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To PGT or not to PGT that is the question. Director of Embryology and Genetics, Emma the Embryologist and her husband, Simon, explore all things Pre-implantation Genetic Testing (PGT). Emma shares advice direct from the several years in the lab, including discussions around NHS funding, costs, thawing, refreezing, embryo recovery, brca genes, timeframes, age factors, translocation, infertility fatigue, misconceptions and more. Listen out for Emma's library analogy – it's super helpful.
Creators & Guests
What is Hatching a Plan?
Ever wondered what goes on behind the scenes in fertility treatment? Join Emma, the embryologist, and her husband Simon for a down-to-earth conversation about making dreams of parenthood a reality. Each episode dives into the science of embryology in a way that's easy to understand, empowering you to ask the right questions on your fertility journey.
welcome to episode three of
hatching a plan my name's
simon i'm emma the embryologist's husband
i'm emma emma the
embryologist and this is
simon yeah i think that's
how we do our intro now
maybe we should do that
every time but thank you so
much folks um for joining
us today
right.
So just to clarify, I am the tech geek.
I am not a medical professional.
Emma is the expert here.
And today, this is all about PGT.
But before we dive into that,
we thought we'd get to know
the audience a little bit more.
So
We are based in Teddington
in Greater London.
So if you do want to share
where you're dialling in from today,
that'd be lovely.
Kind of get to know where the audience is,
whereabouts you're based.
If you don't want to share,
you don't have to,
but it's always nice to
hear from where folks are
dialling in from today.
So whilst those comments are coming in,
Emma,
why are we doing this podcast just
before we dive into this topic today?
Well,
you call it a podcast and I don't
think we've ever really
spoken about that.
We've turning this into a
podcast because this
started off as a live webinar,
educational thing.
And then we got talking and we were like,
actually,
it needs to go out in different
places so that people can
listen to it as well as
watch it live or watch it
on YouTube and all of that thing.
So yeah,
it is a podcast and we're doing it
because I don't think it
should be that difficult
for people to get information.
about all of this stuff i
don't think you're going
into a journey that is so
complex and complicated and
i just don't think you
should fight that hard to
find out what i believe are
quite basic facts yeah
absolutely and i've uh well
how long we lived together
about 18 years now 18 too
long too too long oh boy oh
that's awkward this is live
live couple uh
but but in those 18 18
wonderful years uh yeah
i've been listening to emma
and emma if you don't know
emma already says listening
drowning and training on no
emma has serious passion
about what she does um you
know like day in day out is
is there just to do amazing
things for people and to help people
um from all walks of life to
to move forward with
whatever treatment they're
going through so yeah she's
ace and if yeah if you're
not familiar with emma then
please do follow her on
instagram at emma the
embryologist we also have
as mentioned the podcast
which is available um if
you if you head over to
uh where have we got that
link now oh i haven't got
that link to hand we'll
talk about that a little
bit later but if you if you
look up hatching a plan on
various podcasting
platforms it will be
available so there's two
episodes so far we've got
choosing a fertility clinic
understanding the vienna
consensus and then our last
episode was everything you
need to know about donor
sperm loads of fascinating
information shared on there
So we've got some people
dialing in from all over the world.
This is wonderful.
Okay, let's go back to the top.
So we've got Ascot.
Hi there, Ewa or Ewa.
Apologies if I mispronounce your name.
Ewa.
Ewa.
Ah, okay.
Lauren from Vauxhall.
Just down the road.
Ah, there you go.
And Kelly Weybridge,
just down the road as well.
Laura from Luzerne in Switzerland.
Hannah from Gloucestershire.
Melissa from Costa Rica, CA.
Would that be California?
I don't know.
Oh, wow.
Amazing.
From Woking, Hertfordshire, Croydon,
London.
Oh, Yannica,
you're in Greece at the moment
for your IVF.
Oh, amazing.
Yeah, yeah.
And Sepi from Aberdeen.
Oh, and Kelly, very kind words.
She is great on Insta.
Yeah, she is indeed.
Emma really tries her best to just,
you know, schedule with, well,
we have a family and you're
very busy at your clinic or clinics,
I should say.
Clinics.
Yeah, both clinics.
And what's your official title?
It's got lots of words in it.
I am the Director of
Embryology and Genetics for
the Evewell Group.
So I've got a clinic in
Harley Street and a clinic
in Hammersmith.
And I divide my time between the two.
And I have a very lovely, wonderful,
big team of 15
embryologists and admin
assistants and stuff that
make it all work.
It's all about the team.
It's never about the eye.
I'm quite nervous about this one.
How come you're nervous?
What's up?
Because this is my area of expertise.
So really...
I want to get this right
because it's something I
genuinely believe people
should be aware exists.
I think people have gone
through IVF without even
knowing about PGT,
and I want to try and swing
it on its head about where
and how you use it.
So I'm quite nervous about
this one because it's
something that is... I'm a
genetic disease expert,
so I deal with genetic disease,
which we'll come on to.
So I'm really keen to get this right.
Yeah, I get it.
So, folks, please go easy on Emma.
But, well,
saying that... You haven't gone
easy on me, it's fine.
No, this is amazing, right?
So Emma asked,
put out like a Q&A thingy on Instagram,
and we have got a whole
load of questions to get through.
This is amazing.
So thank you so much to
those that are joining us
that have already asked
their questions on Insta.
We've got some brilliant
questions come through.
So we've got a copy of them.
We're going to whiz through.
But before we do that...
what is pgt like let's step
right back what does it
stand for you know why does
it matter where does it
come from like give us give
us a bit of history where
does the pgt come from yeah
yeah why why did what was
pre-pgt why did you say pgt
started in like probably in nine
the mid-90s,
Alien Handyside did the first one,
I think,
at the Bridge Clinic in London in 96.
Right.
And it was looking for, from memory,
it was trying to detect
Fragile X Syndrome,
which is a condition that
is inherited through families,
and they created...
a group of embryos,
and then they used the technology,
very basic technology back then.
I mean, it's not basic, but it is now,
according to where we are now.
And they managed to help
this family have a baby
that was unaffected from
Fragile X. So it started in disease.
It very much started in disease.
Cystic fibrosis came next.
Huntington's disease came
probably after that.
The cancer genes, the BRCA's,
trying to rid families of really,
really hideous genetic disease.
That probably happened in the late 90s.
And then in the early noughties,
we started developing a
process called fish
florescence in situ hybridization,
which allowed us to see
just five chromosomes.
It was all done by staining.
And that's when we used to
biopsy embryos at day three.
We now know that that
probably wasn't our
greatest idea because
embryos are only eight
cells at day three.
So by removing a cell,
you are removing an eighth
of its overall makeup.
And we then really don't know.
how many of those embryos
didn't grow because of that
biopsy and you're going
back to like like the
noughties so it's um and
you got into it in 2008
2008 i did my biopsy
training so i've been
biopsy trained for 16 years
i started in day three
embryos and then we moved
into blastocyst biopsy in
2000 and i want to say 11
or 12 when we started doing
that so that's been about
10 15 years ago amazing
okay so with a bit of
history let's dive into
some of the questions and
thank you folks i can see
on the comments there's
some questions coming in we
will do our very best to
get to them we're going to
start first with the
questions that we had via
instagram and then for
folks sharing in the
comments thank you so much
we will do our best to get
to them we have got another
50 or so minutes so we
might we might have to go
rapid fire i think you like
well do we want to do what it is first
Oh, okay.
