Prenatal Testing and Genetic Counseling
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Susanna Park : Pregnancy can be a wonderful and exciting time of anticipation. Most pregnancies result in healthy babies, however, 3 to 5% of all babies are born with birth defects, many of which can be detected through prenatal testing. I'm Dr. Susanna Park, an OB/GYN with the San Diego Fertility Center, affiliated with Scripps Health, and today we'll explain the various prenatal tests available, as well as your options for genetic counseling. This is Preggie Pals, episode 38.
Sunny Gault : Welcome to Preggie Pals, broadcasting from the Birth Education Center of San Diego. I'm your host, Sunny Gault. Are you a member of the Preggie Pals Club? This is our exclusive membership club for all of our loyal listeners. You'll get access to all of our archived episodes, bonus content after every new show and special giveaways and discounts. Visit our website PreggiePals.com for more information. And with your membership, you'll also get a free one year subscription to Pregnancy Magazine. We are very excited about our new partnership with Pregnancy Magazine, if you want some more information, visit our website PreggiePals.com and be sure to check out the latest issue of Pregnancy Magazine to see our full page ad. Alright, let's meet our panelists here in the studio, and Jackie, let's start with you.
Jackie VanHatten : Hi everyone! My name is Jackie VanHatten, I am 32. I am a small business owner, I own VanHatten photography and Boudoir Photographic. I am due March 30th, and it's a boy. This is my first child, and I do hope to do a natural birth and just keep it without any medication.
Sunny Gault : I'm going to have to talk to you after the show about your Boudoir Photography, maybe for a present for my husband.
Jackie VanHatten : Yeah, absolutely!
Rachel Adams Gonzales : My name is Rachel Adams Gonzales, I am 29 and I am a product consultant for doTERRA Essential Oils, I am due April 10th, with a girl. I have a son who is almost three years-old, so they will be exactly three years apart, and we are planning a home birth. We had an unmedicated birth center water birth with my son so we're trying home birth this time.
Sunny Gault : You already have all your materials and everything, or are you still gathering all that stuff and equipment?
Rachel Adams Gonzales : We are going to be getting all the equipment in the next few weeks.
Sunny Gault : I can't believe you're already 27 weeks? I feel like you just came to me and said that you are pregnant, amazing. Isn't it crazy how your second pregnancy is just like, “Boom!”
Rachel Adams Gonzales : Yeah, I can't believe that I am just about into the third trimester.
Sunny Gault : Awesome. Well ladies, thank you for joining us today.
Rachel Adams Gonzales : Thanks for having us.
[Theme Music] [Featured Segment: Baby Nursery on a Budget]
Sunny Gault : Before we begin today's show, here are some tips on how to keep your baby nursery on a budget from Cynthia Kaiden.
Cynthia Kaiden : Hello Preggie Pals! I am Cynthia Kaiden, founder of Trick my Crib Nursery and Kids Room Design, where I help your nursery dreams come true. I'm excited to talk to you today about saving money in the baby's room by designing a room that will grow with your child. When decorating a nursery, there is much to choose from, and often our wants exceed our budget. Wallpaper, custom murals and paintings are all options to consider when designing, but paint is the most versatile and least expensive. So let's talk about colors. The days of choosing between light pink or soft blue are long gone, this means that you can easily and inexpensively design a baby space that will pop. Decide what color or combination of colors you love for the space and go for it. Even if they aren't traditional nursery colors. Make it stunning, make it unique, make it yours, and don't feel constrained in your choise because it's for a baby. Live in the moment and design for your baby, but think ahead too. Do you have a budget that includes redoing this room when your baby is in school and no longer wants a babyish room? If you want to save money, I recommend painting with solid colors, or combinations of colors that will work for all ages, and even work when the room may no longer be for a child. You may wish to consider having neutral walls and then making your space come alive with colorful eye catching furniture or decorative items. Paint is an amazing decorating tool. It is inexpensive, you can do it yourself and the possibilities are endless. I am also a big fan of wall stickers. If you are unable to paint or make other permanent changes to the walls, go online and look at the thousands of wall stickers. They change and personalize a space and come right off when need be. Also, they are really easy on the wallet. I can help you choose colors and make a functional rooms as part of my flat fee design service. Please like Trick my Crib on Facebook and visit my page often for decorating ideas. Thanks for listening to today's money saving tips and be sure to listen to Preggie Pals for more great pregnancy tips in the future.
