Genetic Counseling for Pregnancy


(gentle music) – Well, thank you both so
much for being with us today to review what it means
to be a genetic counselor and what that role is for women. What is a genetic counselor? – That’s a good question
we get asked a lot. We have medical training
or graduate training in medical genetics and also in counseling so that we can help
individuals and families understand both risks
for genetic conditions, but also a diagnosis. So we help them understand
that information. If they decide to do genetic testing, we help them go through that process and just help them with resources and advocating for themselves. – Who should see a genetic counselor? – We have a lot of different
genetic clinics at UCSD. The individuals that come to see us here usually are 35 and older. They might have a personal
history of a genetic disorder, a family history of a genetic disorder. Sometimes there are
personal or family histories of birth defects. And so those are usually the main reasons why we see people here. – In terms of planning for pregnancy, you see both patients that
are planning to be pregnant as well as pregnant patients? How do those visits usually go? – Yeah, so sometimes we’ll
see someone before a pregnancy and we’ll take a pretty detailed
personal and family history to try to understand. And usually we’re driven
by the patient’s questions. So what kinds of questions do they have about how those histories might affect a future pregnancy. And if there’s testing that’s appropriate, we’ll talk more about that and help them with that process as well. When someone’s already pregnant, we’re usually talking more specifically about tests that are
available for certain risks during the pregnancy. However, most pregnancies
are healthy and normal, and we always wanna focus on that. So we’re really talking about
what options are available so people can make the choices
that are right for them. And then taking a family history as well during those appointments
just to make sure there’s nothing else
that we wanna talk about. – Is there anything
that a patient should do to prepare for these visits
to get the most out of them? – It’s helpful if they
talk to their family about specific health concerns. Oftentimes, women will come in and say, I think that Grandma had
some heart condition, or I think my brother’s
daughter is a little delayed. But they don’t have any specific diagnoses or concrete medical records. And so as much information
as possible it is for them to gather is
helpful for our appointment. It’s also helpful for a couple
to just starting thinking about what kind of
information they might want, what might be helpful for them, what might stress them
out a little bit more. We certainly go into a lot of detail and help them flesh out those decisions during the genetic counseling appointment. But it might be helpful
for them to just think about that before they come in. – Who do you usually
recommend come to the visit? Just the patient herself, or? – It’s a personal decision. Of course it’s influenced by schedules and things like that. So it’s helpful if their
partner can come with them. But it’s definitely not necessary. Of course, if their partner can’t make it, having those conversations beforehand about his family history is very helpful. But otherwise, we welcome anyone that they want to have in the room to have those conversations. – So how do you take a
family history for somebody? – Yeah, so we draw a pedigree
for every family we see. And basically that means
we are making squares for every man, circles for every woman, and drawing out, sketching out the family. So we ask about previous children. We ask about siblings. We ask about parents. And we typically will shade in individuals that have conditions of concern, whether it’s birth
defects, learning problems, genetic disorders. Sometimes it might sound a little unusual why we want to know if
somebody has a full brother or a half brother, or if
their cousin with autism is on Mom’s side or Dad’s side. Certain genetic disorders are passed more through a man or a woman. So that affects the risk
assessment that we provide them for their pregnancy. – For a patient that does
have a family history, how do you approach understanding
that family history? – So we take a pretty
detailed family history whenever we meet with a patient, because that can
influence risk assessment. And then really, it’s driven a lot by the patient’s questions. So sometimes if we have a
family history of a condition that the patient is very familiar with, they don’t necessarily
have a lot of questions. But sometimes they’re
interested in either testing or what other things
they should do to prepare if their baby does have
that particular condition. So we can help both if
they’re choosing to test or if they’re just interested
in kind of what to do to prepare for baby. – In the absence of a
striking family history, we usually review the
option of screening tests versus diagnostic tests. They both have pros and cons. A lot of our patients end up
starting with screening tests. But other women don’t
wanna risk false positives or negatives and prefer to go
directly to diagnostic tests. So we sort of see what
makes sense for them. – In talking about screening
versus diagnostic testing, what are the key ways that
those two types of tests are typically done? – Screening tests are
usually done by a blood draw. So blood draw from the woman’s arm. It’s noninvasive, pretty simple, just sent to a basic laboratory. Diagnostic tests are invasive tests. The CVS test requires
removing a small piece of the placenta through the
cervix or through the abdomen. The amniocentesis involves
putting in a needle into that abdomen, into
that amniotic sack, and removing some liquid
that’s around the baby. So those are invasive procedures. – What are the advantages
of a screening test? – So screening tests
are often noninvasive, so there isn’t a risk to the pregnancy. And they are often less
expensive for patients who might have an out-of-pocket expense that’s high with their insurance plan. The downsides are that there
are both false positives and false negatives with screening tests. So we can be falsely reassuring, or there can be a positive
result that prompts us to offer additional testing. It can cause a lot of worry and anxiety. And oftentimes the baby
is healthy in the end. But the pros of diagnostic testing are that it’s highly accurate, as accurate as we can get in a pregnancy. The downsides are that
they are typically invasive and carry a small risk of pregnancy loss. – For a pregnant woman who comes to you wanting to know what things
she should be testing, but, you know, a negative family history, what do you recommend that
she should be testing for? – Generally our patients
are considering testing for certain conditions that
can happen in any pregnancy. These conditions are caused
by having extra copies of chromosomes or missing
copies of chromosomes. And they’re not usually
related to your family history. They can happen sporadically
in any pregnancy. However, our risk does get
a little higher for some of these conditions as we get older. And so that’s why one of the reasons that we draw that line in the sand at 35. And for women who are over that line, we just wanna make sure
that they’ve gotten time to discuss all of their options and understand them very
well before they choose, whether they’re doing no testing or whether they’re doing