So we've done the history.
So what is it?
Pre-GT stands for
pre-implantation genetic testing.
And that doesn't define what
we're testing for.
That is the process of us
removing cells from an
embryo at a certain stage
in its development to try
and diagnose it for what
we're looking for.
If that's disease, that's disease.
If it's what we call aneuploidies,
which is when the... So
most embryos are made...
All embryos are made up of chromosomes.
And those chromosomes,
half of them come from the
egg and half of them come from the sperm.
And as we age as women,
we make more mistakes when
we make our eggs because
we're born with all our eggs.
I think people are probably
quite familiar with this idea now.
If the embryo content of
chromosome copy number is incorrect,
it's called an aneuploidy.
So for example, a Down syndrome embryo,
I use that because
everybody knows what it is,
is an extra copy of chromosome 21.
So you are 46XY, I am 46XX,
and a Down syndrome embryo is 47XY or XX,
but it carries that extra copy.
You can have less copies or
more copies you can have.
And some of them are
compatible with life and
some of them aren't,
but ultimately the majority
of these embryos will
result in miscarriage, failure to implant,
or...
So the most common reason we
use PGT now is what we call PGT-A,
which is pre-implantation
genetic testing for aneuploidies.
I'm not going to keep saying
pre-implantation genetic
testing because it takes ages.
Just PGT-A.
PGT-A.
Got it.
And then you've got something called PGTM,
which is when we're looking
for a monogenic disease,
and that's when we're
looking for a specific genetic disease.
And actually the laboratory
process for us doing it is identical.
We are growing embryos.
We are taking a few cells
from a blastocyst on day
five or day six or day seven,
and we are then freezing the embryo.
and the tiny amount of cells
between five and eight
cells that we take from the
outer cell line of the
embryo gets sent to a
genetics testing lab the
testing they do determines
what they find out my
process is the same you
tell them what to test for
okay you say right this
specific type of test or
groups of tests i tell them
what i want yeah and what
the patient is after yeah
um if it's a genetic
disease it takes a little
bit longer to work up it we
have to go through the process of gaining
parental DNA to produce some
matching exercises.
But if it's PGTA,
which I would say 95% of
the work I do is PGTA,
then I send them the cells
and I tell them that we are
wanting a PGTA result for each embryo.
Got it.
Okay.
So that's what PGT is.
Yeah.
The process for me is a biopsy.
It's the growth of an embryo.
It's an embryo getting to
the right stage and it's
freezing those embryos down.
Embryos are always frozen
when you do
pre-implantation genetic
testing because it takes
between a week and two weeks
mainly towards the two week
mark to get the results.
So you can't then be
transferring embryos back
until you've got the
results because then they
would just be on screen.
So we call them screened
embryos or unscreened embryos.
I think that's the way it's
sort of spoken about in this in the UK.
Yeah.
Cool.
So just to clarify that you
mentioned about the UK, so your UK base,
obviously you're connected
to many clinics across the globe,
but when you talk about PGT,
is it specific to the UK or
could it be relevant to other parts?
PGT is done in the same,
it's probably done by the
same six or seven companies
all over the globe,
but it's what you're
allowed to know about the
embryos that changes from the country.
So like in the US,
you're allowed to know the
gender of the embryos.
In the UK,
you're not unless it's medically
relevant.
So there are circumstances.
Fragile X is a prime example
that it affects boys more
than it affects girls.
So you can do gender selection on embryos.
So you have to know.
You don't have to know,
but you can choose to know gender.
It's complicated.
But in this country,
you are not allowed to
gender identify an embryo
for anything other than medical reasons.
Cool.
Just verify this country, UK,
based in the UK,
because your clinic's UK based.
Cool.
still nervous are you all
right kind of yeah a little
bit okay okay let's get
stuck in folks okay here we
go so would you recommend
pgt after four early
miscarriages five six and a
half weeks losses yeah i
would and i think this is
one of the main players for
me early miscarriage um you
know the more like let's i
think i always say this
when i do any any sort of
talking topic i'm going to
take emotion out of this
because no one can
determine how long emotionally
anyone takes to get through a miscarriage.
It's a very personal journey,
but scientifically and
clinically and medically speaking,
an early miscarriage is
normally anything before we've seen
a heartbeat or anything
that's probably before
seven or eight weeks.
We call it early.
I think it's quite
derogatory to call it early.
A loss is a loss.
But clinically,
an early miscarriage before
eight weeks is medically
quite manageable and it
doesn't normally impact on
the time it takes for you to try again.
Emotionally is a different conversation.
If you are miscarrying,
that many times.
The most common reason for
early miscarriage,
unless you've got an
underlying disorder that
maybe the doctors haven't
checked or something,
there are things that cause miscarriages,
but it is mostly,
we know that 80 to 90% of
miscarriages are caused by
genetic aneuploidies,
so the wrong number of chromosomes.
It's actually nature's way
of being kind and I know
that sounds really awful.
A genetically aneuploid
embryo will either not make
you pregnant because nature
is actually good at quality
control or it will miscarry
because the body and the
embryo knows that the
information isn't correct.
Think of it like a blueprint
and the blueprint can't
make the building grow so
the embryo doesn't keep
growing so it miscarries.
However,
if you do continue to miscarry
like that and then you
require surgery for those miscarriages,
they can also lead to
long ongoing scarring
problems in the uterus,
which can stop you getting
pregnant full stop.
So yes, I do think PGT,
this is where I would use
it in the younger age group actually,
because it's not really
recommended in women under 35,
given that what we're trying to do is,
for me,
it's about reduction in time to
pregnancy and getting you there quicker.
so that you're not wasting
valuable time and
financials and resources
and emotional horrendousness.
But in women of under 35
with recurrent miscarriage,
I would use it.
I think it's incredibly powerful.
Okay, on to the next one.
Would you recommend it, being PGT,
for someone who has had
five failed cycles,
currently now aged 40?
Yeah, 100%, because again,
like I've just said,
the embryo either fails to implant.
But in some women,
there's definitely a difference in women.
Some women will grab onto
every embryo and miscarry them.
other women just won't get
pregnant with them you can
decide yourselves which is
kinder um i think that's a
very personal thought
process as well um at 40 we
know that only between 25
and 32 percent of our
embryos are going to be
genetically normal in a 40
year old maybe you might be
lucky and it could be as
high as 35 but overall we
know that we're on the flip
side of our early 40s so
given that you are if you
are able to create a group of embryos
and we know, say, for example,
five embryos,
only one of those is going to be normal,
why don't we just work that
out and only use that one embryo?
And then at least you know,
going into a cycle with a normal embryo,
that if that doesn't work,
we know that we've done
everything we can to make it work.
I would also be having a very,
very good look at before I
got to someone to put a new
ploid embryo back that had
had this many failed attempts,
I'd be looking at all the
other stuff as well just to
make sure it's not something else.
You often talk about like the holistic,
like not just,
it's not one specific thing.
You've got to look at history.
You've got to look at
everything that's happened in the past.
Okay.
On to the next one.
If no embryos are normal,
are you allowed to still
transfer as potential for
them to correct?
Now I'm,
I'm interested that we're getting
to this quite soon, actually.
Um, so under the UK law,
we are governed by UK law,
which is by the HFEA code of practice,
which I think anyone would know is,
is not my favorite place, but they do,
they are regulator and they
do the very best they can.