Sunny Gault : Today we are learning all about prenatal tests available to you during pregnancy, to determine the health of your baby. And Dr. Susanna Park is our expert, she is an OB/GYN with the San Diego Fertility Center, and she is also affiliated with Scripps Hospitals. Dr. Park, welcome to Preggie Pals!
Susanna Park : Thank you for having me!
Sunny Gault : What is the purpose of genetic testing, what exactly are we trying to accomplish?
Susanna Park : The prenatal testing refers to testing your child before your child is born, and the objective is to try to optimize the probability that you will have a healthy child. And secondarily, to give you more information about your child while pregnant, so you can make an educated decision.
Sunny Gault : What is some of that additional information?
Susanna Park : A lot of the testing ranges from things as simple as blood tests, to some other tests which are a little bit more infusive, such as amniocentesis, to things such ultrasounds, which are very non-invasive. A lot of these tests are done in different parts of the pregnancy.
Sunny Gault : I know you said that before our babies are born we are trying to find out this information, but I also learned that you can actually get a lot of these tests before you become pregnant. Tell us briefly about that, I had no idea you could that.
Susanna Park : Absolutely, it's done through a technique called pre-implantation, so before implantation, genetic diagnosis. Before the embryo implants in your body you can actually do genetic testing of the embryo. But in order to test the embryo, you then need to create the embryo in a lab, which would then necessitate the procedure called in vitro fertilization, IVF. And a test like this is really most suitable for somebody with a known genetic disorder in the family, or you know that either you or your spouse carries a genetic disorder, and you want to minimize passing that disorder down to your children.
Sunny Gault : And I know that's a more costing option, but how much?
Susanna Park : An IVF cycle costs approximately $10,000, but that's without the cost of medication, if you add the cost of the medication, you're talking approximately $15,000.
Sunny Gault : So going back to the regular prenatal test that most of us get when we find out we're pregnant, are all of these tests voluntary?
Susanna Park : Absolutely. The American College of OB/GYN, which is the governing body for OB/GYNs in the states, mandates that you offer all patients prenatal testing, you must educate them. But it is up to the patient, she can refuse any of these tests.
Sunny Gault : Let's toss it here to the panelists here in the studio. How do you guys feel about prenatal testing, did you guys opt for it in your pregnancies so far? Jackie, let's start with you.
Jackie VanHatten : Yes, we did it in the second trimester, there is an option to do one in the first trimester, but we didn't really feel that it was that important at the time, so we opted for a second. And I think your doctor talks to you about it four weeks after the gestation.
Sunny Gault : OK, and what about you, Rachel?
Rachel Adams Gonzales : We did it with my son, this time we did not. Really, what it came down to is our scenographer, where we have our ultrasound, the technology he has is so incredibly advanced that I didn't see a need with my son, I felt like we were duplicating with the test we had done and everything that he could see on that ultrasound was just phenomenal. So since we were having the ultrasound this time, I was like, “I just don't see it necessary”. We were not high risk for anything that we know of, obviously, that would be a totally different situation if we were high risk for something. But since we did not come up positive for any kind of markers or anything in the past, we just decided that we could see everything with ultrasounds that we were going to do anyway.
Sunny Gault : Dr. Park, what advice do you have for parents out there that are trying to make this decision, let's just say it is your first pregnancy, you don't know about any markers or anything like that. What would you say to them to help make this decision?
Susanna Park : I think that what you said, Rachel, was exactly right, you are not high risk, Rachel is 29 years-old. So you take into consideration your age, your medical history, your family history. If you are at low risk, you are absolutely right, there is no need to undergo invasive testing. And ultrasound is so non-invasive as you experienced, and it's a great way to see the fetus, to see the anatomy, and you can be reassured with a normal ultrasound, especially if it is done in the second trimester. So I think what patients need to take into consideration are very risk factors for having a child with an anomaly. If you are young, you have no significant medical problems, you don't engage in any adverse lifestyles, you are not a smoker, you don't take illegal drugs, you have a family history that is really not contributory, then it's OK to be very conservative. But remember that as women get older – the average age in the United States of conceiving your first child is getting older and older, because women delay becoming pregnant mostly for career reasons, it could be for social reasons – but as women get older, the risk that they will have a child with an abnormality starts to increase as well. That's probably the largest factor in determining your risk for having a birth defect for somebody with a normal medical history.
Sunny Gault : So let's talk about some of the screening tests that we can have during the first trimester.
