Now if you're stressing out because you're not getting pregnant and you want to take
the fast route, then this video is for you.
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Hi, This is Dr Marc Sklar, The Fertility Expert, and you're watching FertilityTV, your YouTube
channel dedicated to empowering your fertility and helping you get pregnant if you're trying
to get pregnant, subscribe and hit the bell so I can help you too. Dr. Park spent the
first 10 years of her career as a fertility physician at Columbia university in New York
city, considered to be one of the leading IVF programs in the United States. She joined
the San Diego fertility center in 2012 where she combines her extensive experience as an
infertility physician with personal care. In 2017 Dr. Park was named top doctor by the
San Diego County medical society in San Diego magazine.
Okay, so we are back with Dr. Park from San Diego fertility center. If you haven't watched
the other video where she gives you all the information, the nuts and bolts about fertility
treatments and your options and go check it out. But in this video we're talking about
genetic testing. So she's going to give us a little bit of education about what all the
genetic testing means and what your options are.
So this is a very common question I get and people understandably are very confused ,okay
So let's divide into two categories. So there is the DNA mutation and then there is the
promo zone number. So DNA mutation. So the egg source gives 23 chromosomes and the sperm
source gives 23 chromosomes to make a 46 chromosomes embryo,
which all of us have 46 chromosomes
embedded in the promise of this. Our DNA that that tells us our, eye color, our hair color,
how tall we are, etc. And it's very normal to have mutations in. You're gaining a lot
of which honestly nothing, but sometimes they do. So an example of this, assistant fibrosis,
which is a mutation from some numbers set cause this fibrosis is what we consider autosomal
recessive disease, meaning he both from loss see to have the mutation of chromosome seven
to actually be sick. What are the only one from awesome has it.
Then you consider a carrier because the other was some doesn't have mutation. Okay.
But there are diseases that are what we call horizontal dominant. An example, this is [inaudible]
disease, which means that one chromosome has, it doesn't matter that the other person doesn't
have it forcing. And so one of the responsibilities of your healthcare providers take a family
history and be able to glean if there is any evidence of these DNA mutations, you should
be able to pick up autosomal dominant history just based on a conversation with a patient,
but also might be sets of diseases are tough because how would anybody know that they a
carrier for mutation if they're not sick. So that's where DNA mutation comes in. Okay.
Okay. So you are given these mutations from your egg source and sperm source, they don't
change with time, so whether you're 40 or whether you're 25 it's the same.
Yeah. Okay. The problem is this, there are hundreds upon hundreds upon hundreds of mutations
and we're just not people on the test and all of them. And right now the most comprehensive,
comfortable only tests for about 300 of them. Okay. Okay. And so it's simple. All it requires
is a blood draw. Okay? And the test really varies by company, but it's going to be a
a couple of hundreds of dollars estimates more between, I would say 250 and about four.
It's probably a ball talk. Okay. And they draw your blood and they'll run for about 300 different
mutations. But the thing is this, that even if you come back negative for mutation, that
doesn't mean move half the mutation. It just needs to the best of their ability. We have
the mutation because there's an error rate, right? You can't detect every single, and
I think of all the mutations that weren't tested for and that shit, right?
But this really has become a very commonly requested test. And I do believe it's the
way of the future, right? Is our DNA technologies and fancy that the future is going to be,
that everybody's naturally going to phone to get the DNA mutation secrets for right
now, where people capable of only about, okay. And they would do that before they start the
IVF. That is our preference. Okay. And it takes about three weeks to get the results
back. So sometimes I have patients that say, Oh my gosh, yes, we want to do it. Oh, and
by the way, I'm getting my period next two weeks, I want to start treatment next to me.
Right? So I remind them that, but we're not going to have those results back. Right? And
I think of all the people that your family members or friends who have children who are
healthy without even knowing these results, right?
And so sometimes just because you can do test doesn't really mean you should do it. And
the way I counsel my patients is what are you going to do with this inflammation? And
if you really think that, gosh, it would really make me feel less anxious if I just sort of
knew that I did everything possible to make sure I had a healthy child and I say do it.
But I have other patients who actually become anxious because of these Rascals. And so I
told them, don't do it. You guys have been trying for a year by your, with sex, without
even knowing this information. So why would you do it now if it's just went to meet you
want lunches? Okay. Okay. And then you can go the PGT. Alright, so that is DNA mutation
testing, which is in it. The way you bore you doesn't change.
Well, let's contrast that now to what people have called for wisdom testing or comprehensive
chromosome screening or preimplantation genetic screening. Preimplantation genetic testing.