And they're chronically underfunded,
but in the code of practice,
we are bound by rules and regulation.
And one of the rules is the
actual wording of it is you
may not transfer
an abnormal embryo in the
presence of a normal.
So if someone has normal embryos,
you are not allowed to
prioritize abnormal embryos.
There is actually nothing in
the code of practice that
says you can't transfer an
abnormal embryo, but you will be very,
very pushed to find a
clinic that will do it.
And especially given the
evidence that has come out
in the last 18 months about
using abnormal embryos.
So to give everyone some
context about abnormal embryos,
when we talk about abnormal
embryos from recent times,
so the technology that we use now,
we are 98 to 99% certain
now that the outcome of
what we call a uniform
chromosome aneuploidy,
so that's a whole gain or a
whole loss of an embryo.
So a downs is a whole gain.
And a loss is something like
Turner syndrome,
which is missing a sex chromosome.
There's not many losses
actually that will result
in live birth at all, even pregnancy.
We, over the last sort of so many years,
there's been studies done on this.
And all genetic testing
laboratories have their own methods,
but one in particular,
which I work with called Juno,
have actually done what was
called a blinded study.
So they transferred a load
of embryos into women.
They had about 400 women
that transferred embryos
based on morphology grade alone,
so grading of an embryo.
They had actually done a
biopsy on these embryos and
they didn't get the results
until two years later
because they held them in
freezers and they let the
pregnancies play out.
They then found that in the one arm,
there was 200 normal
embryos transferred and we
had about 60 to 62% live
birth rate in that group,
which is what you'd expect.
And they then looked and
they had about 102
uniformly aneuploid embryos
and it was 100% lethal.
There was no babies.
There was about 12
pregnancies but they all miscarried.
Other people have repeated
that study and overall we
now know that 353 embryos
have been transferred as
aneuploid embryos.
And there is reports of two
babies being born.
One of which everyone is
convinced is actually a
mosaic and not an aneuploid.
And the other embryo
unfortunately has come from
quite a significantly,
how do I word this without being rude?
controversial individual in
the US who has already had
five papers redacted.
So again, I'm not overly convinced,
but hey, do you know what?
If it's one out of 353, for me,
that is enough of a paper
to show me that all we're
getting here is
miscarriages and heartache.
So that's where the data
stands with abnormal embryos.
So in the UK,
you probably won't find a
clinic that will do it.
There are places in the US
that will transfer abnormal embryos,
but the literature doesn't
support correction.
it does it just doesn't show
it it shows that if you are
using the best technology
now that we've got now then
it does correlate to almost
100 what we call lethality
so no ongoing pregnancies
once we've done the
aneuploidies and stuff gosh
fascinating those studies
okay should we jump on some
questions coming in from
the audience yeah should we
do that so let's jump back
out um okay so i think we had
Um,
let's bring this one up on the screen
from Lauren.
So I'm 42.
So I think I understand the
benefits doing PGT from
your previous webinars,
but I believe there's a
high chance that I may not
find a euploid in two,
three or more cycles.
So should I not consider
giving those day three or
five embryos a chance untested?
Thank you for your question, Lauren.
I suppose it comes back to the stats again,
um, Lauren, and if you are, you know,
you can put those embryos back.
Ultimately, if those embryos are normal,
then they've got the chance
for pregnancy as a normal embryo,
the risk of doing an
untested embryo at the age of 42.
is that there is an excess
of an 80% chance that the
embryos are aneuploid.
And it's what comes with an
aneuploid conception.
Like I said earlier,
if it doesn't make you pregnant, then yes,
remove emotion.
Like I said, it's heartbreaking.
But if it does make you
pregnant and you deal with
an eight week miscarriage
that then needs surgery,
you're potentially three to
six months down the line
before you can try again.
And at the age of 42,
we don't have that sort of
time before we can go and
collect more eggs.
So I get the argument.
But the realistic outcome of
what happens in aneuploid
conceptions needs to be discussed.
Yeah.
Yeah.
Thank you for your question, Lauren.
Lauren,
appreciate you being so open with
us and the audience today.
A question here from Janica.
So I have transferred a PGT
euploid embryo and still miscarriage.
Two of my non-tested embryos
came back genetically
normal with 46 chromosomes
when the issue was also tested.
And this might be the follow-on.
What could be the reasons
for miscarrying genetically
normal embryos?
I mean,
if you think that miscarriage is
one in four pregnancies and
even higher than that, I think,
because now we all test so early.
I don't know about,
I do know about everyone on here actually,
but I was testing from like, for our kids,
from day nine, day 10,
after I knew I could pick
up a positive pregnancy test.
Yeah, yeah, yeah.
And you've got to remember
back when our parents had us,
those pregnancy tests didn't exist.
So what we now know to be one in three,
one in four miscarriages,
people were just thinking
their period was late 20 years ago.
So we now know that
miscarriage is incredibly common,
especially the really early
ones that sometimes go as a
missed period.
And then you're just a few
days late and you have a bleed.
You were actually in a
biochemical pregnancy situation.
So we know that miscarriage
is something that happens
regardless of genetics.
It's definitely less with PGTA embryos.
I think overall we'd say in
any embryo going back that's unscreened,
you've got about a 24%
chance of a miscarriage, unfortunately.
And that gets higher with age.
As you get into your early to mid-40s,
it can be as high as 50%
miscarriage if you get pregnant with a...
an unscreened embryo.
We know that in PGTA tested embryos,
there's about 13 or 14% miscarriage rate.
And that comes down to why.
And so then you would really,
really need to be getting
into the elements of what
else causes miscarriage.
Immunes,
which I'm not a massive believer on,
but there's definitely
something in the body
rejecting something.
Lining, implantation factors.
microbiome of the uterus.
That's why we've got a lot
of other tests now that we would do.
So if a woman's only got one
newborn embryo in my clinic, for example,
they will do a full
diagnostic cycle to check
that everything's perfect
as it can be on paper
before you put that embryo back.
Because you might not get another one.
Yeah, yeah, I see.
So a bit like I don't
believe that you should be
using IVF as a diagnostic
tool when you can do ICSI.
Yeah,
I don't believe you should be using
an euploid embryo until
you're absolutely sure it's
going to have the opportunity to take.
Yeah, yeah.
So there are other tests
that need to be done.
There's things called ERAs
and EMAs and ALASs and...
There's so many things out there now.
And I think they've all got a place.
I don't think they're for everyone.
I don't think anything,
I don't think it's right for everyone.
But I think if you are
recurrently miscarrying or
losing euploid normal embryos, then yeah,
we need to start looking at something.
And I guess taking a step back,
a lot of why we're doing
these webinars and this is
a podcast and all the
educational stuff you share
on Instagram is...
Just so people have
questions to ask their
clinics and know what questions to ask,
not just kind of just sit there thinking,
oh, my goodness,
this is really overwhelming,
which clearly it is.
But just having a set and
series of questions.
So I think over time,
we're slowly going to build
out a set of questions,
a good crib sheet per kind
of area just to help people just to give,
you know,
your belief in education is just
so important.
Absolutely.
Thank you for that, Janneke.
We're going to jump on to
this one from Kirsten.
Kirsten,
is there a timeframe you can PGTA test in,
or could you test embryos
at a later date once they've been frozen?
So you can, you can do what we call,
we do quite a lot of them now, actually.
They're called thaw biopsy refreezes.
