#317 Prenatal Mock Genetic Counseling Session
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The spring cohort starts soon on January 27th, so apply now before it's too late. The program includes two 10-week instructor-led courses. Armed with a basic science background, you'll earn a certificate from the Johns Hopkins School of Medicine upon completion. You'll also gain practical skills and insights from leading instructors that will give you a competitive edge in genetic counseling and related fields.

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Hi, I'm Keira Dineen. I'm the host and producer of DNA Today.

Hi, my name is Annette Greenspan. I'm a GC student, second year at SLC. Sarah Lawrence College, for those that don't know. If you know, you know. This is the second installment of our mock genetic counseling session series. So in this session, we're going to be doing a prenatal case. Since I work in prenatal and see patients part-time two days a week, but was full-time for about three, four years, I'm going to be playing the prenatal genetic counselor, and then Annette is going to be playing the patient.

In this session, we're going to be talking about a very typical, I would say the most standard and common indication for a pregnant patient to see a genetic counselor. And that's for this lovely term, advanced maternal age, which is slightly better than geriatric pregnancy.

So we're making very slow progress there. But someone that is 35 or older at delivery or was 35 or older when their eggs were frozen and then used for the current pregnancy. So we're going to go through that just to give you a sense of what a prenatal session looks like, sounds like. And for people listening to the audio version of this, just know that this is fully filmed in person on our YouTube channel. So be sure to check that out. All right. Enjoy.

Hi, Maya. I'm Kira Denis. My pronouns are she/her. I'm the genetic counselor at the practice. It's really nice to meet you. Nice to meet you, too.

So Maya, why don't I give you an overview of what we'll chat about today before we get started, just to give you a roadmap for today. Does that sound good? That sounds great. Okay, great. So we're going to start with confirming some information about this pregnancy, and then we'll talk about just how this current pregnancy has been going for you and any exposures you might have had, symptoms you might be experiencing. And then we're going to talk about family history and talk about if you used any donors, we'll talk about their history.

And we'll go through screening options, including genetic screening options and then ultrasound. And we'll hopefully answer questions you have throughout. If I can't answer a question, we might bring in one of the nurses to answer a question for you, or it might be something I have to look up and get back to you. But any burning questions as we start with or anything on your mind headed into the session? I'm just a little nervous. Sure.

Scared would be the right word. Okay. All right. What are you scared about? I don't know. Like, the way that they told me, like, to come to genetics was, like, because I was 40 years old, that I had a higher risk of having, like, a child with some kind of abnormality. And so, I mean, we've been wanting this for so long, you know, that it's kind of scary to, like, just even think about anything going wrong.

So I'm like a little nervous, a little like nerve wracking, a little like scared. Yeah.

So, yeah. And more related to age you were bringing up and like that's what was kind of making you a little bit nervous, I guess, when you were booking this appointment. Yes. Okay. Because they did mention that after 40, like the risk skyrockets or something like that. Okay. All right. So let's break that down and figure it out because my concern level is very low at this point and I want to explain why that is. Okay. So hopefully I can lower any anxiety and kind of fears and scary feelings you have right now.

now. Good. All right. So let's figure that. Let's start with that, right? Let's just do that right out of the gate. So was this a naturally conceived pregnancy? No. Okay. So did you use IUI, IVF? IVF. IVF. Okay, great. And then did you use your own egg or a donor egg? It was my egg. Your egg. Okay. And then we use a donor sperm. Okay. All right, great. And then all of us, my partner, Ellie, Elisabeth. Okay. We're

legal name, I guess. Sure, yeah. And the donor, we all got some kind of testing because we wanted to make sure that we, like, we wanted more kids. And so in order to get the same sperm donor for all of the kids, we wanted to make sure that we picked the right one based on all of... At least that's how I was explaining. Yeah, yeah. Okay, so if Ellie wanted to use one of her eggs for one of your future pregnancies as a couple...

Yes. Okay. Got it. Okay. So it sounds like through the IVF center, you probably did something called carrier screening. Sounds familiar. Yes. So to look to see if you and Ellie were a match for any condition that the sperm donor is also a match of. So to make sure that you're not matching for that condition. Okay. Yes. So that would be carrier screening. Yes.

And I know through IVF, everybody's offered carrier screening. And, you know, it's just a matter of if you decided to do that or not. But it sounds like, yeah, you certainly did. Okay. And then, so then when you went through egg retrieval, do you remember how old you were? How many years ago it was? We can figure out how old you were. Yes, I was 37. Okay, so about three years ago. Yes. So that's important. And the reason I ask that is so I can answer your question. So the...

Number that we use in order to figure out what the chance is for a baby to have a certain random genetic condition is either how old the person is at delivery if they did IUI or naturally conceived. But for IVF, we actually use how old you were when the egg was retrieved.