Dash a. It's all the same. All the different letters. Oh my goodness. Right? So now what
they want us to call is preimplantation genetic testing. Dash a which stands for aneuploidy.
Okay? But what is aneuploidy? So we get 23 chromosomes from the egg source, 23 from the
spring stores. However, when they combine, sometimes mathematical errors happen and these
mathematical errors are more common when the X versus older. Okay? So this is not something
you're born with. This is a new event every month. Okay? So again, a woman has 46 chromosomes,
but right before she obsoletes her age, we'll divide the chromosomes in half. 23 23 and one
of the 23 has to go meet the sperm, which already has 23 chromosomes. But as a woman
gets older, when she hasn't divided those chromosomes in half a chaplain to every month
at the time of ovulation, the older she is, the more likely the division is.
Okay. So maybe she'll pull 24 one way and then this then mathematically has to be 22
so 24 chromosome schools to meet the 20 chromosomes from the sperm.
Then the sum is 47 not 46
right. And for example, if that extra chromosome was chromosome 21 that is how you get down
syndrome. But extra chromosome could be chromosome number one or 10 or 18 it doesn't happen.
Correct. Or if you're missing a chromosome, right. What if you have 22 process from the
eight but should be 23 going to meet this sperm? Again, depending on which chromosome
is missing. For example, if it's missing an X chromosome, that child whose only has just,
Nope, no X and just either another X, it's Turner syndrome case. So these incorrect numbers
of chromosomes, which is related to the age of the woman is another type of genetic testing
you can do. You can only do that the for pregnancy arguing
idea, right? Right. So when IVF you created the embryos and when the find these old, you
take a little sample of every unreal and then you test or you don't have to, you got friends
on your old reset or I you Y right? Or even idea, but you chose not to do the chromosome
testing. You will know this answer when you're three months pregnant, no blood tests called
cell free DNA or people call it an IPT, noninvasive prenatal tests with the same result the ever
made is actually less when you do it, when you're pregnant, everybody is actually higher
when you do it through idea because you're doing this such an early stage and also a
lot of people feel that, okay, I've done PGT a, it's going to have a healthy baby. That's
not true. I've been in practice 15 years and you don't practice long enough. You will have
your share of surprises. And I have seen it go both ways where I have transferred a normal
PGT, a embryo. And when she was three months pregnant, the blood tissue that wasn't normal.
And I just recently had a delivery of an Emory that I transferred that was abnormal to not
to be. And so just understand, just because a trust
exists doesn't mean you have to do it. But whenever you do any tests, ask yourself, how
is this going to change the management of my pregnancy because it's expensive. So there's
not really going to change what you want to do with theirs. Do you really need to do the
test now? One advantage of doing that tests, gender selection, absolutely. I fully support.
I understand, right? So if you have three girls at home, I understand that you would
like to have a boy or right versus right for some people actually do it for certain medical
conditions. Right? But to do that you must do PGT. So you have to do IVF and then you
have to get a PGT egg so we can know the gender of the evidence.
Okay. Are there specific cases where a patient comes in with a certain history and it makes
you say, you know what, based on this, I highly recommend doing the genetic testing before
we transfer the embryos. Yes. So there, there, there's a type of disease
called X linked disease where the disease, affect predominantly boys. And so in that
case, if they have that disease, I'll tell them, I really think you should do this and
let's just transfer for, or there's another type of disorder. So when you do we go back
to the DNA testing. I had mentioned Huntington's disease, right? So let's say you are a carrier
of an autosomal dominant disease, or let's say you're not, and you carry cystic fibrosis
in soon as, yeah. Right. So when that case, we do recommend doing IVF, we biopsy the embryo,
but we're not looking at the number of chromosomes. You can actually create a probe to match that
DNA sequence, to find it, to find it at the embryos and the Evers that are expected. Just
pull them out. And those are, those are the main reasons why you would say for medical
needs. Yep. Yep. Or let's see, a woman came to me, she's had previous counters, like usually
over 50% of miscarriages are due to incorrect number of chromosomes. So in that case, I
would tell what, listen, I would really recommend you do the IVF. Let's check the number of
chromosomes as PGT dash Amy if each of your embryos, because I suspect that's probably
the reason for the miscarriage. So let's try to transfer the embryos.
Great. Well hopefully that wasn't over everyone's head. No, but I mean I don't think it was,
but as you're listing it, that should really give you a good solid foundation for genetic
testing, when to do it, what its purpose is, and hopefully that helps you on your fertility
journey. So thank you so much for, for all of that and thank you for watching everyone.
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