And what you have to do is
thaw the embryos out,
which if they're blastocysts,
you are thawing out the embryo.
you allow the embryo to
recover as if you were
going to transfer it.
So the aim is that it recovers,
it re-expands,
which is what we would aim for it to do,
and then we would do the
biopsy and re-freeze it.
Now,
the misconception here is that it is
harmful to freeze an embryo twice.
From my data, it's not.
I've got the same clinical
pregnancy rates from doing it twice.
I think what you need to make sure of,
if you are going to do a
Thor biopsy refreeze on embryos,
that you're working with a
clinic that will get your
embryos out and allow them
to do a full recovery
before they attempt to biopsy them.
I could biopsy an embryo
straight out of the freezer.
It's not challenging,
but is it the right thing to do?
Because if that embryo is
never going to recover,
it's not going to make a pregnancy anyway.
And you are then biopsying
something that was never
going to come out of that
first thought anyway.
So much like we do when
we're doing embryo
transfers from a frozen embryo,
we leave them for two to
three hours to make sure
they are fully recovered
before we do the transfer.
If they don't do well and a
patient's got more embryos,
we will then phone the
patient and talk to them
about thawing another
embryo to make sure they've
given it the best shot.
An embryo that doesn't re-expand,
which is when it gets
bigger after it's been thawed,
so it thaws out and it
takes on fluid again,
it gets bigger and starts to make itself
we freeze them down and
shrink them into balls by
taking the water out.
The water has to go back in
and then they get bigger again.
An embryo that doesn't do
that has got a really,
really low pregnancy potential.
So the question then is why
would you put it back in the freezer?
So we would leave our embryos,
we would thaw them out in the morning.
We would leave them all day,
probably till two,
three o'clock in the afternoon,
sometimes even overnight if
they're still not ready.
And then we would do the
biopsy and refreeze them.
And by doing that,
I've got almost identical
survival rates on the flip
side of the second thaw and
identical clinical pregnancy rates.
I think it can be done safely,
but it has to be done safely.
I think there's ways that
you can do it wrong.
So question the question to
ask your clinic.
Yeah.
How long are you going to
leave them after you've
thawed them before we do
the biopsy on them?
Are we going to make sure
they're absolutely intact?
Because you really don't,
there's no point in you
paying all that money to
have them biopsied and put
them back in the freezer if
they're not going to, you know,
regardless of genetics,
whether they were just not
going to survive that
freezing process anyway.
Yeah, that's fascinating.
And that's a great question to ask.
That's like the nitty gritty
detail that I think is
going to help people out there.
Okay, Kirsten, thank you for that.
Let's jump onto this one from Laura.
Would you recommend any
other type of genetic
testing before getting to PGT?
We've been recommended PGTA
testing after five failed transfers.
My husband already has two children,
so if there would be a genetic disorder,
could we assume this is coming from me,
age 37, fit and healthy?
So genetic disorder,
when you use that phrase,
means a genetic disease,
which is at the gene level.
What we're talking about
when we're talking about
PGTA is at the chromosome level.
So your genes are carried on chromosomes.
So let's do a quick science
lesson because I think this will help.
Here we go.
This will help.
Here it comes.
So on my Insta,
there's a thing called the
library analogy,
and I think it helps just
having a visual.
So in each of your cells is your library.
Your library is what makes
up all your information,
what makes you you.
It's your blueprint.
Half of your library came
from your mum and half of
your library came from your
dad to make a unique brand new library,
which is you.
In your library,
you have 23 bookshelves on
the right and 23 bookshelves on the left.
They represent your chromosomes.
On the chromosomes,
there are a load of books,
different amount of books
depending on the number
that the bookshelf is.
Bookshelf number one,
which is chromosome one,
has something ridiculous
like 6,000 books on it
because it's a big beast.
It's an important one.
It's a really important one.
Yeah, yeah.
You go down the library and
as you go through the library,
the bookshelves get smaller
because the chromosomes get
smaller and they have less books on them.
In this library, in your library,
you have identical books on each side.
So you have books...
Jane Austen there and you
have Jane Austen here.
They're identical copies.
When we talk about genetic disease,
what we're looking for is a
problem in a page on a book,
on a bookshelf.
because it's when it doesn't
tell the story right.
So there's an error or
there's a page missing or
there's some letters missing.
And then therefore that book
doesn't read right anymore.
So the book doesn't tell the
story properly,
so it can't function properly.
Now in some genetic disease cases,
you need both books to be
wrong to cause the disease.
That's called a recessive disorder,
so cystic fibrosis.
And in some books,
they're so important that
even if one of the books on
the bookshelves doesn't
tell the story correctly,
you end up with a genetic
disease such as Huntington's,
which is what we call dominant disease.
So when we talk about PGTM,
we're talking about the
letters in the books on the bookshelves.
Yeah.
And that's why we have to
know where we're looking,
because we can't just look
at all 23,000 books in your library.
When we're talking about PGTA,
we're talking about the bookshelves.
There are the correct number
of bookshelves there.
And if you've obviously got
an extra bookshelf,
you've also got all the
extra books that comes on that bookshelf.
So the embryo has either too
much information or too little.
With me?
100%, that's great.
Right,
so what you're asking is a genetic
disorder
can actually come from
either of you but we know
that because women are
destined just to take the
rough side of life let's
face it yeah um as we age
our we're trying to make
when we when we create
gametes so eggs and sperm
we're actually creating a
whole new library you're
you're half in your library
to give to your egg and
your partner is half in his
library to give it to his sperm
And what we know is that in females,
that halving process
doesn't go very well and
the bookshelves don't go in
the right way.
So you end up with too many
bookshelves in the egg or too little.
So you would definitely be
looking at testing if you
were having recurrent miscarriage.
There are certain genetic
tests that we look at for that,
but failed transfers,
I think that that could be genetics,
but you're only 37.
So I think I would be
wanting my clinic to be looking at,
A lot more.
I would want them to be
looking at the environment.
And like I said earlier, the Emma,
the Alice's, the DNA frags in the man.
Have we actually looked at him properly?
Because although your embryo
can be genetically normal,
if the sperm isn't functioning properly,
it may stop the embryo
growing at a later stage.
I'm not going to go into DNA
frag tonight because that's
a whole other webinar.
But it's bigger than that.
So I would be looking at everything else,
but I do think that with
failed transfers at the age of 37,
the fact that you've had
five failed transfer tells
me that you've made at
least five embryos.
So let's test them if you do
another cycle.
And let's find out if
they're normal first.
Because I imagine if, you know,
and it's also about,
I'm going to come on to this in a minute,
about family building.
So you can carry on asking me questions.
I'll just keep talking.
I'm going to keep going.
Thank you, Laura,
for sharing your question.
The next one's perfect
because it then keeps me going.
This one here?
No, this one here.
Yeah, the PGTSR.
Oh, wrong one.
Let's bring this up from Sepi.
Can you explain a bit about PGTSR?
So PGTSR is pre-implantation
genetic testing.
I said it again.
Yeah.
for structural rearrangements.
So what happens here is in
certain individuals,
the bookshelves are all
present and the books are all there,
but they're in the wrong place.
So bookshelf one might be
stuck onto bookshelf eight
and it's called a translocation.
So you are normal, you are healthy,
there is nothing wrong with you at all.