Susanna Park : Most of the first trimester tests are blood work, and a lot of these blood work measure various hormones. In addition to that, they do something called nuchal translucency, where they do an ultrasound and they look at the back of the baby's neck, and depending on the thickness of it, they can then determine, “Hm, I wonder if this baby is at risk for a certain condition, and perhaps we should do more aggressive, more invasive testing”.
Sunny Gault : And that's an ultrasound?
Susanna Park : The nuchal translucency, absolutely! The most conservative tests that are non-invasive is the first ultrasound, in the first trimester, and blood tests. And if any that comes back suspicious, you can do a more confirmatory test in the first trimester, but it is invasive, called chorionic villus sampling, CVS, where they take a biopsy of the placenta, which is supposed to be a reflection of the chromosomes of the fetus.
Sunny Gault : Explain to us what a biopsy is.
Susanna Park : A biopsy is when you go in with an instrument and you take a little piece of the tissue.
Sunny Gault : And that's why it's considered invasive.
Susanna Park : Correct. And of course, the biggest concern for a lot of patients is – what's the risk this is going to damage the baby? And with CVS, the proximate risk is about 1%.
Sunny Gault : So you were talking about the blood work, what is the blood work testing for in the first trimester?
Susanna Park : Different hormones. In the first trimester, PAPP/A is the most common blood test that you check in the first trimester, and a lot of the other blood tests can be done later, in the second trimester. Such as estriol, HCG, alpha-fetoprotein, which tests for various conditions.
Sunny Gault : Let's talk about some of those conditions we are actually looking for. We know we are taking these tests, but we need to know what are we actually looking for in the baby.
Susanna Park : The most common birth defect that you see among live births is Down syndrome. And what Down syndrome is, is three copies of chromosomes 21. Normally, a person will have 46 chromosomes, 23 chromosomes, all in double copies. But sometimes you can have extra copies, or insufficient copies of a particular chromosome. Down syndrome is three copies of chromosome 21, and that's the most common chromosome abnormality we see in live births.
Sunny Gault : And that's part of the blood work that we're doing?
Susanna Park : Absolutely, that's part of the blood work. And the second most common that tests for is three copies, which is called trisomy, of chromosome 18, that's the second most common chromosome abnormality we see in women who have a life birth.
Sunny Gault : And what does that look like in children? What are some of the issues that children have?
Susanna Park : A lot of them have mental retardation. In Down syndrome, you can have moderate mental retardation, but with trisomy 18, or trisomy 13, it's a pretty severe mental retardation and a very short lifespan. But in women who have miscarriages, most of the chromosome abnormalities don't result in live birth, so most of them end up in miscarriage early in the first trimester. So you don't actually see those in a live birth. The most common actually among miscarriages is three copies of chromosome 16.
Sunny Gault : What about more common things, like a physical exam, is all of that routine as well in the first trimester?
Susanna Park : Yes. The most important thing you can do when you go to your OB/GYN, once you know you are pregnant, is to really be accurate when you fill out your medical sheet. Your history, your medical history, what surgeries you've had, how old were you when you first got your period, what kind of problems did you have that were gynecologic? Painful periods, cists on your ovaries, etc. Your allergies, what medications you're taking, including over the counter, herbs, those are medications that your doctor should know about. And of course, your family history. And then your doctor will do a physical exam, and then just basic screening for infections, your blood type, based on your ethnicity, he or she may do different testing, for example, if you're of jewish descent, you will do a blood test. Again, you can refuse to do it, but it's a blood test. In addition, your doctor will check your weight, your blood pressure, confirm that the baby is doing fine.
Sunny Gault : What about urine tests?
Susanna Park : Absolutely, you do urine tests to make sure that there is no protein in the urine, no infection, no sugar – sugar for diabetes.
Sunny Gault : What about for UTIs, is that common in the first trimester?
Susanna Park : Absolutely, and the thing about pregnancy UTIs is, when you're not pregnant, you tend to be symptomatic, but when you are pregnant, it's not uncommon to not have symptoms, even though you have a bladder infection. Which is why with every prenatal visit, they check your urine, and it's called a dipstick, they dip it to see if you have any evidence of infection at all.
Jackie VanHatten : Just a quick question, I know I've been doing the urine test every time you go in, the proteins, what does that mean when you see proteins in the urine?