So we're already knocking it down three years right away. Something in my favor. Yeah. So this is going in your favor. So for this part of the conversation, we're basically, this is like three years ago in the past, like we're pretending you're 37 for this conversation. Good. Yep. So the reason for us to even be asking about age related to the egg is because we're

of what that chance is for a baby to have, I said, a random genetic condition and specifically a chromosomal condition. Do you know what a chromosome is or should I kind of fill you in on that part as well? - Do slightly remember some bio. - Yes, yes, something sophomore high school. - Something, yeah, but please fill me out and tell me everything. - I just want to make sure I don't explain something to you that you're like, "I already know this. Why is she talking about this?" - Oh, please, no, go ahead. - I just don't want to over-explain things to you, okay.

So the way I think about it is we're all born. So people that are assigned female at birth that have ovaries are born with all of the eggs that they'll have for their whole life. So we start with all the eggs that we'll have. And as we get older and we go through different menstrual cycles, we start losing our eggs. And as we're aging, so is our eggs.

And so I think about it like our eggs, as they get older, they start losing the skill of being able to count chromosomes. And those chromosomes, if we have an extra, that can lead to a certain genetic condition. So I know because I'm a nerd and I've done my own karyotype when I worked in the lab a few years ago, I have 46 chromosomes. That's a typical amount. Most people have 46 chromosomes.

Some people might have 47 and have an extra, and some people might have 45 and have one missing or a different number there. So that's what I'm referring to when I'm talking about chromosomes. And so

As our eggs get older, it's harder for our eggs to count our chromosomes. And so it might have an extra or a missing chromosome so that when the egg is inseminated by the sperm, then we end up having, as I said, like an extra or missing one. And that could lead to a condition like Down syndrome you may have heard of. And then there's some more rare conditions that most people haven't heard of. That would be the most common one. Yes, that makes sense.

And then so, you know, when it comes to being 37 of your egg being retrieved for this pregnancy, is it slightly increased compared to 36? Yes, because that chance increases over time of if

there is an extra missing chromosome in that egg. Is it drastically different than 36 or 34? No, it just slowly over time, that chance of having a missing or extra chromosome just increases over time. So it's not something that I'm concerned about. The chance is about 1% of having a baby with

an extra missing chromosome condition based on being 37 at the time that the egg was retrieved. So hopefully that's a lower number than you were thinking in terms of like 1%. Okay. It is definitely a lower number. Is 40 like for some reason like a big number that people refer to? Because like when I said I was 40, it was like...

Boom. Okay. Yeah. So that's not there really, to me, I don't see there being a certain number where it's like, oh, now the number is like that, that chance of having a chromosomal condition, like drastically increases. It does increase over time.

And if we look at that on like a graph, it does increase more steadily as we are getting older. But there's no magic number where, oh, all of a sudden, if someone turns 35 or 40 or 45, that it jumps dramatically. So it just increases over time. So there's nothing that I'm really concerned about in terms of like, you know, even if you did have the eggs retrieved at 40, would the chance be higher? Yes, but it would be slightly higher.

Okay. Yep. And then I know you mentioned like with that in future pregnancies, you might use Ellie's eggs. But if you end up, you know, if you during the egg retrieval you have when you were 37, if you ended up getting even more eggs and you end up using one of those, and let's say you're 42 or 44 when you're pregnant, we'd still use that 37 age unless you did another egg retrieval.

So we've literally frozen them in time in that sense. Okay. That's great to know. Yes. So this is what would be for every, like if I were to have more, like another pregnancy, another baby, like the eggs from the same... If you used it from that same retrieval. Okay. Sometimes people didn't get enough eggs in that retrieval. And so sometimes people do multiple retrievals. So I know the road with IVF is not a short one, you know, and sometimes it can be more straightforward for others, but...

It's always complicated for everybody with IVF. Yeah, we were only able to get five, I believe. Okay, yeah, yeah. So it's different for everybody. I've heard less, I've heard more. So yeah. And then part of this conversation of knowing for this specific pregnancy in terms of that chance for having a baby with an extra missing chromosome condition like Down syndrome, IVF centers will offer doing an embryo screening to look at those conditions. Did that come up in terms of being offered?

for you and Ellie for this pregnancy? It did. They did offer us something to test the embryo. It was PGS, PGT, one of those. Something like that, but it was very expensive and we couldn't afford it at the time. It is. IVF is so expensive and sometimes you're making decisions on what's the most important in terms of proceeding. Absolutely. Certainly. Yeah. Okay. We had to put some priorities. Of course. Yeah. And a lot of people do. And so...

We'll talk about later in the session some genetic screening options that we can look at these extra missing chromosome conditions, like the most common of them. So we'll talk about that, and that might be something that you're interested just based on what I'm learning about you so far. Okay, perfect. Thank you. Of course. Do you know about how old the sperm donor was at the time they gave the sperm? I believe he was 25. 25? Okay. Okay.

And also, I know this is your binder under here that the front desk gave to me that you gave to them at the beginning. So, you know, we can certainly refer to that, especially when we get to family history and different parts of the session, too. Perfect. So, because I know a lot of people, it's hard to remember all details of a sperm donor. And you're like, which one did we end up going with? Was it this family history or that? You look at so many. Yes. And then, like, you, like...

you know, decide on one and then like all the rest of the information just kind of like jumbles. Oh, certainly. Yeah. It is a lot to keep track of, let alone our own family history. Absolutely. Yeah. So before we get to that, I wanted to ask a couple questions just about how your pregnancy has been going so far. Have you had any symptoms you've been dealing with or any complications with the pregnancy so far? No complications. No.