But when you try and make gametes,
eggs and spam the
bookshelves were all in the
wrong places so you make
more errors and you make
quite specific errors so
you would make so there's
different types of
translocations they're
normally called reciprocal
or robertsonians can you
give me one an example um
so a really really common
example of a robertsonian
translocation affects
people between chromosome
13 and chromosome 21.
I mean a bit of chromosome
13 is stuck on the top of
chromosome 21 or vice versa
and the reason that one's
really important is because
when you actually make eggs
and sperm when you carry
this translocation you're
basically making embryos
with partial extra copies
of 21 so you're actually
making partial Down's
embryos and they are
incredibly compatible with
pregnancy and life they
aren't as severely affected
as Down's individuals but they are
affected so that's the one I
see a lot of how they come
about they're normally in
families they're a bit like
genetic disorders they are
a genetic disorder but they are so
In essence, you should,
if the maths was to play out,
you should make one in four
of your eggs or sperm
should be unaffected by the imbalance.
Two in four will be affected
and unbalanced.
So have the wrong amount, either side,
less or too much.
And one in four will be like you,
have it but balanced so
that you can make healthy
embryos that way.
So when we do genetic testing for PGTSR,
the finale,
is i actually don't know yet
that's the testing can't do
that yet it can't tell me
whether the embryo is
balanced or unaffected it
just tells me that
everything's got the right
copy number and that's
really frustrating for
patients who don't want to
pass this on yeah i think
it's coming i think that
technology is coming and i
think it'll be with us in
the next 12 months that we
will be able to tell the
difference between an
embryo that has a
translocation like yourself
and is normal or doesn't have it at all
Fascinating.
Because we'd rather get rid
of it if we can,
because any children born
with the same as their
parents is going to have
the same fertility problems
in 30 years' time.
It causes lots of miscarriages,
so anyone with a structural
rearrangement generally has
quite a lot of miscarriages
because of the unbalance.
Thank you for asking that question, Sepi.
That was, yeah, good timing.
We got into the nitty gritty science then,
so this is good stuff.
So hopefully you're still with us, folks.
My brain is like going, whew, there's that,
there's that, there's that.
This is why I need to get this right,
because it's really complicated.
Yeah, no, like, you know, take your time,
right?
And if we have to go over the hour,
so be it,
if folks do want to stick around,
we might break the rules and go,
we'll see how it goes, right?
We'll see how it goes.
Okay,
so Mel would like to know a little
bit about the process and
timeline for PGTM.
This is a great question.
So PGTM is when we're
looking for a monogenic disorder.
Now this is incredibly sad
because normally this comes
because either
you have a family member
that has been diagnosed
with a genetic disease,
like an older relative.
So breast cancer is a really,
really obvious example for this.
So someone in your family
will have breast cancer.
They will then get tested
for the BRCA gene.
Say, for example, it's your mum,
you then have a 50% chance
of also having that gene.
And it's so different to 30 years ago.
We've now got massively good
prophylactic treatment,
which means you can have
your breasts removed and
you can have your ovaries done.
There is things we can do to
prevent the cancer,
but ultimately you're still
in a position where you're
passing that gene on to
future generations.
So that is an error in a
book on bookshelf number 17.
That's where the BRCA gene lives.
Now,
I think the misconception about
monogenic disorders is that
the page that's missing in
the book causes the problem.
It doesn't because the BRCA
gene is a tumor suppressing gene.
And when there is an error,
it stops the gene working.
So it can't suppress tumors anymore.
So the error isn't causing the problem.
The error switches the gene off.
I see.
So BRCA is an example of a
dominant disease.
And if you were working up a BRCA case,
I would need...
blood from the person who carries it.
So let's say it's the woman.
I then need blood from the partner.
So where are we at at this point?
So they've just walked into
your clinic and they've
come to you for diagnosis
of embryos for PGTM.
Okay,
so we're on day one of... They would
come and they would meet me.
We'd do an inquiry.
We'd go through the whole process.
I would look for genetic reports.
You have to have a genetic
report to say what the mutation is.
I would do a full
consultation on these and
then make sure I've got all
the background I need.
Now, the more family members you can get,
and I talk about this as direct relatives,
not cousins,
it has to be a direct relative, either a,
actually offspring is really good,
daughters, sons, embryos, they're all,
because they're the puzzle, right?
They are you and your
partner together is your reference.
But you would take DNA, so blood from mum,
DNA, blood from dad,
And then you would send that
to the genetics lab with
all the information.
If you have got a mum with it,
you would then see if we
can get DNA from her.
If you've got any embryos,
we can use them.
And basically you're
creating a puzzle so that
when we do create embryos
and we try and overlay the embryos DNA,
it's where do they fit?
have they got it have they
not got it are they
carriers and all of those
things and that sort of
thing about timeline how
long would that all take so
about four to six weeks
okay okay so four to six
weeks what i will say about
genetic disease is you
absolutely have to have
genetic counseling that is
mandated in the code of
practice and that and
actually what i will say
about genetic disease some
people choose not to test
When no one's mandating you test,
you can't force someone to test.
We will have to have like MDTs about it.
MDT?
Like a management discussion,
full profile of senior people in the team,
clinical team,
to make sure that we're
happy to proceed and that
we feel the patient's been informed.
But we have to make sure we've covered,
like got all the
documentation to support
treatment without testing.
But yeah,
so the timeline from probably
walking into a clinic to
being able to start an IVF
cycle is probably,
I would gear yourself up
for two to three months.
because of all the
counselling and all the bits,
but the actual PGTM bit,
once I've sent everything
to the genetics lab,
they come back to me about
six weeks later and say, we're good to go,
we're ready.
And, you know, the importance about,
you've touched on, you know,
you're being very
scientific and very much,
this is what happens,
this is what happens.
You briefly mentioned the
emotional side of things.
So, because that's important, right?
The mental wellbeing of
anyone who's going through
this experience,
what does the genetic counselling offer?
So genetic counsellors are
amazing because they will
talk you through the risk
of inheritance patterns,
what the risk of the disease is,
if it's something that's in your family,
like BRCA.
That has massive
implications to you and
your health and your future.
And some people don't want to know.
They don't want to know.
And that's OK.
That's like no one gets to
have a say on that.
That is your journey.
But the genetic counsellors
will help you work out that bit.
Because it's so personal,
like wanting to know that information.
Yeah.
So some people don't want to know.
Yeah.
And there is something
called blinded PGTM.
So we can do it without finding out.
But that is an incredibly
complicated thing to bring up.
And without I could draw it for you,
but I can't talk about it.
There are options.
So there's so PGTM.
Yeah.
I would always say if you've
just found out there's
something in your family,
make sure you've got as
many much information as you can.
The genetic reports are key.
We have to know where we're looking.
And also one bracket.
patient is completely
different to another BRCA
patient because actually
the problem in the book is
different every time, most times.
Does that make sense?
Yeah, it's so complex.
I think the way you're describing this,
and this is what I find fascinating,
is how your patients and
patients across the globe
in various other clinics
how they can wrap their head
around some of the science
and how much they need to
know about the science and
how much you need to kind of
handhold them and say, look, you know,
as much as it can be hard
not to have all the information,
there's an element of trust
and an element of like,
we are going to work with you,
present you information to
help you make decisions.
Is that really what it comes down to?
Yeah.
And I think actually it
depends on how much you want to know.
I mean,
I always ask patients when I'm
doing these calls because I
do a full hour consultation
with PGTM patients because
that's like I said,
that's what my expertise is.
