcetera,
which are obviously fetal deaths.
Prior to the M.
E s and thesis,
we routinely recommend that this be done at roughly 15
weeks of fetal gestation.
Uh,
now,
this could be quarrel with me 14 to 16.
It really doesn't make much difference.
The point is that you'd like an answer in roughly
three or four weeks,
which you should get in the overwhelming majority of instances.
And conceivably,
this will give you some time in those states in which
termination of pregnancy after 20 weeks is a problem
on if any of you are practicing in other
countries,
this may be a really legal restriction.
Here's an example of a fetus with down
syndrome that really doesn't show you very much.
So just go on.
Here's one which again shows you
e don't know if this projects very well the
horizontal palma crease at 19 weeks,
uh,
in a fetus with down syndrome,
and this will show you the difficulties when
one monitors routinely for chromosomal
aberrations.
This fetus on this is,
I think a 20 week gestational fetus,
uh,
was detected under routine screening
for a woman of advanced maternal
age.
In this particular instance,
the amniotic fluid cells were
cultivated in a chromosome.
Elaboration a 47 x
y y carry a type
was determined.
This,
as you remember yesterday,
was the one that Dr Hershon referred to as being
one conceivably associated with tall stature and male
criminality.
Well,
and with criminal behavior,
abnormal social behavior.
Now,
if one reviews the literature is Doctor Hershon tried to do
yesterday,
we really don't know what we're talking about with this disease.
The ascertainment Aziz,
how this disease was discovered in maximum security
prisons obviously placed a huge bias on it.
Now,
when it will be that there is some relationship between this
extra Y chromosome and psychosocial abnormal
psycho social behavior.
This all of this information was presented
to the parents who in this particular
instance,
phrased it very nicely.
Uh,
I think in an interesting way,
at any rate that they did not wish to do a control study
on that particular child and up
to terminate the pregnancy and did.
The important point here is that unlike the women who have
already had a baby with down syndrome.
Unlike the people who are known carriers of
chromosomal defects or of water,
some will recessive disorders you have here
a patient population who doesn't really know anything at
all about Mangal is,
um,
they come in and the obstetrician or somebody informs
them,
or they pick up the Ladies Home Journal or Good
Housekeeping and they talk about intruder in diagnosis.
And do you know that 42 year it increased?
They risk of having a baby with Mongol is,
um,
and the mother says,
Well,
that's a horrible thing.
I'd better have that test.
But she,
in fact,
didn't know anything at all about the disease.
And so when you start detecting disease,
you suddenly have a population which is not based and not
has has really not even thought of the majority of the
therapeutic abortion.
They don't know anything about the disorder.
And so you're placed in the position of having to describe the
findings of on a routine screening procedure of a
laboratories test
with very difficult implications,
implications which may be a bit more difficult to handle,
and some of the problems that Dr Davidson pointed out about
screening for disease and the neonatal period about
what nobody is really sure about,
so that this will be a real problem for you.
And I think that if you do broach this and I think that you should broach this
with increasing maternal age with patients that you
describe what could be done,
what the potential risks are the procedure and you ask them point
blank.
You know,
what do you think you would do if you had an affected child?
And the answer is that most times most patients don't
really know the answer,
so you can't tie them into a yes or no.
Answer is.
Some people have suggested that you do not do the
procedure unless they tell you right then and there that they will have a
pregnancy terminated.
Now here's an example of one of the biochemical defects that can
be detectable in utero.
The reason for showing it
is because I think it's we've learned a great deal
about the potential problems of interview during diagnosis
from this disease.
This is a baby who died at a little over three months
of age with a large heart big liver.
If you look at the cross section of the heart.
You'll see the glycogen is the
positive and tremendous amounts within the heart.
This is an example of so called type two
glycogen storage disease of Pompeii's disease.
It's an absent of a particular
acid,
multi,
uh,
enzyme,
which is present within the license zones.
And so the glycogen accumulates and can be broken down.
You can use a histological techniques to
make this diagnosis,
as we've done a number of years ago,
and here you'll see an amniotic fluid
cells.