A little bit of nausea, but I was told that was normal. Unfortunately, yes. Yeah. You and most people at this point in pregnancy, because you're around 11 weeks, I believe. Yeah. They told me just to hold until like the first trimester. Yeah. Yeah. And then it'll get better. So...

Crossing my fingers. Hopefully two weeks it gets better. Because once you hit 13 weeks, I hear from so many patients when I'm catching up with them in a couple weeks, like, oh, yes. Fortunately, I'm in that crowd where it's gotten a lot better. So I'm really hoping that for you as well. Waiting for that day. Yes. Yeah. Yeah. Okay. Any other complications or anything coming up for you so far? No, nothing. Just craving a lot of pickles and ice cream. All right. So it's together or separately? Weirdly enough.

Together. Together. All right. It's very weird. Not at the same time. Okay. Okay. That's what I was asking. I was like, are you eating pickled ice cream? I'm eating ice cream and followed by pickles. I know the sweet and the salty and the sour and all the combinations. Okay. Okay. And hopefully Ellie is helping you out with that of like going to the store when needed. Oh yeah. Okay. All right. Good. Good. Here are some points there. Okay. Great. And then just in terms of what you may have been exposed to during pregnancy, we ask everybody these questions.

Have you had any alcohol since you found out you were pregnant? No. Okay. And certainly being IVF, you kind of know exactly, you know, when you're conceiving. So that certainly helps. You're like, okay, now is when I stop. Okay. And are you smoking any cigarettes or marijuana? No. Okay. And any other recreational drugs or anything that you've not been prescribed? Okay. And have you had any x-rays or CT scans, MRIs, anything like that? Okay. Okay.

And have you had a fever, any sickness, infections? No. Okay. All right, great. All right, looks good. And then just in terms of a little bit more about your medical health and history there, do you have any conditions, any medications that you're taking now or have been for a long time? Well, I'm taking the prenatals vitamins. Okay, great.

And they just prescribed me aspirin, but I haven't started taking it yet. Probably a low-dose aspirin. A lot of people are prescribed that. Yeah, baby aspirin. Okay. Yep. Baby aspirin. Yep. Okay. And any conditions, diagnoses that you've just had in your life or anything that is in charts at your GP's office, anything like that? Nope. Okay. Healthy. Perfect. Nice and boring. Yes.

And any allergies we should be aware of, especially medications. Not that I know of. Okay. And a latex allergy or anything. Okay. Not that I'm aware of. Okay. Wonderful. And then just confirming you've never been told by a healthcare provider you have any heart issues, kidney issues, liver issues. Like that's all just been normal or just nothing to comment on there. Nothing. Okay. Healthy. Awesome. Awesome. Like you said, boring. Boring. Boring. Which is good. Let's keep the boring going. Yes.

For the first time is good. Yes, exactly. You want to be a boring patient on my schedule. Certainly. That's always a good thing. And then have you had any bleeding or spotting during the pregnancy at all? No. Okay. Wonderful. Okay. That's great. And then in terms of your cycle length, are you relatively normal or do you have long cycles, short cycles, or just really irregular? Yeah.

Pretty regular? Yeah. 28 days-ish, kind of somewhere in that range. 30-ish. Yeah, 30-ish. Okay. Okay, great. Awesome. So we'll talk about pregnancy history if you have any. What number pregnancy is this for you, Maya?

Technically, it's my second pregnancy. Okay. And what was your experience with the first pregnancy? Was that a full-term birth, a termination, a miscarriage? No, I had a termination. I terminated pregnancy. Okay.

When I was in college. Okay. Sure. And anything medically that we should be aware of that was different with the pregnancy or was it just personal reasons and life status and everything at that point? Just a personal decision. No worries. Yep. Just want to make sure that there's nothing I should be aware of in terms of risk for this pregnancy. That's why I ask. Thank you. So college. So what about like what year-ish would that have been, you think? Gosh, I'm horrible within years. Yeah.

So probably your early 20s, right? For college age. I was about 18 years old. Okay. Great. So... Okay. So like 2003-ish, something like that? Does that sound right? Yeah. Okay. And then was that pills, a procedure? It was pills. It was the pills. Yeah. Okay. I did it at home. Okay. Yeah. All right. And no other pregnancies besides that one and this current one? No, that's it. Okay. All right.

Looking to jumpstart your career as a genetic assistant? These essential roles involve patient communication, data management, genetic testing coordination, and admin tasks, making proper training a must. The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine is a top choice. DNA Today listeners rave about how this course boosted their genetic counseling skills and prepared them for grad school.

The spring cohort starts soon on January 27th, so apply now before it's too late. The program includes two 10-week instructor-led courses. Armed with a basic science background, you'll earn a certificate from the Johns Hopkins School of Medicine upon completion. You'll also gain practical skills and insights from leading instructors that will give you a competitive edge in genetic counseling and related fields.