I always ask them how much
they want me to go into it.
Yeah.
Because that's quite personal as well.
Yeah.
They want me to just take it off them.
I will.
Yeah.
But you have to have counselling.
It's a legal requirement.
And I can't do it,
because I'm not a genetic counsellor.
I could do it,
but I'm not clinically
evaluated and licensed to do it.
Yeah, yeah.
I mean,
you're just... Because I know what
you're like as a person.
You do counselling anyway as
part of the service that you offer,
but not officially,
because it goes down the official route.
Okay, thank you, Mel, for that.
Let's take this one from Kath.
If you have never had a positive test,
so never miscarried and
under 35 years of age,
I've heard that testing is
not recommended.
But what if fertilisation is
happening and they are just
failing to implant due to abnormalities?
Thank you, Kath.
It's true.
So under 35.
So let's talk about what
recommendation means,
because my idea of
recommendation and the
HFVA's idea of
recommendation are two very
different things.
The HFVA stance on PGTA is
that by doing testing,
you will not give anyone more.
healthy babies in a cycle of treatment.
100% agree.
I can't change the embryos.
Your embryos are what you have created.
And I can't make them genetically normal.
So if you create eight and there is two,
I'm not going to make more
by testing them.
It's about information.
It's about information.
So the reason the HFA don't
recommend it for under 35
is it hasn't been shown to
be of a benefit when
getting to a live birth.
Now what and who gets to
define what a benefit is?
So I touched on it earlier
and I always talk about family, not baby.
So you walk in your clinic
at 35 and you turn around
to me or a member of the team and say,
I had always dreamed about
having two or three children.
I now feel like that's not
going to happen and I'm
desperate and I just want to have a baby.
I'm going to turn around and say, well,
hold on a minute.
You can still talk about that dream.
And I know you want to be pregnant now,
But if we start creating
embryos now and at 35,
you have about a 50 to 60%
chance of each embryo being
genetically normal.
And for example,
say you create four and I
come back to you and I say
two of them are normal.
You are still only 35 that month later.
Now I can put one of those
embryos back and make
hopefully with 60% certainty,
give you a baby.
But you will walk back in
potentially into the clinic at 37.
And your chance of now
making a normal embryo is 40%.
So shouldn't we have had
that conversation where we pause,
maybe create some more
embryos at 35 so that
you've got your future
family planned out.
So for me, that is a benefit.
Equally, you are 40 years old.
You're sat in the clinic.
you're lucky enough that
you've made six blastocysts
and only two of them are
normal as well and actually
it's the not the nicest two
it's not the ones we choose
in order because we would
choose them normally from
grade yeah yeah so you go
through four go through
transfer number one and
it's not pregnant and we
move on you're 40 you then
go through transfer number two and
and it miscarries you you
lose three months six
months yeah you then go
through transfer number
three and it's another
miscarriage which takes you back
emotionally really hard.
It hits you really hard.
So by transfer number four,
you're actually a bit broken.
And I've actually seen
people walk away from
treatment because it's
called infertility fatigue,
as I think we've all lived through.
So you might get to the
point where you're now 41.
You've got these two embryos
that are normal.
each frozen transfer is
costing the best part of
two and a half thousand
pounds and you're 10 like
there's a point here where
people give up so you may
never use them okay then
flip the argument around
and all six were abnormal
to use all six embryos by
the time you sit back in
front of a consultant
having used them all you're
41 and a half and now i've
got really really difficult
time to find an embryo so
Isn't that beneficial?
Yeah.
So the argument I have for
women at 35 is talked like
I say this so much,
but context is everything.
No,
I will not create any more babies by
doing testing,
but I might give you the
opportunity to create your family.
Yeah.
So I think we need to think
really realistically about
what we just we determine
is a benefit because their
argument is it's not beneficial.
My argument is.
That's not your right to say
what everyone's context is.
It is beneficial for certain
people to know what they've
got before they move on into pregnancy,
which takes nine months to
have a pregnancy.
And unfortunately, we still get older.
Our ovaries still get older
even if we're pregnant.
And then we might feed or we might,
you know, have a newborn.
And then before you even know it,
your baby's a year old and
you're thinking, oh.
Yeah.
Anyway.
yeah no so i mean i could
ask lots of questions about
that but i am conscious
we've got a heck of a lot
of more questions to get
through so so thank you for
that one kath we're going
to jump back to some of the
questions that we had via
instagram um so let's go
for um here we go oh this
is an interesting one uh
testing our two embryos
couldn't occur due to lab error
at the amplification stage?
Is that uncommon?
Oh, we're combining two topics here.
So what did I talk about in
the Vienna consensus?
KPIs.
Oh, yeah.
So one of the KPIs that we
have to adhere to is what
we call our no result rate.
Now, no results will happen.
They happen.
They should happen less than
5% of the time.
Now, a no result is when you do the biopsy,
you send the cells and the lab
send you the results and
they can't detect a result
for that embryo.
That embryo is just as
likely to be normal as it is abnormal.
Depending on your age group,
it doesn't mean there's anything wrong.
Sometimes poor quality
embryos are harder to get
viable cells from,
but we would normally warn
patients about that.
So my no result rate
personally in the Evewell
clinic group is under,
I think it's 1.6% because
Again,
this is down to the fact that I'm really,
really anal about when
embryos are tested and how
we test them and we leave
them to grow quite a long
time and we have lots of cells and hey,
that's what I do, right?
It's the biopsy.
But again, that's a KPI.
So you will see a varying
level of no results clinic
to clinic and it's
something we should ask.
What is your no result rate?
It's a great question.
It does happen,
but actually you can thaw
those embryos out and
biopsy them like we were
talking about earlier.
You can go back to them.
Now,
most genomics labs that I've ever
worked with will not charge
you for a retest.
So you get charged for the initial.
But a lab like Juno, who I work with,
if they give me a no result,
then I can go back to them
for free and do it again
without charge to the patient.
Interesting.
I didn't know that was the case.
I feel like we really are
building a crib sheet of
questions that you can go
in when it comes to PGT.
These are the top 10
questions you should be
asking your clinic when it comes to this.
The top 150.
Well, the top 150, yeah, exactly.
I mean, it's not just 10, right?
There'd be 15 parts to it.
So where do you want to go?
Do you want to take some questions?
There's a couple in here
that are really similar,
and I wanted to touch on them.
No, that one at the bottom is one of them.
Okay, let's go for that one then.
So, Lisa,
thoughts on lack of NHS funding
for PGTA for people with a
history of recurrent miscarriage.
Or advanced maternal age.
Again, yeah, I agree with you.
I think it's a really, really...
tragic sad state that we're
in but the nhs is
underfunded um and these
are expensive processes i i
find it incredibly
frustrating that people
even have to have a fight
to have miscarriage bloods
done i mean i've had women
sit in front of me with
five miscarriages and no
one's actually done any
bloods on them or anything
and it's like it's tough
you know um yeah but yes i
agree with you now i think
there's another question in
here that talks about pgtm now
Well, we touched on PGTM.
I probably forgot to mention
that when you do a PGTM
test with a private
external genomics company,
The technology actually
allows you to see both.
So you not only find out
whether the embryo is
affected or unaffected or a carrier,
depending on what disease
you're looking for,
you also find out the PGTA status.
So you would end up with
like a double result for a PGTM embryo.