Large double
membrane bounded,
presumably license owns with increased amount of like
kitchen.
Now in about 1967 or 68.
I think we reported the first instances of the intra uterine
detection of this disease,
and the first pregnancy that we monitored very
nicely did all the things that we would like it to dio.
The enzyme,
which we knew was present in amniotic fluid,
was absent.
It was absent in uncultured cells.
Then,
if you grew the cells up in culture,
you could then make the diagnosis and confirm it.
And so we predicted that one could use
probably amniotic fluid alone are
uncultured cells,
but we suggested that until a tely east were a little bit
cautious that one should rely on cultivated sells for
the diagnosis.
Since that time,
I think six or seven instances we have detected
Pompey's disease in utero,
and in none of them was there ever an
absent Alfa glucose ideas in the amniotic
fluid again?
Uh,
needless to say,
when the second one came around where it was present and then we didn't find any
activity in the cells,
we were really quite concerned about it.
And so they started us off on a major research project,
which is just a nice way of saying that we probably should
have done it before we did.
The first study on what we were able to
show was that the enzyme which was present in amniotic
fluid,
was in fact,
not even the enzyme that had anything to do with the disease it
interacted with the substrate was just another form.
And I think if people try to sell you and we'll come back to this a little bit
later on using cell free amniotic fluid
for the diagnosis of biochemical defects,
at least using enzyme assets,
we best know first of all,
what the normal levels are.
That's easy whether that form of the enzyme has
anything to do with the disease,
whether it is a fetal form of an enzyme which has nothing again
whatsoever the disease but would be confusing
you.
Now here's an example.
We showed you a picture before of a child with Hurler
syndrome.
One of them You go Polish sacra doses.
This is perfectly evident.
See,
big liver,
big spleen,
protruding abdomen,
the claw like hands again,
This disorder can be screened in a variety of ways in
utero.
The easiest way at least,
I think,
at the present time.
Although this will not be three easiest way within a matter of
four or five months from now is to
just grow the cells,
exposed them to a sulfate labeled compound,
and the cells from patients with this disease accumulate
uh s 35 labeled compounds that are
abnormal.
And if you want to confirm it,
you just take a normal and mix it and you can correct the
defect.
If you take another heroism,
mix it,
it stays abnormal.
This is the easiest one to screen for the Mucha Polish sack
right disorders,
in which known abnormalities occur in many of them.
in cell culture.
It will not be the procedure of choice,
though specifically for Hurler syndrome war hunter
syndrome in a matter of a matter of months.
As for almost all of these diseases,
the precise by chemical defect is known,
and secondly,
that we do have.
There is now available artificial substrate or made
available in the last month or so,
which will convert this into a disease that could be
done or handled in very few laboratories in 12
laboratories with a great deal more,
um,
larger numbers.
At any rate,
there are other techniques that can be used here.
Amniotic fluid cells were a history.
Chemical technique is used.
And here you see,
read the blue materialism beta,
go outside a scram mules here the cells where there's
no beta Glock decide days.
Remember that little baby I showed you with generalized cannula
psychosis with the large L Villa
hypertrophy.
This shows you that this fetuses,
in fact affected with the disease it takes a matter of a week to
do it after the animals and thesis.
Uh,
here's a slide of Dr Davidson's
demonstrating the absence of the enzyme
uh,
Hexcel cemented a say,
uh conceivably a fetus with haystacks
disease.
Uh,
Dr Davidson was a little bit for hurry,
and I'm not quite sure.
He mentioned one of the confusing factors about this disease,
which isn't so nice.
It is nice that you can screen the population for carrier
status.
Those were two carriers are at risk you can provide,
interviewed her and diagnosis.
The little thing,
which is the hooker,
as it always is,
is that there are at least two families described now who don't
have any heck so cemented,
they say,
in which the patient's perfectly normal doesn't have the
disease.
So if somebody would routinely screen,
you could get yourself into a bit of difficulty with this.
Despite that,
I would still think it's a perfectly reasonable test to
use in pregnancies at risk for this disease.
And there are a whole host of other license on the enzyme deficiency
diseases where qualitative differences as
well as quantitative differences can be used test.
