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Safer than ever prenatal diagnosis | Philippos C. Patsalis | TEDxUniversityofNicosia


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i’m philip hospitalized and imagine a

i’m philip hospitalized and imagine a deceased i would like to show you a

deceased i would like to show you a

deceased i would like to show you a picture and ask you how you feel

happiness we all feel happy when we look

happiness we all feel happy when we look at pictures of babies our minds are

at pictures of babies our minds are

at pictures of babies our minds are genetically programmed to reach in a

genetically programmed to reach in a

genetically programmed to reach in a positive manner when we look at pictures

positive manner when we look at pictures

positive manner when we look at pictures of babies this genetically programming

of babies this genetically programming

of babies this genetically programming makes us happy makes us want to have

makes us happy makes us want to have

makes us happy makes us want to have them and protect them so you can imagine

them and protect them so you can imagine

them and protect them so you can imagine if you have not been through this

if you have not been through this

if you have not been through this experience already pregnancy it’s a time

experience already pregnancy it’s a time

experience already pregnancy it’s a time of a profound happiness and joy there is

of a profound happiness and joy there is

of a profound happiness and joy there is a great excitement but also anxiety and

a great excitement but also anxiety and

a great excitement but also anxiety and nervousness about things that could go

nervousness about things that could go

nervousness about things that could go wrong can you imagine how the family

wrong can you imagine how the family

wrong can you imagine how the family feels when the pregnancy is lost

feels when the pregnancy is lost

feels when the pregnancy is lost especially if it is not their fault the

especially if it is not their fault the

especially if it is not their fault the time of happiness becomes times of

time of happiness becomes times of

time of happiness becomes times of sadness after doing my PhD and training

sadness after doing my PhD and training

sadness after doing my PhD and training in the United States in the emerging

in the United States in the emerging

in the United States in the emerging field of genetics I returned to Cyprus

field of genetics I returned to Cyprus

field of genetics I returned to Cyprus in the early 90s at that time prenatal

in the early 90s at that time prenatal

in the early 90s at that time prenatal diagnosis which is the examination of

diagnosis which is the examination of

diagnosis which is the examination of the fetus for genetic diseases before

the fetus for genetic diseases before

the fetus for genetic diseases before birth was not offered in Cyprus prenatal

birth was not offered in Cyprus prenatal

birth was not offered in Cyprus prenatal diagnosis was carried out through

diagnosis was carried out through

diagnosis was carried out through invasive procedure of amniocentesis and

invasive procedure of amniocentesis and

invasive procedure of amniocentesis and all samples from pregnant women were

all samples from pregnant women were

all samples from pregnant women were sent to England for testing so in 1993 I

sent to England for testing so in 1993 I

sent to England for testing so in 1993 I established a laboratory and a team at

established a laboratory and a team at

established a laboratory and a team at the newly found Cyprus institute of

the newly found Cyprus institute of

the newly found Cyprus institute of neurology and genetics and offered

neurology and genetics and offered

neurology and genetics and offered prenatal diagnosis as a centralized

prenatal diagnosis as a centralized

prenatal diagnosis as a centralized genetic service facility for the whole

genetic service facility for the whole

genetic service facility for the whole country a service which is offered until

country a service which is offered until

country a service which is offered until today we started offering services to

today we started offering services to

today we started offering services to pregnant women

pregnant women

pregnant women and at the same time we are carrying out

and at the same time we are carrying out

and at the same time we are carrying out research for advancing prenatal

research for advancing prenatal

research for advancing prenatal diagnosis with the development of new

diagnosis with the development of new

diagnosis with the development of new methodologies and technologies research

methodologies and technologies research

methodologies and technologies research has taken us to a beautiful path

has taken us to a beautiful path

has taken us to a beautiful path initially at the level of the

initially at the level of the

initially at the level of the chromosomes and then we started going

chromosomes and then we started going

chromosomes and then we started going smaller and deeper to the parts of the

smaller and deeper to the parts of the

smaller and deeper to the parts of the chromosome to the level of the gene to a

chromosome to the level of the gene to a

chromosome to the level of the gene to a single letter of a single gene we

single letter of a single gene we

single letter of a single gene we developed new ways that enable us to

developed new ways that enable us to

developed new ways that enable us to analyze the DNA of the fetus in greater