So it would come back as,
so let's for argument's sake,
do the BRCA gene again,
just because it's dominant
and it's 50% of your embryos.
So the BRCA gene would be
like affected or unaffected
in the first column.
And on my second column,
it would say normal or
abnormal for chromosomes.
So you get both elements.
So you're not only just
transferring an unaffected embryo,
you know that it's
chromosomally healthy as well.
And one of the questions we
had was why don't the NHS,
the big NHS player that
does all the PGTM funding,
not perform PGTA alongside its PGTM?
So what this particular
clinic is actually doing is
giving you an unaffected
embryo that you're then
going on to miscarry
because of the chromosomes.
And the answer is, I don't know.
It's something that has
frustrated me for many, many years.
I'm sure it's to do with funding and
They actually do their own
in-house testing,
whereas I send mine off to
a diagnostic lab.
It feels like such a missed opportunity,
though.
Yeah.
Who could we lobby, or who could we...
Oh, I need to get on the HFEA board,
which is something I've
been putting off for years.
So, folks,
if you want to advocate for Emma
to get on the HFEA board,
it's just it's a lot of work.
Yeah, it's more it is more work,
but it's important work.
But yes,
we've got nine minutes of a quick
fire round, I reckon.
OK, here we go.
What morphological grading
means if chromosomally normal?
So we still use the grading.
So when I talk about grading,
as you all know,
I bang on about this enough.
So actually,
when you get a chromosomally
normal embryo,
if you're lucky enough to
have more than one and
we've got a selection,
then we go back to the grading, the day,
the development,
and we still priority score them.
So a day six normal embryo
will still not make you
pregnant as much as a day five,
because although it's
chromosomally normal,
It's to do with the
development process and the
speed of the embryo that
also correlates to pregnancy rates.
So we would always get
better pregnancy rates from
day five euploid embryos
than day six and then day seven.
Yep.
Okay.
That's not what drives that.
That is just standard.
You find that more embryos are...
abnormal as the embryo takes
longer to grow.
So 90% or if I think it's
88% of day seven embryos
are unemployed because
they've taken so long to get there.
It's because the machinery is not right.
But we still use the grade and the day,
even when we know the genetic status,
because it helps us have a ranking score.
Yeah.
okay let's jump on into the
next one um what insight do
you get from testing when
all embryos are abnormal
can it help the next cycle
yes if the abnormality is a
pattern then that might
have picked up something we
talked about earlier which
is called the translocation
um pgtsr is then needed so
you can certainly i have in
the last couple of years
picked up three patients with
unknown translocations
because i saw the pattern
in their embryos from what
they were all identical
patterns so it's unusual so
normally you get random
stuff with that with pgta i
don't normally see like you
do see a lot of plus 21s
because it's compatible
with embryo development we
know that downs embryos in plants
reasonably well you see a
lot of plus 18s a lot of
plus 15s they're just
really compatible things it
doesn't mean that they're
the other ones don't happen
they're the ones where the
embryos don't grow I don't
see a lot of like trisomy 2
so three copies of
chromosome 2 because that's
your bookshelf with about 5
000 books on it so it's not
compatible with embryo
development so we don't
tend to see them as much as
we see some of the other
ones like if that makes
sense and chromosome 21 is
quite small it's only got
about 600 books on it it's
not it's it's not a big gene
which would then make sense
so you can get some insight
equally there was a really
nice paper that came out a
couple years ago and it
said that the impact of one
cycle of all abnormal
embryos does not change
your potential for the second however
If you have two full cycles of over,
and I think the number was eight,
don't quote me on this
because I can't remember,
of all abnormal embryos in two cycles,
it can be very predictive
that this is going to be an
ongoing problem.
But your one cycle of all
abnormal embryos does not
correlate to your second.
Fascinating.
You normally get the same
percentages in the second
cycle of normality based on your age.
Yeah, yeah.
I got it.
Okay,
some of the nitty gritty question on
Insta.
Why is it so expensive with
set up fees and a cost per embryo?
So I think this is really different.
And I find this really
interesting because I know
for a fact that we get
charged a per embryo fee, which...
The patients pay per embryo.
Some clinics do a package
fee of up to eight or nine.
I don't know is the answer
because I'm pretty sure all
the genetics lab charge a per embryo fee.
Now,
PGTM is expensive because it's bespoke
and it has to be worked up for you.
So that isn't and it takes
the six weeks and it is expensive.
unfortunately incredibly
challenging so pgtm is a
very expensive process i
think one round of
treatment with pgtm so
looking for genetic disease
with all the workup fees
and all the costs and the
counseling and everything
can be upwards of 12 000
pounds yeah it's it's it is
tough um but i think most
clinics should be charging
a per embryo fee because
that is how we are billed
by the labs yeah i see
Good stuff there.
So now we do have some more
coming through on the chat.
Should we jump back on the comments?
Let's do it.
I'm pretty sure that's my sister.
Oh, yeah.
Yeah,
I just spotted someone in the crowd
called Kelly Phillips.
It might be another Kelly Phillips,
but yeah, this is a really good analogy.
Thank you.
Nice one, Kelly.
Thanks for joining us.
Oh, Laura, thank you so much.
Yeah, for saying thank you so much.
Oh,
thank you so much for saying thank you.
This is so helpful.
That's very kind.
Okay, Danny, a question here.
Should we bring this one up?
Yeah.
So I'm 37.
I have had two failed
natural transfers from two
previous cycles.
My third round has led to
three frozen euploids and
just at the start of the meds for an FET.
What is the four ring survival rate?
Does it differ if they're euploid or not?
um no so there was a theory
a while back that aneuploid
embryos genuinely didn't
survive the thawing process
as well and i think there's
something in that because i
think aneuploid embryos
tend to be poorer quality
sometimes sometimes not all
the time um so they won't
survive because of the
quality not because i don't
think of the aneuploidy um
euploid embryos that have been vitrified
Again, this is a KPI, right?
So this is one of those
things that you'd have to ask your clinic,
their survival rates.
Mine is 98% of our vitrified
embryos at the blastocyst
stage survive and get transferred.
So they do very well.
Vitrified embryos,
which is what all clinics are doing now.
I don't know any clinics
that are doing slow freezing anymore.
They should survive really well.
OK, thank you for that question, Danny.
We've got time for a few more,
so let's go for it.
Oh, this one.
either let's jump here and
then we jump back to
jessica sorry that did
flash up on screen there so
this one from emma can you
explain more about mosaic
embryos please so mosaic
embryos are those that are
determined on the testing
to be mosaic and they are
how do you word it it's
like there's a bit of good
and there's a bit of bad
and we can't be sure of
which is it inherently bad
so has it come from the
eggs and sperm and if that
is the case the embryo
is actually aneuploid and
the mosaic result is
potentially a wrong call,
but it's very unusual.
Or it can,
if you can imagine an embryo
goes single cell, right?
One to two, two to four, four to eight,
eight to 16.
Then let's just for argument's sake,
say one of those 16 cells
makes a mistake.
Yes.
That is called a mitotic error.
And why, let's just for argument's sake,
say you pick up some of those cells,
right?
But the other 15 are fine.
Yeah.
So the embryo itself as a
whole has come from a good
egg and a good sperm.
Yeah.
But an error has been made.
So we believe most mosaic embryos,
that's why they've got
really good potential,
is it's just a mitotic
error that's happened
during the process of embryo development.
We know that embryos are very,
very mosaic.