Susanna Park : Having protein in the urine is a sign of what's called preeclampsia, which is high blood pressure pregnancy. And usually, it's rare to see that in the first trimester, but usually in the second to the third trimester, you can be at risk for preeclampsia, and that's what you're trying to rule out.
Sunny Gault : It's nice to know that, I never asked my doctor before.
Jackie VanHatten : I always tested for trace amounts from the very beginning, first trimester with my son and this time too.
Sunny Gault : For protein?
Jackie VanHatten : Yes, very minuscule amounts, but they said that for some people, as long as you are testing for it from the beginning, there is nothing to worry about unless it increases.
Susanna Park : And another thing that I do want to mention that often gets overlooked, is domestic violence. That's an issue that is not often spoken about, and if you will go to the restroom, you will see a sign for domestic violence. And that's something to keep yourself and obviously your fetus safe, it's something that you should address with your OB/GYN.
Sunny Gault : That's actually a question that my medical provider asked me every time I go in, one of the standard questions.
Susanna Park : Absolutely.
Sunny Gault : Let's talk about the glucose challenge test, I know not everyone is going to have this, especially in the first trimester, but I am one of the lucky few that did it. In my last pregnancy, I have two little boys at home, and in my first pregnancy I didn't have a problem with glucose at all, my second pregnancy – but I had a big baby, he was over 9 pounds, and so going into it...
Susanna Park : … Did you deliver vaginally?
Sunny Gault : I did. It was medicated so don't feel too bad for me. So going in to my second pregnancy, my doctor said, “OK, you have a big baby, but that's last one we want to test you, first trimester, the glucose challenge”. So tell us a little bit about that, why women might need that.
Susanna Park : If you have had diabetes in past pregnancies, or you have a family history of diabetes, in first degree relatives, meaning your parents, your siblings, or your child, you should get tested for diabetes early in the first trimester. If however you don't have any such risk factors, then you can wait until you are about 28 weeks pregnant, and all it entails is that you drink something sweet and then draw your blood an hour later, and then, depending on the level, if the level is not normal, then you have to go back, and do another test, a three hour glucose tolerance test, where you drink even more sugar, and then they draw your blood every hour for three hours.
Sunny Gault : So that's basically what you would do at the 24 weeks mark, when you typically have it, it's just that if you have any of the risk factors, you do it in the first trimester.
Susanna Park : And the reason for that is if you have diabetes that is not well controlled during pregnancy, you have an increased risk of having a child with a birth defect. I mean, yes, you can have a large child etc., but most serious complications – increased risk of birth defects.
Sunny Gault : In my situation, I had the test, and I think it was at 12 weeks or something like that, and I was OK. But then I had some issues later on, which we'll talk about when we're talking about the second trimester of testing. Is there anything else in first trimester that we should talk about?
Susanna Park : No, I think we covered it.
Sunny Gault : OK, so let's talk about second trimester screenings. What are we looking for?
Susanna Park : For the second trimester, the most important thing is often times, especially if you try to avoid invasive testing, you try to do a combination of first trimester and second trimester blood work, to get an overall assessment of the risk that you will have a child with a chromosomal problem.
Sunny Gault : So some of this may be follow-up work, depending on the first screening?
Susanna Park : Exactly. And often what you do is you get the results from the first trimester screening, you combine that with the results from the second trimester screening, and you compute a risk to the patient, of her probability of having a child with a birth defect. And usually, the risk is very low, it's never zero, 'cause none of these tests are 100% guaranteed. But if the risk is very low, many patients rightfully will opt to just forgo any further testing. If the risk is obviously abnormal, it will be highly recommended that you do undergo for the invasive testing, and in the second trimester that's usually something called an amniocentesis. And that's usually done when you are about 16 to 18 weeks pregnant. And basically what it is, is the fluid that surrounds the baby, you put a needle into that fluid and you extract the cells inside that fluid. And then you can examine the cells and look to see if your baby is chromosomally OK or not. Along with that, you also perform an ultrasound of the baby, because amniocentesis is done under ultrasound guidance. So when you perform that ultrasound, you can clearly see by that time, 16-1 weeks, the anatomy of the baby. So that's another tool you can use to try to optimize having a child that's chromosomally normal.
Sunny Gault : What birth defects is the amniocentesis testing for?
Susanna Park : Same thing, the Down syndrome, trisomy 18. But what's different is that you do an amniocentesis and you can actually look at all the chromosomes of the baby.
Sunny Gault : So if there is another disorder...