Um,
uh,
now that this next disease is one
where I think the questions,
uh,
that are raised as to whether or not this is a disease
capable or important for intrigue and diagnosis,
uh,
raises.
I think some interesting questions.
This baby has died five weeks of age,
totally preventable disease.
If the physician caring for the infant had even thought of it,
this baby was probably joined.
Us had vomiting,
diarrhea,
big liver of explain.
Probably died of E.
Coli.
Septicemia had total reducing
substance in his urine when the baby,
when she was fed a galactus
containing formula,
which is routine milk.
Most of the perfect
preparations that have given this baby has
died of Galactus e mia and still one out of every five
infants in this country in which this diagnosis is
one can clearly show that the diagnosis is missed and the
infants died.
Now,
this is an enzyme deficiency disease.
The enzyme assay is easy to do.
You can tell if a hetero zygotes around and you can detect it in you
to rose we first did in 1968.
Now this disease,
unlike fennel keeping area,
does not have all the squabbles relating to
therapy that have permeated literature in that
disease.
And the reason for it is I think most everybody would
accept the fact that dietary restriction of
galactus for these infants in the newborn
period and for the first certainly years of life may be
lifesaving.
Whether it needs to be carried on later in life is
unknown as it is in federal keep Nouriel.
But I think there's no quarrel that this is a life threatening
therapeutic approach.
Therapeutic model in terms of this disease,
albeit some patients have escaped to adulthood and
then been detected having galactus galactus Siemian.
Invariably they had vomiting,
diarrhea,
and somebody substituted a formula of some kind that
did not contain lactose or galactus.
Now I think that mhm there
are in this slide demonstrates what I consider to
be,
uh,
absolutely critical point in terms of intra uterine
diagnosis and maybe more importantly,
in terms of what were first beginning to appreciate
about inborn errors of metabolism,
if you will,
and the fetus this is a
photograph taken at the time of
I may have put the wrong one in there.
I'm sorry.
The photograph that was supposed to be shown that may may not be it,
I'm not sure,
but Isa cataract there's no question about
that,
but cataract at in in the
neonatal period of an infant with Galactus e
mia.
Now what is this telling you there are a number of such infants have been
described.
This tells you,
as have all of the license on the enzyme
deficiency diseases,
for example,
in which the fetus has been studied during
the second trimester
that the fetus does not escape all of the
consequences of an inborn error of metabolism during
intra uterine life.
Just because the mother may go around metabolizing that
particular substance every one of the
license on mill enzyme deficiency diseases studied in
fetuses at 20 weeks of gestation have Aled
demonstrated abnormal accumulation of material.
In the case of the Galactic Simic,
you have the child with Galactus senior who may have
cataracts.
This may account for why all of the P K used don't in
fact get up to with optimal therapy the
identical like you of their siblings
and I.
It's because the fetus does,
in fact suffer the consequences of his or
her genetic disease.
And this probably in the long run,
is going to be one of the most important aspect
of what we talk about for intra uterine diagnosis at the
present time.
And that is the potential for really studying
human fetal development.
Both abnormal and normal and conceivably developing
therapeutic models.
Galactus e mia might be one in which,
certainly,
dietary restriction of Galactus when the fetus were shown to
have Galactus senior would clearly be a
justifiable procedure much easier to do
than that of restricting fennel.
Allan E uh,
one would have very little problems before one gets the idea
that these ideas airy,
that new a unique There's a book published in
1902 that I think most obstetricians would
read.
I had an opportunity to read it a couple of months ago.
It's called Antenatal Diagnosis by
Ballentine,
who is a Scottish
obstetrician pathologist who
described all of what's known about intra uterine diagnosis at
the present time and pointed out that the only thing that had really been
accomplished the major accomplishments of medicine in
the,
uh,
19th century were the the
ability to render
childbearing in case of for the mother
a reasonably safe procedure.
And second was the development of the
pediatrician.
And he pointed out that clearly the major development of the
20th century was gonna be the development of
physicians and people who would start taking care of the fetus
during intra uterine life on,
He pointed out all of the goodies that we're talking about now.