That's just what they are.
And we know that that is the
only place that the good
cells will then tell the
bad cells to die.
It's called apoptosis.
So that is a mosaic embryos
when we've got a bit of
good and a bit of bad.
However, saying all of that, thankfully,
we're in such a good place
now with mosaic embryos
that we can not only do...
Some genetics labs now offer
an extra layer of testing
to see if it's good in or good out,
if that makes sense.
And we're getting really
good pregnancy rates with them.
So again,
genetic counselling is key
because I wouldn't
personally be comfortable
transferring a Mosaic 21.
because of the impact of
having a mosaic downed individual.
But most of them are, we are now,
I think they have
transferred 2,000 mosaic
embryos with about a 36% live birth rate,
which is good.
And the mosaicism doesn't
seem to be following
through to the babies.
There have been a couple affected,
but no more than a normal,
if you were conceiving naturally.
Got it.
Okay.
Thank you, Emma.
Right.
We're going to jump onto
this one from Jessica.
So would frozen embryos that
were fertilized with sperm
with a DNA FRAG score of
54% still be worthwhile to
subject to PGT testing?
Or does the FRAG score act
as enough of a red flag already?
I'm 32, husband is 41.
So the FRAG, the DNA FRAG, like I said,
I need to do something on
this because it's really interesting.
I might try and get Jonathan
Ramsey to do something like
this with me because he's
really good at all the DNA FRAG.
He's a urologist,
so he does a lot on DNA FRAG in the men.
And I'm an embryologist,
so it would make sense to
bring on an expert in that one.
Maybe that's series two.
Because obviously we're
going to have a series two.
um so yeah the frag um is is
a red flag but it normally
stops embryos developing
rather than causing
aneuploidy it's not the
same it's it's the
aneuploidy's whole
chromosome gains and losses
genuinely come from the egg
um i hate it i hate that as
women we're always this you
are young you are 32 so
there is every possibility
that your your embryos are
going to be genetically
normal but the frag itself
can cause the embryos to miscarry um
That needs looking into.
A 54% DNA frag needs looking into.
A urologist should be
checking your partner out.
That's the right people to
go and see for that.
See if we can change it.
Get it down.
Great.
Hope that helps, Jessica.
I will do something on frag
because it's a massive topic,
but I could be here all
night talking about DNA frag.
I could be here all night
talking about anything.
Exactly.
Okay.
Just doing a quick time check, folks.
It looks like...
Is there one you want to take there, Em?
I think we've got time just for one more.
And just before we do that,
apologies if we weren't
able to get to your
question this evening.
Those that have come through
on Instagram and also those
that have come through via
the chat today.
I think, Em,
you'll try your best to reply
to some of the Q&A.
I might just put some of
them back on the gram and
then answer them one by one.
Because a lot of them I
think we've covered.
Damage rate.
Let's talk about damage.
So.
Yep.
Again, this is a KPI.
All of these things,
coming back to our first podcast.
Yeah, so that was the Vienna consensus.
So we have to talk about damage rates.
I have, touch wood,
I've not damaged an embryo
yet doing biopsy because of
the way we leave them to grow so much.
They are,
I think people think about them
as being really fragile.
If you think about what
they've actually got to do
to make people pregnant,
how any of us are here,
they're actually really, really robust.
They really don't mind what
we do to them too much.
It comes from training and
skill and technique and all
of those things.
And in the right setting,
embryos do not get damaged
through biopsy if it is done properly.
And that is all I'm going to
say on the subject because
I believe that there is a
way to do it and a way not to do it.
And I do quite a lot of
biopsy workshops and I have
done them all over Europe
because it's about making
sure people are doing it safely.
But embryos also are not fragile.
By the blastocyst stage they
are incredibly robust.
I will say that.
So we also know that
biopsying an embryo doesn't
change its outcome because
there was a paper on that as well.
So embryos that had been
biopsied and not biopsied,
same pregnancy rates.
So studies have been on it.
That's been done.
We're happy with that.
Let's pull one in because I
think this is a really good
question that has come in from Lauren.
Thank you, Lauren, for asking this.
What sort of questions
should we be asking a
chosen clinic before we
allow them to biopsy one precious embryo?
Those questions.
So you've got a four or five
layer approach there.
When do they biopsy them?
How big are they?
Are they letting them get to
the point where they're
really advanced embryos so
that you're fundamentally
only biopsying viable embryos?
Blastocysts can be early
blastocysts and still fail.
That's why I leave them to
be fours and fives,
which is the grading system
we will talk about.
What's their no result rate?
What's their freezing survival rates?
Because ultimately these
embryos have to be frozen.
So the most important KPI to
your outcome is,
are they going to come out
of the freezer okay?
Yeah, I mean,
I do biopsy a lot of single embryos,
I must admit.
And they go as well as doing
a group of embryos.
But those would be my
questions is mainly around the freezing.
Yeah.
Yeah.
Great.
Wow.
There we go, folks.
I think we're going to have to stop there.
Goodness me, this topic's huge.
It is a huge topic and it
realises we could probably
go a bit more niche on a few.
What we will say is do come back to this.
You know, as someone who's hosting this,
my mind is melting with all
the information that Emma has shared.
And I mean that in a positive way.
We do hope that it has been
helpful for you today.
Do come back to it.
So follow Emma on Instagram
at Emma the Embryologist,
where she'll link you to
all of the places.
You can find Emma the
Embryologist now on YouTube.
So we've got two previous
podcasts and this one will
be available soon.
As well,
coming soon in about a week or so.
We are also syndicating to
all the podcast platforms, so Spotify,
Apple Podcasts.
If you want to go and find
all the links to the podcast,
it's hatchingaplan.transistor.fm.
So do go check that out.
you can come back to this um
please do share it with
other folks who are out
there who you feel would
need some support do spread
the word uh emma really is
i mean as you can tell an
absolute expert and super
passionate about what she
does she really is here to
help so yeah keep on keep
on uh checking in and yeah
i will get some of these
put on actually because some of them um
I mean,
I think we've covered most of them.
I'm just looking through them.
So I hope it's been really helpful.
And then just feel free to
DM me if I haven't answered
a question that you wanted me to.
I can probably put it into 18 paragraphs.
Yeah, that's it.
I mean, it's...
yeah it is a skill in of
itself i think to taste
something so scientific and
turn it into something it's
hard it's hard to get your
head around this yeah it's
really hard yeah i think we
we can do more and maybe
the practical crib sheet
stuff we could start
focusing on yeah definitely
Any suggestions, throw them our way.
Absolutely.
Because we need a whole load
of content for series two.
We do.
So just some lovely messages coming in.
Yeah, thank you, Lauren, for that.
And very kind, Hector, Kelly, Hannah,
Danny.
Oh, wow.
Some very, very kind messages coming in.
So thanks so much for sticking with us,
folks.
And from Emma here,
thank you so much for
sharing all your knowledge.
We've chosen the Evewell, West London,
and we'll be starting our
journey there soon.
Thank you.
Oh, that's nice.
I'll see you there.
Wonderful, Emma.
Thanks for sharing, folks.
Really do appreciate all the
questions and everything
that you've asked today.
Please do come back to this
and do check out the other
episodes of Hatching a Plan.
I'm Simon signing off.
And I'm Emma,
off to bed before work tomorrow.
Indeed.
Take care, folks,
and we will speak with you soon.
Bye for now.