Learn more at dnapodcast.com slash sponsors or simply search Genetic Assistant Online Training Program, Johns Hopkins. All right. And then, so talking a little bit about

Family history then. So I'm going to be asking about your side of the family since you used your egg and then we'll talk about the donor side if you know anything and I have a feeling we'll go back to this binder to look at some things there. So don't have to remember anything. Absolutely. So any medical concerns for yourself? Any diagnoses, conditions? Apparently I'm healthy so far. Hi, good. And do you have any siblings? Yes.

I do. Okay, great. How many siblings do you have? I have two brothers and one sister. Okay, great. And are they full siblings, half siblings? They're all full siblings. All full siblings. Okay, so you said two brothers and a sister? Yes. Okay, great. And any health issues for your siblings? No, not that I know of. Okay, great. And any of them have kids? Yes, my brother has two.

Two kids. Okay. And my brother has three kids. Three kids? And my sister has two kids. Okay, great. And your nieces, nephews, they're all doing well? No health issues? Healthy, very wild children. Yeah.

So trying to keep up with them, sleep deprivation for your siblings. I know what's coming. Yes. Yeah. You do get kind of a preview when you get to be an aunt or uncle beforehand. Absolutely. Yeah. And then how about your other brother? Any kids for them? No. Okay. And is that by choice as far as no infertility issues they've shared? Yeah. He's not there yet. Okay. Gotcha. And then how about your parents? Are they living...

They are. Okay, great. Any health concerns for them other than the typical age-related issues? Um, no. I mean, my dad may have high blood pressure. Okay, sure. Yep. But other than that, I think they're both okay. Okay, awesome. And then we'll kind of look, let's see what I can learn about the donor here. Um...

So it looks like then the donor has a few siblings, some half-siblings, and that everybody seems to be relatively healthy. There's one full brother that has diabetes type 2 and hypertension. That sounds familiar. Yes. They did mention that.

And doesn't look like the donor has any nieces or nephews through those siblings. And that's all by choice. So nobody that is reportedly experiencing infertility or anything like that. No. Just drawing this as I talk about it. Perfect. And looks like the donor's...

father had prostate cancer. Does that sound familiar as well? Yeah, they did mention that, but they also mentioned that it was at an older age.

Yeah, it looks like he was 66. So when we see that prostate cancer is diagnosed under 50 or really other cancers as well, and if it was a fast-growing prostate cancer that really needed more treatment, that's when we'd be more concerned. But since there's not a lot of notes there, it doesn't seem like it's one that's like was as serious and a concern for family history.

So Maya, I'm just going to ask some questions, general catch-all questions to see if I missed anything. And the individuals we talked about, I'll also look through the donor's family history as well again at the end. But we can also think about your parents' siblings, so aunts, uncles, first cousins, and grandparents. So we can include them in these list of questions as well. Okay. Anyone in the family with intellectual disabilities or autism? No. I mean, I have a...

cousin of mine who has a kid with Down syndrome. Okay. And is that on your mom or dad's side of the family? That's on my mother's side. Mom's side. It's one of her brothers has a daughter and then her daughter has... So your cousin's child. Yes. Got it. Okay. A daughter with, try something 21. Okay.

And anybody else in the family with Down syndrome? Trace me 21. No, that would be the only one. She was the only one? Okay. And any chance you know about how old your cousin was when she had her daughter? She was young. She was maybe 23. Okay. And then anybody with birth differences? So anyone born with a hole in their heart, extra fingers, toes, a hole in the spine, anything different? No.

No. Okay. Alright. And then anyone experiencing a stillbirth or an infant death that you know of? Nothing I know of. Okay. Anybody experiencing multiple miscarriages or a period of infertility? Nope. Anyone experiencing menopause in their 30s or early 40s? No.

And anybody diagnosed with cancer other than we saw that the donor's father was diagnosed with prostate cancer. Anybody else with cancer, especially under the age of 50 when they were first diagnosed? Not under the age of 50. There's a few cancers on both sides, my mom and my dad. Okay.

But I don't think any of them were before 50. Okay. So on your dad's side of the family, do you remember who has cancer? Or you just remember there's some people? So my dad has a brother and a sister. And her brother has had prostate cancer. But I think he was in his 70s. Your dad's brother? My dad's brother. Okay. Sorry. Got it. Yes. My dad's brother had prostate cancer. And I think he was around 70-something. Okay.

And do you know if when he was diagnosed, he pursued treatment right away, if it seemed more serious or if it was more like, we're going to keep an eye on it and see if anything changes with that? Yeah, I think, I don't remember very well, but I think it was more of a, we're just going to monitor. Okay. And then anyone else on your dad's side or it was more on your mom's side? On my dad's side, his sister has something...

but we don't really know exactly what it is. It's like some psychiatric diagnosis, but I'm not really sure what it is, but no cancer. And then on my mom's side, my mom has three brothers and one sister. So one of those brothers is the one that had- - Their grandchild has Down syndrome? - Correct. - Yes, okay. - And then he's healthy. And then my aunt, so her sister, had breast cancer. - Okay.

And she was in her 60s. And then one of her brothers has a basal cell carcinoma, I think it's something like that, in her nose. Sure, yep. In his nose, sorry. And the other brother had prostate cancer as well.