80 years ago.
These next few slides will list and probably of
more benefit for the audiovisual people than
the offer will.
Have you been trying to remember them?
The disorders which have been detected in in you carol
thes air using cell free amniotic fluid
alone Katrina genital syndrome cannot be
accurately detected in mid trimester
pregnancies.
One could get a reasonable idea.
Latent pregnancies toe One or not,
the fetus is affected,
and encephalitis and Milo Meninga Seal
have been detected on the basis of
elevated Alfa fetal protein.
And there have been a
number of instances,
and where this has been used for diagnosis,
it's still a little bit not sure as to what it means or how it
is.
It's even been elevated in the maternal serum,
Uh,
when the mother was carrying a baby with
this at risk for anencephaly and
with anencephaly.
So I think we routinely would suggest that
certainly this might be a reasonable procedure to start
to entertain now,
in terms of intruder,
and management will come back to it again because there are other techniques which
may be feasible,
the ones at the bottom of Mucha Polly sacharow
disorders and I think we need to pay attention to the particular
Here are others we heard about I Cell disease,
where the amniotic fluid license on hydra
laces maybe increased myeloma legacy which will come
back to again later on amino acids,
five hydroxy Indal,
acetic acid and abnormal spectrum photo
metric absorption is have been described.
I think they're a little bit questionable as to how reliable they are.
Neonatal graves,
disease,
abnormal PBS and Taste Sachs
disease.
There are other diseases very few,
uh,
in which the uncultured amniotic fluid cells have been used and the
problems here are those of
getting some red cells and white cells
in with the preparation,
the ability in the fear of
using up some of these cells.
Why one would what
needs to at any rate,
grow the cells long term and culture.
But again have been a number of techniques used the
easiest ones that the excellent process of disorders where
I think it is reasonable to do sex chromosome y
chromosome fluorescence and then confirm it with
chromosome analysis on the cultivated cells,
there are a whole host of disorders now which have been
detected.
Uh,
and many of these are really,
in fact,
reliable.
I think cystic fibrosis is not a reliable test
at the present time for detecting the disease in
utero,
and hopefully it will be within less than a year,
and the one at the bottom certainly is not.
But the others are relatively easily done in
laboratories with experience.
They are almost,
or a significant number of this storage diseases
and the degenerative neurologic diseases
can be detected in this fashion.
And I think this is the last one in the Syria's which brings
the list.
I think,
basically up to date,
there may be one or two that are not on this list,
but they're essentially all of them.
Uh,
the point is here again that there are a variety of techniques that can be
used accurately,
foreign treater and detection.
And I think those of you who deal with such families can
quickly find out whether or not it is a reasonable
procedure for your particular family.
And clearly the one on the lower line will continue to be
the most important one used.
Now there are a whole host of Children born with
multiple congenital malformations or variety of
syndromes in which interviewed were in diagnosis should be
reasonably entertained.
Now here's the one attempting to show an
abnormal spectra photo metrics can,
uh,
of amniotic fluid for,
um,
Milo Meninga seal.
I really personally don't believe,
although it's been abnormal once or twice,
that this is a reliable index,
and most of you are much more familiar with this area than I am.
I.
Amino acids have been done and
allow the one confined that there are a number
of patients in which the amino
acids are greatly increased.
I think it again.
It's too difficult,
too cumbersome black specificity and
reflects many,
many other things besides just the
fetal.
The fetus with this disorder to be a
value,
probably the best cope for a
technique,
I think in the future will resort.
Uh,
it's nicely illustrated.
I least hope that nicely illustrating these last two.
These air some slides from not discriminator in
Edinburgh,
who has been working with a two millimeter
and the A scope,
which he has been used to look for central
nervous system defects in utero.
This shows you supposed to show you the finger
of the fetus photographed through the
ami a scope.
Here you can see the genitalia.
Uh,
clearly so if you're looking for sex determination,
this is certainly it might be more
dangerous.
And in fact,
it is.
But it's certainly a lot he's to do than having somebody grow up,
sells for you for,
uh,
side of genetic diagnosis.