Susanna Park : Exactly. Chromosome one, chromosome 7, the less common disorders. In addition to the X and Y chromosome. So you can learn the sex of your child, which you may or may not want to know, and they can give you the result of the amniocentesis...
Sunny Gault : … Without knowing the sex of the baby.
Susanna Park : That's right.
Sunny Gault : Panelists here in the studio, how do you feel about invasive testing? I know it's kind of hard to put yourself in that position, but if one of your tests came back with a question mark and more invasive testing was an option, how do you guys feel about that? Jackie?
Jackie VanHatten : It would just depend on the percentages, whether or not I'm at a high risk. I guess it would just be really difficult, and I've heard about amniocentesis, it does actually have a percentage rate with miscarriages.
Susanna Park : That's correct. And it's less than 1%. It's about 1 in a thousand.
Sunny Gault : But still, as a mom, you may not even want to risk that, that's still a pretty big risk.
Jackie VanHatten : Yeah, I think at that point, it just really depends on what we found the first time around and why it needs to be more evasive. So unless I really know a specific situation, I could say yes or no, either way.
Sunny Gault : And you said you did the second trimester screening, that's what you guys opted for in this pregnancy, right?
Rachel Adams Gonzales : Yeah, and the reason for that is that I have a disease, I've had a bowel resection, so we just wanted to do it just to make sure everything is OK.
Sunny Gault : That makes sense.
Susanna Park : I will say that I had an amniocentesis a year ago in February, and I opted to do it because of my age. So having performed amniocentesis in patients and now all of the sudden being on the table, I got to say that I was so anxious and so nervous. It really speaks to really going through personally what you do to your patients, it really gave me a new perspective about invasive testing that we do. And thankfully, it literally took her two minutes to do the procedure, but even waiting for the test results, I was so anxious.
Sunny Gault : How long does that take?
Susanna Park : One week. Pretty fast.
Sunny Gault : And Rachel, how do you feel about invasive testing?
Rachel Adams Gonzales : I just think it's a really personal decision, I don't think that it's not something you can say across the board and I think the main thing is for whoever is making that decision to know why they are making that decision and what they are hoping to get out of it, because if you are doing a test just for knowledge sake, or if there is something that you are going to do with the results, or just have an idea of why you want to do it.
Sunny Gault : So I know in the first trimester we talked about the glucose test. But typically, it's the second trimester that you do have this test. And, like we said, it's the same process, you go for your one hour testing, where you drink that lovely sugary drink and have to wait. I was telling you guys that I had the markers so I had to do it the first trimester and I came out OK, second trimester I went back for the one hour, and I had some elevated levels. So I had to go back for the three hour – someone told me that they are actually coming up with jelly beans that you can take instead of that sugar drink, have you heard of this too Dr. Park?
Susanna Park : I have, yes.
Sunny Gault : I wish my provider would opt into these jelly beans, I think that would be a better option. So I went back for the three hour, and I think it was inconclusive, like I couldn't be classified as having gestational diabetes, I was borderline. So what does that mean? I had to come back in the third trimester, and redo the three hour test. I've had my fill of these tests, let me tell you! Ultimately, I ended up having gestational diabetes, but they didn't classify with that until I was 34 weeks, so adjusting my diet and all of that I only had to do for a month and a half, so it wasn't too big of a deal. OK, anything else in the second trimester that we should talk about?
Susanna Park : There are some things that are unique to the second trimester, one is your blood type. If you are what we call RH negative, so A negative, B negative, AB negative, O negative – when you are 28 weeks you need an injection of something called Rogam, which is a form of antibody. And what it will do is it will bind to any antibodies you have in your blood, should your fetus be blood type positive. Because at that time you don't know the blood type of your fetus. So that's something that's unique in the second trimester. The other thing is that in the second trimester you also start doing kick counts, so you have to start counting when your baby kicks, about ten times in an hour, and that's very important, because when you know that your baby is kicking regularly it's reassuring that your baby is healthy and doing well.
Sunny Gault : That's one of the things I love about when your baby starts to move, it's a constant reinsurance that things are going well and your baby is progressing.
Susanna Park : I want to mention one other thing that they are coming out and it's so clinically used with a blood test, to screen for Down syndrome and trisomy 18. It's unique in that it's a blood test like other blood tests, but it's actually checking the DNA of the baby.
Sunny Gault : Really?