So the other brother. So is that the one that has the grandchild with Down syndrome? No. Has prostate cancer? No. Okay. I got that wrong. Does she have three brothers? Is that why I'm missing one? Yes. Okay. All right. Thank you. Okay. Yeah. Three brothers, one sister. Gotcha. And then the last one has prostate cancer. Okay. Thank you for clarifying that with me. Yeah. No problem. And then the prostate cancer, do you think that's over 50? I think you said at the beginning that everybody was over 50. Oh, yes. He was definitely like 70s. Okay. Okay. Okay.

Any other cancers that I'm missing that at least you're aware of in the family? I don't think so. Okay, alright. And then anybody, I know you mentioned your paternal aunt, so your dad's sister, has some kind of psychiatric condition. Anybody else in the family, especially if it's a more severe condition like bipolar disorder, schizophrenia, sometimes that can present as more severe conditions?

No, honestly, she's the only one that I know that has had a diagnosis. Okay. And I don't even know what the diagnosis is. You know how people don't talk about that? Yeah, it can be challenging even if she has a diagnosis that might not be talked about in the family or she didn't pursue anything in terms of, you know, a diagnosis at that point and everything. Okay. And anybody deaf or blind from a young age? No. Anyone using a wheelchair, crutches from a young age? No. Anyone with seizures or blood conditions? No. Okay. Okay.

And do you know what countries or areas of the world your ancestors are from? So I am from Costa Rica, but my ancestors are Opal-ish. Okay. And do you know for the donor? I don't know if I can look here. The donor is Italian. Okay. Yes, I see that on there. Okay. All right. And since we're taking family history, anything...

in terms of your partner, I think you said Elizabeth, right? Yes. Anything that, as I was asking those questions, did you think about anything with her family history or did you have any questions about hers? No, I think, I mean, her family's pretty small and,

Everyone seems pretty healthy. Okay. So I'm the one that we have to worry about as I've been told because we're Ashkenazi Jews. Okay. That was going to be one of my other questions. Yes. So they always told me to say that. Yes. Yeah, definitely. Okay. Yeah. I mean, just looking at family history, which we can look at together if that's helpful. Yeah.

So, looking at the family history, I don't see any conditions that I'm concerned about. Most people in their family, especially when they come from larger families like yours, we see a few cases of cancer. So, in general, that's not something that I'm concerned about on your dad's side because as far as we were talking about, there was only one individual with prostate cancer and your uncle was older at that point and it wasn't a really fast-growing cancer that was really concerning.

On your mom's side, I'm a bit more curious just because two of her siblings had cancers that I think about as being related to the same gene, potentially. So there's a lot of what-if statements when we start looking at family history. Do you know if any of your cousins were ever diagnosed with any cancers? Okay. I don't think anybody was. Okay. Actually, I might have been wrong, but...

And I confused those two. Okay. This uncle on my mom's side has lung cancer because he's a big smoker. Oh, okay. Yeah, no worries. That's why we talk it through because, I mean, and you have so many family members to keep track of. So, yeah, no worries. Let me update that. So lung cancer after a history of smoking cigarettes. Yes. Okay. Big, big smoker.

Okay, well, that changes things a little bit better then. So, yeah, so I don't see that the lung cancer, breast cancer, basal cell carcinoma, those are really not ones that I think about as being related. So if it was that the uncle had prostate cancer, that paints a bit of a different picture in terms of risk for other family members, because then it makes me think, oh, could there be a genetic change where maybe multiple family members have inherited that change from your grandparents? Yeah.

But it doesn't seem like that's the case. So it all seems to be more of the type of cancer that we don't exactly know what has led to the development as opposed to some that are considered like hereditary cancer. So everything looks pretty standard. Nothing that I'm concerned about here. Did you have any questions about family history at all?

Nope. Okay. All right. Great. When it comes to your health, knowledge is power. I've always believed that the more we understand about our bodies, the better decisions we can make, whether it's about the food we eat, the exercise we choose, or how we plan for the future. But traditional healthcare often feels reactive and not proactive. That's why I'm so excited about 23andMe Plus Total Health, a longevity platform that puts you in the driver's seat of your health journey.

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So Maya, why don't I go through now the different genetic screening and testing options and you can see if any of these resonate with you or if you don't want to go with any of the options. So what my job is to educate you on all of these screenings and testings

and to see what you're interested in, what you're not interested in. So I just want to make sure I educate you on the options so you choose what's best for you and your family and everything. Perfect. So, okay, awesome. So the first one is called non-invasive prenatal screening, and that's a mouthful. So we often just shorten it to NIPS or NIPS.

And this is a simple blood draw. So we do one tube of blood from your arm and we're able to send that off to the lab and the lab is able to analyze that and look at the genetic information in that blood sample.

During pregnancy, the placenta releases DNA and that goes into your bloodstream. So that genetic information can be captured and seen in the lab through that. So we can look at different genetic conditions and those are all random genetic conditions for the most part. So different from the carrier screening that we talked about at the beginning that you, Ellie, and the donor have done before.