analyze the DNA of the fetus in greater

analyze the DNA of the fetus in greater detail the outcome of our research made

detail the outcome of our research made

detail the outcome of our research made it possible to offer prenatal diagnosis

it possible to offer prenatal diagnosis

it possible to offer prenatal diagnosis for unprecedented number of genetic

for unprecedented number of genetic

for unprecedented number of genetic diseases I curate and fast results allow

diseases I curate and fast results allow

diseases I curate and fast results allow us to provide timely counseling to

us to provide timely counseling to

us to provide timely counseling to future parents so that was the positive

future parents so that was the positive

future parents so that was the positive side on the negative side prenatal

side on the negative side prenatal

side on the negative side prenatal diagnosis was possibly only through an

diagnosis was possibly only through an

diagnosis was possibly only through an invasive procedure known as

invasive procedure known as

invasive procedure known as amniocentesis it required the insertion

amniocentesis it required the insertion

amniocentesis it required the insertion of a big needle

of a big needle

of a big needle into the womb of a pregnant woman to

into the womb of a pregnant woman to

into the womb of a pregnant woman to collect cells from the embryo

unfortunately this invasive procedure

unfortunately this invasive procedure comes with risk one in 200 pregnancy is

comes with risk one in 200 pregnancy is

comes with risk one in 200 pregnancy is lost amniocentesis might cause fetal

lost amniocentesis might cause fetal

lost amniocentesis might cause fetal death to otherwise completely normal

death to otherwise completely normal

death to otherwise completely normal fetuses and that has often discouraged

fetuses and that has often discouraged

fetuses and that has often discouraged the majority of pregnant women from

the majority of pregnant women from

the majority of pregnant women from having prenatal diagnosis and that is

having prenatal diagnosis and that is

having prenatal diagnosis and that is understandable because if the pregnancy

understandable because if the pregnancy

understandable because if the pregnancy is lost and Fiddle death happened to you

is lost and Fiddle death happened to you

is lost and Fiddle death happened to you it is 100% yours few years ago

it is 100% yours few years ago

it is 100% yours few years ago a woman very close to my heart got

a woman very close to my heart got

a woman very close to my heart got pregnant after several years of trying

pregnant after several years of trying

pregnant after several years of trying to conceive she and her husband decided

to conceive she and her husband decided

to conceive she and her husband decided to use amniocentesis to get a prenatal

to use amniocentesis to get a prenatal

to use amniocentesis to get a prenatal diagnosis I was in the room with them

diagnosis I was in the room with them

diagnosis I was in the room with them for emotional support when the procedure

for emotional support when the procedure

for emotional support when the procedure took place few hours later the mother to

took place few hours later the mother to

took place few hours later the mother to be in panic reported feeling her belly

be in panic reported feeling her belly

be in panic reported feeling her belly shrinking and she was leaking fluid the

shrinking and she was leaking fluid the

shrinking and she was leaking fluid the doctor found that the amniotic sac has

doctor found that the amniotic sac has

doctor found that the amniotic sac has ruptured and this precious pregnancy

ruptured and this precious pregnancy

ruptured and this precious pregnancy would be lost the story doesn’t end here

would be lost the story doesn’t end here

would be lost the story doesn’t end here the following days were tragic she was

the following days were tragic she was

the following days were tragic she was going to the doctor every day only to

going to the doctor every day only to

going to the doctor every day only to observe the embryos heartbeat falling

observe the embryos heartbeat falling

observe the embryos heartbeat falling day by day it took days of agony and

day by day it took days of agony and

day by day it took days of agony and desperation until the fetus passed away

desperation until the fetus passed away

desperation until the fetus passed away I was asked to examine the fetus for

I was asked to examine the fetus for

I was asked to examine the fetus for genetic abnormalities and I found it was

genetic abnormalities and I found it was

genetic abnormalities and I found it was normal a normal fetus of female gender

normal a normal fetus of female gender

normal a normal fetus of female gender who was lost because of the invasive

who was lost because of the invasive

who was lost because of the invasive procedure I was personally witnessing

procedure I was personally witnessing

procedure I was personally witnessing the negative side of prenatal diagnosis

the negative side of prenatal diagnosis

the negative side of prenatal diagnosis the field of science to which I have

the field of science to which I have

the field of science to which I have devoted my life and despite my years of

devoted my life and despite my years of

devoted my life and despite my years of training and experience it shocked me to

training and experience it shocked me to

training and experience it shocked me to the core another way had to be found for