Susanna Park : Yes. So it's coming out, it's in its infancy stages in clinical use, but soon it's going to be the way of the future. Right now it's really more for Down syndrome, which is trisomy 21 and trisomy 18, but it's going to be the way of the future.
Sunny Gault : So what will that replace? Or is it just an additional test that you take? It wouldn't replace the amniocentesis that we talked about, would it?
Susanna Park : Right now, no, but hopefully, if it becomes sensitive enough in the future, that may be the go to. Because right now all the blood tests we're doing are hormones levels on the mother, but this is actually testing the DNA and the RNA of the actual baby.
Sunny Gault : Nice. How long do you think it could be before something like that is available?
Susanna Park : Some centers are using it now, but with caution, but I think within the next few years, absolutely.
Sunny Gault : Nice. Alright, when we come back, we're going to talk about testing during the third trimester, as well as meeting with the genetic counselor, should your results be abnormal. We'll be right back.
Sunny Gault : Welcome back everybody, today we are talking about prenatal testing and genetic counseling, with Dr. Susanna Park. She is an OB/GYN, she's affiliated with Scripps, she is our special guest expert today. So, let's talk about tests that we can opt for in the third trimester, Dr. Park.
Susanna Park : In the third trimester, when you are about 36 weeks, you usually do a culture, a vaginal culture and a rectal culture, you just get a swap and put it in vagina and over your rectum for something group B streptococus, GBS. And the reason for this is, if your culture comes back positive, then when you are in labor you need antibiotics so that your child doesn't get infected with GBS.
Sunny Gault : And what would happen if they did get infected, what are some of the symptoms?
Susanna Park : They can get very sick and they can actually die.
Sunny Gault : Would that happen in a newborn infancy stage?
Susanna Park : Yes. And this is something that you can so easily prevent with antibiotics. If however you have a history of having had a child that was sick with GBS in the past, they won't even do the test, they just will treat you automatically when you are in labor.
Sunny Gault : What else are we looking for in the third trimester?
Susanna Park : Again, if you had an abnormal glucose test, you have the test again. And then patients with certain risk factors who may need some extra testing, so perhaps you may need a few extra ultrasounds. For example, let's say your baby is measuring a little bit bigger than they thought, perhaps not growing well, so its measure is a little bit small than it should be, they may do an ultrasound to make sure the baby is OK. You may also do an ultrasound to see where your placenta is, they may do an ultrasound to see how your baby is positioned. Sometimes they do something called a non-stress test, which is, for example, let's say you are an older patient or you had a certain medical condition, they want to keep a closer look on you, they will ask you to go to a center where they will put you in a monitor. And one monitor looks for contractions of the uterus, and the other monitor looks at the baby's heart rate. They want to see the baby's hear rate going up and down, to a certain degree, about twice in a 20 minute time span. That's called a non-stress test.
Sunny Gault : I had non-stress test for the diabetes. It was a commitment, because you are already going towards the end of your pregnancy, you want to see your provider quite a bit anyway. And I went, I think it was Tuesdays and Thursdays, they had to space it apart like that, and it was nice to hear the baby's heartbeat, and it was nice to see him on the monitor again. But it's also a challenge when you have little kids. Because my other one came with me all the time, I'm quite familiar with the non-stress test.
Jackie VanHatten : I have a quick question, you said you take measurements first and then you decide whether or not the baby is measuring bigger or smaller, and then you go in for an ultrasound.
Susanna Park : Oh no, those are all separate things. When you go to see your doctor, your doctor does first measure the height of your uterus with a tape, and sometimes they will put their hands and get an idea of what their weight is, but let's say the weight is consistently coming back small or the tape measure consistently come in back smaller than it should be, then they will probably send you for an ultrasound.
Sunny Gault : Let's talk a little bit about genetic counseling. I don't know if a lot of people even know what that means, and maybe you wouldn't even know what the genetic counselor was if none of these tests came back abnormal, so tell us first what a genetic counselor is and what that person does.
Susanna Park : A genetic counselor is somebody who has undergone special education and training to understand the various birth defects that can occur, and how to counsel a patient as to what these are, what are the risks, what the tests are, and the treatments one can offer. They are very very useful resourceful people.
Sunny Gault : When would you meet with a genetic counselor? At what point?
Susanna Park : The most common time patients will meet with them is two-fold. Number 1, before you undergo some kind of testing, to sit down with them and they can explain to you why you are doing the testing.
Sunny Gault : Secondary testing, or is this initial test?