one of the specific tests. So we have the California
State Screening Program, which involves looking at some hormones and possibly an ultrasound, with a very good test, however, a slightly higher
risk of a false positive, as we call it. So getting a positive result on that test is not a diagnosis. It just indicates an increased risk and wanting to discuss further options. And then we have the cell-free DNA test, which is generally offered for women who are considered at increased risk, so either being over 35 or having other positive screen results. And that really is
looking for small pieces of chromosomes that are in your blood. But some of them help to represent baby and help us see is there increased amounts or is there cause for thinking there might be an increased risk. – And what is the increased risk if there are abnormal chromosomes? What does that mean for the pregnancy? – So the most common
chromosome is Down syndrome, caused by an extra 21-chromosome. There are other both more
serious and less serious chromosome problems that we can
see by these screening tests and diagnostic tests. Some of them are Trisomy 18,
Trisomy 13, Turner Syndrome. So when we have a suspicion
that there might be one of these chromosome
problems in a pregnancy, and if we are able to confirm
it with diagnostic testing, then we have the opportunity
to provide this information for the family. Some families are very eager
to get this information because they would like
to prepare to have a baby with special needs, to
have a pediatrician set up, to talk to family and just
be ready to meet their baby at delivery with knowing
the diagnosis already. Other families do choose
to end the pregnancy when they confirm a genetic diagnosis. And some couples don’t really
know which of those two camps they fall in, and they just
know that they’re anxious and want more information
as conclusively as possible. – Once a genetic carrier
status has been identified, how do you typically counsel the family as to how to share that information or if they should share that information with the rest of their family? – Yeah, whenever we are
talking to a patient about their results or
about our risk assessment, we definitely talk about who
that might influence otherwise besides them in their family. And we’re generally
encouraging of people to share information so that they can
do with that what they choose. So it may be that their
siblings aren’t interested in getting genetic testing. But at least if you
share that information, you’ve given them the opportunity to make their decision on their own. Whereas if you keep it to yourself, you don’t know if they would
have made a different decision. So we generally encourage
families to share information about their health,
about any genetic testing that they’ve had. And we can also facilitate
that if it’s helpful to the patient. So we can either have
discussions with family members or provide them with information
that they can then pass on. – Now I know the American
Congress of Obstetrics and Gynecologists has now recommended that we routinely test all
women for both cystic fibrosis as well as spinal muscular
atrophy carrier status. When that comes out positive, we refer to a genetic counselor. How do you handle those visits? So those visits usually
involve a family history to see if there’s any other
family history of people who are either affected
with that condition, which usually there is not, or other people who are known carriers, discussing risks to family
members to be a carrier. So often people’s siblings
are also maybe not aware of that possibility of being a carrier. But the focus is usually
on a current pregnancy if the patient is pregnant. And because of how those
conditions are inherited, usually the next step is actually having their partner tested. So for those sessions, it is very helpful if the partner is able to come along so that we can have that
conversation about that next step. Because really, the risk to the pregnancy is highly dependent on
whether that person’s partner is also a carrier. While we’re all probably
carriers of some conditions, we don’t always tend to be
carriers of the same conditions. – What happens if the father of the baby does turn out to also be a carrier? – Then there is an increased
risk for the pregnancy to be affected with that condition. But there is diagnostic
testing that we can talk about if someone is interested
in finding out for sure. Or we can just talk about what
that condition looks like, and then the family can help
prepare for that chance, so they can maybe meet with specialists or just learn more and get connected. – Is any of this testing
mandatory in pregnancy? – Absolutely not. So it’s all optional. And sometimes couples
will come and talk to us and we’ll meet for 45 minutes, go through all the testing options, and they’ll decide they don’t
wanna do any testing at all. And that’s perfectly fine. Our job is just to let them
know the testing options, sort of the pros and cons, and see what makes sense
for them and their family. – So once testing is complete, how does the patient
usually get the information about their testing? – It depends on the test, but we typically start by
calling you over the phone to discuss your results. If they’re more complicated,
we welcome you to come back in and talk in more detail. However, it’s really a conversation with your genetic counselor about why you were doing the test and kind of your clinical
picture up until that point, and then incorporating this
test result into that picture to give you the context
of how this affects where you were before
and where you are now. – So is genetic counseling
typically covered by insurance? – Genetic counseling is
typically covered by insurance. Genetic testing is a
little bit more variable. We usually encourage that patients check with their specific
insurance provider to inquire about their genetic testing benefits. I will say that if a
woman is deemed high-risk in her pregnancy, it’s
more likely to be covered. But there might be special authorizations that need to be obtained. There might be co-insurances, deductibles. So it’s difficult to know specifically without checking with your insurance. – So there seems to be
increasing popularity these days with people going online
and ordering genetic tests through the mail. You know, what do you see
as any potential advantages or any downsides of this type of testing? – Yeah, there’s definitely pros and cons to a lot of those tests. – We definitely love that
people are getting interested in their genetics and proactive. Carrier screening is really ideally done before a pregnancy so that
you have that information and can do with it what you choose. So the fact that people are
doing that test earlier is good. But it has some caveats to it. And so, you know, it might
be less comprehensive than the testing we would
recommend clinically. And so it’s just helpful if
you can talk to your provider about the testing that
you’ve already had done. And if you have a lot of questions, we can really help you
work through what testing is most appropriate for you. – Thank you both so much
for your time and expertise in talking with us today. Genetic counseling is a
critical part of providing the excellent care here at UC San Diego for healthy moms and healthy babies. So thank you both. – It was our pleasure.
– It’s our pleasure. (gentle music)

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