the core another way had to be found for

the core another way had to be found for parents to get to know their child

parents to get to know their child

parents to get to know their child before birth safer easier accurate a new

before birth safer easier accurate a new

before birth safer easier accurate a new beginning I started focusing my research

beginning I started focusing my research

beginning I started focusing my research in developing a non-invasive prenatal

in developing a non-invasive prenatal

in developing a non-invasive prenatal diagnosis that will constitute

diagnosis that will constitute

diagnosis that will constitute zero risk for the pregnancy laws and

zero risk for the pregnancy laws and

zero risk for the pregnancy laws and make the widespread use of prenatal

make the widespread use of prenatal

make the widespread use of prenatal diagnosis safe for all pregnant women

diagnosis safe for all pregnant women

diagnosis safe for all pregnant women worldwide the objective of our research

worldwide the objective of our research

worldwide the objective of our research was to make the testing non-invasive to

was to make the testing non-invasive to

was to make the testing non-invasive to make it accurate to make it reliable and

make it accurate to make it reliable and

make it accurate to make it reliable and most importantly to make it safe for

most importantly to make it safe for

most importantly to make it safe for both the mother and the fetus and

both the mother and the fetus and

both the mother and the fetus and eventually to advance it for all

eventually to advance it for all

eventually to advance it for all pregnancies and for all pregnant women

attest that all women can take without

attest that all women can take without any fear these was the goal that not

any fear these was the goal that not

any fear these was the goal that not just my team but several other research

just my team but several other research

just my team but several other research groups in the world were actively

groups in the world were actively

groups in the world were actively working on today after several years of

working on today after several years of

working on today after several years of intensive research we have made it we

intensive research we have made it we

intensive research we have made it we have developed innovative technologies

have developed innovative technologies

have developed innovative technologies that carry out non-invasive prenatal

that carry out non-invasive prenatal

that carry out non-invasive prenatal testing for prenatal diagnosis to

testing for prenatal diagnosis to

testing for prenatal diagnosis to describe it in brief the placenta of the

describe it in brief the placenta of the

describe it in brief the placenta of the fetus releases DNA from the cells that

fetus releases DNA from the cells that

fetus releases DNA from the cells that go through apoptosis to the blood stream

go through apoptosis to the blood stream

go through apoptosis to the blood stream of the pregnant woman these residual

of the pregnant woman these residual

of the pregnant woman these residual amounts of fetal DNA is called cell free

amounts of fetal DNA is called cell free

amounts of fetal DNA is called cell free fetal DNA and flows into the mother’s

fetal DNA and flows into the mother’s

fetal DNA and flows into the mother’s blood we collect a blood sample from the

blood we collect a blood sample from the

blood we collect a blood sample from the arm without any risk to the mother and

arm without any risk to the mother and

arm without any risk to the mother and the fetus and then from the blood sample

the fetus and then from the blood sample

the fetus and then from the blood sample we extracted this cell free DNA we get

we extracted this cell free DNA we get

we extracted this cell free DNA we get the desirable results by doing

the desirable results by doing

the desirable results by doing innovative genetic tests which analyzes

innovative genetic tests which analyzes

innovative genetic tests which analyzes these residual amounts of cell-free DNA

these residual amounts of cell-free DNA

these residual amounts of cell-free DNA using complex genetic technology and

using complex genetic technology and

using complex genetic technology and bioinformatics therefore a non-invasive

bioinformatics therefore a non-invasive

bioinformatics therefore a non-invasive prenatal testing requires a small amount

prenatal testing requires a small amount

prenatal testing requires a small amount of blood from the arm of a pregnant

of blood from the arm of a pregnant

of blood from the arm of a pregnant woman very early in pregnancy and has up

woman very early in pregnancy and has up

woman very early in pregnancy and has up absolutely no risk for the fetus it can

absolutely no risk for the fetus it can

absolutely no risk for the fetus it can be used without hesitation by all

be used without hesitation by all

be used without hesitation by all pregnant women who wish to do prenatal

pregnant women who wish to do prenatal

pregnant women who wish to do prenatal diagnosis it provides results fast three