Susanna Park : Usually it's secondary, but it can even be before initial, because there are some patients who don't want to be tested, so the role of the genetic counselor is to educate you, and say, “This is why you need the test”, be it primary or secondary, “This is how the test is done, and this is how you get the results, and this is what we are going to do with the results”. But usually, nowadays people meet with the genetic counselor after they have done the initial screening test, and it's not normal, and now they need more invasive testing, that's usually when they meet with the genetic counselor.
Sunny Gault : To determine if they want to pursue that option or not.
Susanna Park : Exactly. Currently, you can also offer genetic counseling – there are some patients who just want invasive testing from the beginning, they want the definitive test. And usually those types of patients will see the genetic counselor just so they understand the risks of evasive tests.
Sunny Gault : Is it mandatory? I mean, maybe it depends on the provider.
Susanna Park : Exactly, many providers do suggest that you see the genetic counselor first.
Sunny Gault : OK. What happens in a session? A genetic counseling session?
Susanna Park : The most important thing again is history. You really need to know your history and in this case, family history. They do what's called a family tree. And they go far, a number of generations, and so the more educated, the more knowledgeable you are about your own family, the better the genetic counselor can help you. And it's amazing, I would send patients to genetic counselors, although I do family history, but when they come back to me, the genetic counselor has unearth so many more conditions that I didn't even think of, it's really amazing, they're so resourceful. And so once they do your family tree, they will then talk to you about the reasons why you came to see them. But in addition, new information that they got from you, they will counsel you about that as well and offer you any additional tests, if necessary, based on the information they gather.
Sunny Gault : So what happens after someone goes to see a genetic counselor? Let's say that maybe their mind isn't quite made up yet on what to do. Are there other resources that for example the genetic counselor may recommend in order to make that decision? Or is it pretty much up to the couple at that point?
Susanna Park : It's pretty much up to the couple, but the genetic counselor will send you home with information. But the biggest thing is – what are you going to do with this information?
Sunny Gault : That's exactly what Rachel said. What you want to get out of it?
Susanna Park : Because if you were refered to the genetic counselor because you had an abnormal screening test, great. But if you are requesting invasive testing, what are you going to do with this information? Because sometimes you put yourself in a psychological dilemma, now you are anxious and you are stressed about the test results. And so that's also what the genetic counselor does – it educates you that this test will be anxiety provoking, not only the test itself, but just waiting for the test results. And so they offer a lot of counseling, a lot of support, and they will give you your options as to if it is abnormal, these are your options.
Sunny Gault : It makes sense. Well, Dr. Park, thank you so much for explaining all of this, for being with us today and for all the information, it's been really good.
Susanna Park : Thank you!
Sunny Gault : This conversation continues for members of our Preggie Pals Club, after the show we'll talk about some of the questions you should ask your genetic counselor.
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Sunny Gault : We have a comment from one of our listeners. This comes from Kate from Louisiana. She writes, “Hi Preggie Pals! I just listened to your episode focused on Lamaze. Prior to listening, I had no idea what Lamaze consisted of, more than just breathing during labor and delivery” - and honestly, Kate, I had no idea either - “I know this episode is part of your series focused on child birth preparation methods. Any chance you can do an episode on hypnobirthing?” So Kate, actually we've already done an episode on hypnobirthing, but you probably haven't heard it yet, if you're listening in sequential order. This was episode 30, and here is a great way to find out what episodes we've done. If you go to our website, which is PreggiePals.com, and you go to the episodes section, there's a new link we've created, called episode guide. So if you click on that, you're going to see all the episodes we've done, and what's really great about this is that is shows you how you can listen to each episode. Some episodes are just available on iTunes, some are available through our app, and all of our archived episodes are available through our Preggie Pals Club.
Sunny Gault : That wraps up our show for today, we'll learn all about epidural spinals and other pain medication used during labor and delivery next week. Thanks for listening to Preggie Pals, your pregnancy, your way!
This has been a New Mommy Media production. Information and material contained in this episode are presented for educational purposes only. Statements and opinions expressed in this episode are not necessarily those of New Mommy Media and should not be considered facts. Though information in which areas are related to be accurate, it is not intended to replace or substitute for professional, Medical or advisor care and should not be used for diagnosing or treating health care problem or disease or prescribing any medications. If you have questions or concerns regarding your physical or mental health or the health of your baby, please seek assistance from a qualified health care provider.
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