So not like something I would pass into the baby. Correct. Yeah. So there's exceptions to everything, but in general, the conditions are random. Exactly. Yep. So not passed down from you or the donor. Yep.

So common conditions that can come up in this is Down syndrome. We can also look at other extra missing chromosome conditions. So other common ones can be we call trisomy 13 or 18, and that's having an extra copy of those chromosomes. We can also look at conditions that are caused by an extra missing sex chromosome.

So most people that are assigned female at birth have two X chromosomes and most assigned male at birth have an X and a Y chromosome. So we're also paying attention to what chromosomes are coming up through the screening for those that decide to do it. And if there's any differences there where that would be consistent with a condition. Because it's screening, there are two different types of results we can get from this. We can get a result that is there's a high chance for a condition or a couple conditions.

or a low chance for all conditions. And I say chance again because it's screening. So we're not getting a yes or no answer about a condition and just those chance or risk levels. So is that all making sense so far? So it's not like 100%. Exactly. Yes. I guess technically no test is 100%, but the tests that are the closest that we can get to 100%

involve a procedure. So this could be a CVS procedure or an amniocentesis procedure. And by doing one of those procedures, we get a sample that then the lab is able to process and test and that is considered diagnostic. And that's when we get a yes or no answer. Baby has that condition or baby does not have that condition. Yep.

So just in terms of just going over that high level information on those different options, do you have any questions about those? Is there one that you're leaning more towards at this point?

So you mentioned that one of the tests was, I think you said NIPS? NIPS, yeah. Okay, so you mentioned that one of the NIPS tests was just a blood drawn, and then you mentioned that the other two that are yes or no,

Are a procedure? What do you mean by procedure? Yeah. So let's talk a little bit more about that. So the procedure is pretty similar between those two. So I can kind of speak to them together just to have it be a little bit more straightforward. So the procedure involves a needle usually through the stomach so that we can either collect a biopsy of the placenta. So a little bit of the placental tissue or a little bit of the amniotic fluid and

And so the baby is releasing skin cells just like we are on this desk. So because of that, in the fluid that they're surrounded by, we can actually capture some of baby's cells in that so that we're able to test and get a diagnostic answer if there is a condition or not present. Same with the biopsy of the placenta, just with the caveat that

Sometimes the placenta is not the same as baby, but that's very, very rare to happen. So if some people are choosing between that placental biopsy called a CVS or the amniotic fluid sample through an amniocentesis, if they're kind of deciding between the two, sometimes they may end up deciding to do an amnio so that it's directly the fetal cells that

But in amnio, you have to wait longer. You have to wait until 16 weeks to do. So that's part of the factors of information that people are saying, okay, well, if I'm deciding to do that diagnostic testing and going through a procedure, which one do I want to do? If they want to do one kind of like the time, the weeks that you are now, like 11-ish weeks, then...

then you wouldn't be eligible for an amnio yet, but you would be for a CVS of that placental biopsy. So the CVS I can do right now, the amnio I would have to wait. Okay. And being a procedure like a needle through my stomach sounds kind of scary. Exactly, yeah. Like what if they pinch the baby? Or like can you speak a little bit more about like is there any risk involved? Like what do they do to know that like...

They're not going to take... Yeah, of course. Put the needle in the baby. Exactly. So a couple different things I want to mention. One is that we're using ultrasound to guide us so that we can see baby the whole time and we are monitoring through ultrasound exactly where baby is.

And through that, we can see where the needle is going so that we can exactly visualize and avoid baby during procedure. So being able to have that visual is very, very important and crucial to reducing the risk of any complications to happen. So this is like the normal ultrasounds that I get? Yeah.

So we use, yes, like the normal ultrasound technology and the probe and we put the jelly on and everything like that. The gel, a lot of patients call it the jelly in our office. We're like the jelly. So yes, we use just the normal ultrasound and we perform that here in our office, in our ultrasound rooms that you've been to before. But also, you know, talking more about risk for it, there is a risk to have a miscarriage from the procedure. Okay.

So depending on if we're talking about a CVS or if we're talking about an amniocentesis of that later one,

The risk that we quote from studies that have been done is about 1 in 200 to 1 in 500. So that chance of having a miscarriage from the procedure. So that's something that I make very clear with patients, especially as you've expressed to me that this is a very wanted pregnancy. Very much. And I really want to make sure we talk about that and you and Ellie have a chance to process that before making any decisions of a procedure. Yes. Okay.

I think at this point, to be honest with you, I would not want to risk this. Sure. The tube of blood, based on the amount of blood that I've already been taking. Oh, yeah. IVF. You guys are like vampires. Yes. Sometimes we call the phlebotomist our vampire. We're like, where did our vampire go? Yes. Yes. So based on that, one tube of blood sounds ideal to me. I would want to do the screening. Seems fine.

pretty accurate on what I wanted, what my concerns were for this pregnancy, age-wise, what they had mentioned before as well. So I think I'm more comfortable with that. And then maybe based on those results, if anything comes off or like...

You said high risk, low risk, right? Sure, yes. Okay, so if there's anything that is high, then maybe I would consider something a little bit more procedure-wise. But right now, I don't even want to hear anymore. Of course, yeah.