diagnosis it provides results fast three

diagnosis it provides results fast three to four days very accurate higher than

to four days very accurate higher than

to four days very accurate higher than 99% and the less expensive as it cost

99% and the less expensive as it cost

99% and the less expensive as it cost less than the invasive procedure

non-invasive prenatal testing is now

non-invasive prenatal testing is now made available to millions of pregnant

made available to millions of pregnant

made available to millions of pregnant women worldwide and is widely accepted

women worldwide and is widely accepted

women worldwide and is widely accepted by the public and the health care

by the public and the health care

by the public and the health care professionals all around the world with

professionals all around the world with

professionals all around the world with zero risks nowadays and with these new

zero risks nowadays and with these new

zero risks nowadays and with these new technology every mother can get to know

technology every mother can get to know

technology every mother can get to know their child your child before birth this

their child your child before birth this

their child your child before birth this is a new beginning in the 21st century

is a new beginning in the 21st century

is a new beginning in the 21st century you don’t have to stick a needle into a

you don’t have to stick a needle into a

you don’t have to stick a needle into a woman’s belly to get the data in this

woman’s belly to get the data in this

woman’s belly to get the data in this new year of genetic testing we moved

new year of genetic testing we moved

new year of genetic testing we moved from the dimensions of asking for more

from the dimensions of asking for more

from the dimensions of asking for more and better prenatal diagnosis to another

and better prenatal diagnosis to another

and better prenatal diagnosis to another dimension for asking for safer more

dimension for asking for safer more

dimension for asking for safer more effective and holistic prenatal

effective and holistic prenatal

effective and holistic prenatal diagnosis back in the 90s people in

diagnosis back in the 90s people in

diagnosis back in the 90s people in Cyprus had to ship their blood samples

Cyprus had to ship their blood samples

Cyprus had to ship their blood samples to another country for testing now not

to another country for testing now not

to another country for testing now not only we do prenatal diagnosis for all

only we do prenatal diagnosis for all

only we do prenatal diagnosis for all the samples in Cyprus but we receive and

the samples in Cyprus but we receive and

the samples in Cyprus but we receive and test thousands of samples from many

test thousands of samples from many

test thousands of samples from many countries around the world in this

countries around the world in this

countries around the world in this journey of improving prenatal diagnosis

journey of improving prenatal diagnosis

journey of improving prenatal diagnosis I’m privileged to work with a group of

I’m privileged to work with a group of

I’m privileged to work with a group of brilliant scientists we continue to

brilliant scientists we continue to

brilliant scientists we continue to share our knowledge knowledge our

share our knowledge knowledge our

share our knowledge knowledge our experience our ideas our commitment and

experience our ideas our commitment and

experience our ideas our commitment and focus is to come up with the technology

focus is to come up with the technology

focus is to come up with the technology to offer non-invasive prenatal testing

to offer non-invasive prenatal testing

to offer non-invasive prenatal testing for all genetic diseases

for all genetic diseases

for all genetic diseases to expand it in the field of cancer

to expand it in the field of cancer

to expand it in the field of cancer offering better diagnosis prevention

offering better diagnosis prevention

offering better diagnosis prevention therapy selection better clinical

therapy selection better clinical

therapy selection better clinical management with a simple and safe

management with a simple and safe

management with a simple and safe non-invasive blood test rather than

non-invasive blood test rather than

non-invasive blood test rather than complicated and painful biopsies and

complicated and painful biopsies and

complicated and painful biopsies and surgeries to expand in the field of

surgeries to expand in the field of

surgeries to expand in the field of personalized medicine the end goal is to

personalized medicine the end goal is to

personalized medicine the end goal is to move towards 100% non-invasive we

move towards 100% non-invasive we

move towards 100% non-invasive we another brilliant scientific teams in

another brilliant scientific teams in

another brilliant scientific teams in the world we will certainly get there

the world we will certainly get there

the world we will certainly get there thank you

thank you

thank you [Applause]

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