And most of you know,
you'd rather trust your own I.
Then you would one of those funny looking pictures that get sent back to you.
I think that's the last slide
could have the slide projector off,
please.
The I think the development
of Anam Knee a scope is to me
clearly one which is technically within doing.
I know there is a by medical
engineer at Northwestern who's developed Anania scope
of sorts.
Uh,
that can fit through a 21
gauge needle e think when one clearly gets down
to that size.
And there's no reason with all of the other things that we can do with
cameras and photo electric equipment,
that we can't develop some way of visualizing the
fetus,
which I think would make
interviewed her and diagnosis and much more broadly,
acceptable field and one which you would have
a much more impact,
I think,
than we do at the present time.
In terms of looking for congenital malformation
syndromes,
there are a number in which X ray can be used and
encephalitis in a classical example of where X
ray at roughly 20 or 22 weeks can
clearly identify the diagnosis,
as can,
um,
ultrasonic,
uh,
scan will show you an abnormal
skull.
I think these techniques they're all becoming
available now.
How do you put them into proper context and how can you
utilize them?
Well,
first of all,
everybody in this room should not be doing on GSN
thesis routinely.
I think,
as most of you know,
I think technically it's a very simple procedure,
sort of make it it.
Ah kin thio.
I think I'd much rather have an obstetrician tried to do in MSN
thesis than a pediatric intern doing a
spinal tap.
The difference is,
I think we have a great deal of experience and know how as
to what to do with that spinal fluid that we have.
But most people don't have any idea really
or any capability on hand
locally as to what to do with the fluid.
I think a reasonable way of thinking of it is that there are
patients that all of you deal with who are at high risk.
I think if you find such a patient and you have facilities
available on your Onley,
likely tohave the facilities available,
uh,
boast for I think doing the chromosomal
work on this must be a facility
which has demonstrated the capability of growing on the other fluid
cells.
And although we all laugh,
how simply are now it's no place for you to be
sending fluids.
Somebody who is working on his first three
to monitor pregnancy uh,
you can find the laboratory.
And if the procedure is done in,
the laboratory is notified beforehand,
they can accept the cells.
The ship,
very readily at ambient temperature on the
cells,
will be cultivated 95% of the
time on one insertion of the needle in one and the S synthesis
in 99% of the time.
It if one needs to do a second tap
in reliable laboratories at the present time so that one
can get you an answer,
it's accurate.
Over 99% of the time in terms of chromosomal
abnormalities on,
I think this could be a very
useful adjunct.
The biochemical ones should be done clearly Onley
in laboratories that have a great deal of working
knowledge about the specific enzyme in question and the
specific disease.
I think you will find the development in all of the large cities
of amniocentesis programs for chromosomal
defects.
Unfortunately,
in the city of Chicago,
which I have no reason to presume is any different than any large
city anyplace else in the country.
Every hospital who would do in MDS and
thesis once every year is deciding.
It's extremely important for them to go through the expense
in setting up one of these procedures,
and and they're never gonna be ableto have any sort of reasonable
accuracy or reliability,
so it should be regionalized.
They need to be either for
the armed forces,
wherever the bases are locally.
If they're in a large city,
they could be done is part of a con joint program with one of the
hospitals in that large city.
They could be sent all over the country or the other
possibilities of centralized laboratory
available to do them
within the service personnel,
I think,
Well,
I think I'll sort of stop in a second.
But I just would like toa leave the point,
which is really the only rationale for,
uh,
I think these two days of the program
genetics is not an isolated little goody,
uh,
that has no bearing in clinical medicine.
A significant number of the patients who you take care
of with nonclassical genetic disease like
cost a number of the service costs a number of the breast,
leukemias or other general medical problems
do,
in fact,
as far as I'm concerned,
probably have some degree of genetic
basis heritage in them.
Prenatal Detection of Genetic disorders
With Henry Nadler,
M D professor and chairman of Pediatrics,
Northwestern University
was produced through the mobile facilities of the TV
division,
Academy of Health Sciences,
United States Army,
Fort Sam,
Houston,
Texas