I am okay with just going with the blood test for sure. Yeah. And a lot of people end up making that decision because they're like, well, a tube of blood, as you said, you've unfortunately going through IVF, you've done so many blood draws. It's like, what's another one in terms of your experience?

But then also seeing what we learned from that and that results should come back in about a week, week and a half if we're proceeding with the blood draw. So we also in, you know, week, week and a half, we'll sit down and talk because you'll have a viability ultrasound anyway of saying hi to baby, as we said before. So we'll be able to give you, I will be able to give you your results that day. And then we can continue the conversation to see what those results look like.

And if that changes anything in terms of your decision-making of if you want to do a procedure, if that information is even useful, you know, at that point and everything. I think one thing that's important to bring up is that

Some people have this misconception that getting any kind of information from genetic testing is for making a decision in terms of continuing a pregnancy or not. So I just wanted to paint a bit of a picture in terms of what that certainly is an option. And that in, you know, since we're right on the New York, Connecticut line in Connecticut, legally, you can terminate a pregnancy up to 24 weeks and New York is a little bit longer. That's 26 weeks.

And I know a lot of patients have asked just with the overturn of Roe, how that's affected things in our states.

So we are in states that have these laws put in place specifically for New York and Connecticut. So Roe hasn't affected our states in that term. So I always just want to mention that to people. Did you have any questions about that before I kind of go over other information? - No, I'm glad you mentioned it as a choice. So do most people choose to do this kind of genetic testing with that in mind, or is there,

What would this test at the end do for me? Yeah, definitely. So the other part of the information is some people that receive information that either from the blood screening that we talked about with NIPS, that there's a high chance for a certain condition and then they want to proceed with further testing and confirm that. And the reason of just doing this blood test or the other diagnostic testing, yes, no testing is

is to be able to get more information and what people do with that information can really depend. So as I said, some people may decide to end a pregnancy. Other people may say, wow, I have this opportunity now to learn about this condition. In our office, we certainly have a lot of connections with a lot of local communities. So I'll have Down syndrome as an example, especially of just your cousin's child, of that being a little closer to home for you.

So you're probably familiar with really great organizations like Gigi's Playhouse and some other really great ones of being able to have a sense of community for people with Down syndrome and their families and parents that are newer on that journey. Also having time to not only connect with community members, but identify doctors that might be helpful. Sometimes birth plans can change depending on what condition that is.

Sometimes pregnancy management can be different in terms of what ultrasounds we're doing or how much we're putting you on the monitor, which, you know, the nurses can answer more questions about that. But it can really...

give us more information during pregnancy. And some people that's helpful for them and some people it's not. So some people are like, I don't want to do any testing because that's just going to make me anxious. And I'm not someone that is going to start learning all of this until baby's born. And that's why we take this time to sit down and talk about all the options and see what's best for you, because what one patient decides will be different from another patient. So that's just some of why the information could be useful for you.

you and also could not if you're someone that's like, this is just going to make me more anxious.

you said you're already nauseous during pregnancy and everything. We want to make sure that we're doing things that are going to be helpful for you and Ellie. Yeah, I think I'm definitely an information seeker. Okay, sure. Ellie is more of like the chill one, relax. Yeah. Everything's going to be fine. That's not me. That's usually how couples work. There's one person that's more info-driven. One is more like, all right, let's just take it a little slow. Yes, that's not me. I want to know. I need to know. I can tell that from the beginning, but we give all the options. Yeah.

So I do, I mean, I do want to know as much as I can, but I also want to be careful because I don't want there to be a risk if it's not needed, you know? Right. So like, I think that doing the blood tests

and weight is a good idea. Will I still be in the range for the one that I'm currently in range for by the time of the results? That's a good question. So you're 11 weeks now. I'm expecting results next week. So you'll be 12 or 12 in a few days. So that is cutting it closer to do the CVS. So the placenta biopsy one. So there is kind of an awkward time period where

we reach a point where we're too far along for CVS and it's too early for an amnio. So that is a good point just in terms of making decisions. But

Some people also take that time to be able to make the decision if they want to do an amnio at that point and don't feel like they have to make that decision in that moment, in that session. And most people don't. Most people end up kind of thinking about it a little bit and if their partner's not able to be with them or their support person, to be able to talk about it with them. That's exactly what I was thinking because I want to go with the blood because I want to know. I know Ellie at this point could care less. Sure.

She's going to defer to you. She's like, just do whatever you want me. Um, anyways, um,

So the blood would be great for me. And then during that period, when we get... Like, I can mention this. Like, I can have her call you and maybe... Of course, yes. You talk to her of what those would mean. But if something were to come up, or high risk, or just, like, there's some kind of risk, and we want to talk about...

those procedures, then we have the time. And then, I mean, I've heard more about Anyo in general. Like, I had never heard about the other one. So it seems like it's a more common procedure, at least from what I've heard my friends get. And I feel like I might feel more comfortable with that. Sure. So, yes, I feel like maybe this is a good plan, like starting with, like, the blood, seeing the results, and then, like,

Talking about... Touching base at that point. Yeah. Yeah. Yeah. Later on. Right. Definitely. Definitely. Yeah. When you're in the office, you know, next week or I think you're next scheduled like a week and a half, we'll have the results sit down, talk about that and kind of just continue the conversation and see where you're at. So the next big ultrasound is in about two weeks for you. So that's going to be the NT ultrasound, which stands for nuchal translucency. Have you heard of that before? No.

They do something with the neck. That's all I heard. Yes, yes. Good memory. And more TV shows are showing nuchal translucency. Grey's Anatomy. Grey's Anatomy, Jane the Virgin. So there's, yeah, there's a couple out there now. People bring that up. So I got to keep going with my medical shows to stay updated. So yes, exactly. One of the things that we focus on is how much fluid is at the back of the neck. So a little bit of fluid is normal. All babies have at least a little bit of fluid.

We're more suspicious that there could be a genetic condition if there's extra fluid there, though. And if that's the case, certainly, you know, we sit down. We also bring in the doctors so we can have a more well-rounded conversation of, you know, I'm an expert in genetics, but obviously, you know, the MFM in our office is an expert on pregnancy in general. So it's always good to be able to get their insight as well. So on top of looking at how much fluid is behind the neck, we also take a look at the nasal bone.

So we're really looking at that profile shot of how much fluid is the back of the neck and if the nasal bone is present. For most babies, the nasal bone is present. There's a little bit of fluid. If a baby has a missing nasal bone or

extra fluid, then again, we're suspicious for a genetic condition and that could be, I'm thinking sometimes Down syndrome or some of the conditions that are actually included in the blood work that we're going to be doing. There's a lot of overlap between the two which can be helpful of just giving us even more information

especially that I expect that your non-invasive prenatal screening to come back normal. And then having a normal ultrasound around that same time will kind of give us more confidence that, okay, we're able to screen more and we don't think that there is one of those conditions there, that there's a very low chance the more data we get about that. Okay. So any questions about that ultrasound? No.

Nope. And if Ellie is available and wants to come, she certainly is welcome to any appointments you have. You know, easier said than done with people's schedules and work and everything. So, but just know she's always invited and welcome to come to appointments. And yeah, if you guys are talking over dinner or anything, kind of just filling her in on how the session went.

feel free to shoot me an email with questions or if it's during business hours, definitely just ring me. The three of us can talk or just if you're busy and Ellie can chat, as long as I have your consent to talk about the pregnancy with her. Absolutely. Great. Yes. Thank you so much. Of course, Maya. You've been so helpful. I really appreciate it. Yeah, no, definitely. And then so I'll just...

um, kind of just walk you through this consent form. So this looks at, um, just kind of explains what NIPS is in terms of the non-invasive prenatal screening that we talked about. This talks about just getting a blood draw and the very minimal risk to that. Um, you know, as we talked about you having so many blood draws and not even the first in this office, right? So definitely not, definitely not. So, um,

And then this just talks about the turnaround time and that we're going to give you the results in person since you'll be in the office when we expect the results to come back. So I'll give you a chance to just review this.

I'll just sign. Yeah, up to you. You've given me all of the information already. Yes, we have talked about everything written there, but we also have people that are lawyers and stuff that sometimes they read through everything. Okay. What date is today? All right. Today is, let's see, November 29th. Okay. Thank you. Okay. Okay.

Great. There you go. Okay, wonderful. Thank you. So if you want to pop over to Phlebotomy, I know you've been there before, but if you don't remember, you just go down the hall to the left and then I'll be right behind you. I just have to fill out the paperwork. So you can say hi to the phlebotomist and kind of get settled there. Perfect. I know them all by now. Yes, yeah, definitely. Just be like, hey, it's Maya coming back. Thank you so much. Bye. Bye.

We hope you guys enjoyed this session. That is typically how an AMA session will go, advanced maternal age, just in terms of going through that information over the session. Obviously it goes a little differently all the time. Patients ask different questions, but I would say it's a pretty typical session. I agree. Yeah.

We wanted to also thank Simone Masters for helping us look over the plans for this session and give her input on so many comments and feedback that we got from her that we really appreciate. Yeah, so certainly because I've been a prenatal check counselor for four and a half years and Simone has more years on me. So it was important for me to have someone that has more experience in this area to help

and that there wasn't just two, a genetic counselor and an almost genetic counselor, if I can say that looking at it. So that was part of it. And this is, as you guys know, our second installment of our mock genetic counseling session series. So if you have recommendations, please let us know. Obviously we're gonna do a Peds case 'cause that is the next big one to do. But then after that, we're gonna do

area, different specialties, different areas. Um, so we've already gotten a lot of great feedback and ideas and I want to keep them rolling. So you guys can email, you know, [email protected]. You can also DM us on any of the social media platforms at DNA today podcast. Um,

and yeah we're really looking forward to just kind of keeping the series going and we're hoping that we're releasing about uh you know four over the academic year and one over the summer uh so about five a year um if all goes as planned but uh thank you guys for watching especially if you're on the youtube version of this and if you're not then just know that there is that youtube version um so that you can check out the full video version so thank you so much

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