SART Fertility Experts - Preconception Counseling

My name is Dr. Shelby Neal and I am today's host of SART Fertility Experts. Today we are going to be discussing preconception counseling. We're very fortunate to have Dr. Sarah Shea joining us today.

Dr. Shea is a maternal fetal medicine specialist at Duke Health. She takes care of women during high-risk pregnancies, but also provides preconception counseling for women who are planning a pregnancy. Thanks so much for joining us today, Dr. Shea.

Of course, thanks for having me. So as a fertility specialist, I constantly get questions from my patients about what they can do in advance of pregnancy in order to optimize their chances of having a healthy pregnancy. One common question that I get, particularly from patients who previously conceived through the help of fertility treatment and are now returning for a second baby, is, you know, how soon is too soon to start trying? Can you speak a little bit about this topic and specifically what is the optimal interpregnancy interval and why is there a recommendation surrounding this? Sure.

So I would say the optimal interpregnancy interval, which is defined as the time between delivery of one child and conception of the next, is 18 months. And any pregnancy that occurs at less than that interval is considered a short interval pregnancy. The interval of 18 months comes from various studies that have looked at different maternal and neonatal outcomes, including maternal anemia, nutritional depletion, preterm birth, low birth weight infants, birth defects, and neurodevelopmental disorders in children.

And these studies have shown that at intervals of less than 18 months between two pregnancies, that risk of those things goes up significantly. And then when they looked at even shorter intervals with less than six months between the first and second pregnancy, the risks of those things go up even more. And so they found that at that 18-month mark, the risk of certain adverse outcomes are really similar to the general population, which is why we recommend that 18-month interval.

While that interval, I would say, is for every pregnant person that I see, I think there's specific groups of people where it's even more important. The two that come to mind to me are those with a history of a prior preterm birth and those who underwent a cesarean section with their last delivery. For the individuals with histories of preterm birth, we know that those individuals are at a higher risk of having another preterm birth in the future.

And then when you have a short interval pregnancy on top of that, the risk of having a recurrent preterm birth is even higher because your body hasn't been able to recover appropriately from the prior pregnancy. In those individuals with a cesarean delivery in their prior pregnancy, a short interval pregnancy has been shown to have an increased risk of uterine rupture and also an increased risk of maternal morbidity and need for blood transfusions at delivery, really due to the inability of the body and the uterine scar to heal appropriately. That's really helpful to hear all of it spelled out in that way because certainly as physicians, we want our patients to minimize their risk of complications during pregnancy.

But I think also our patients very much want to avoid the types of outcomes that you have mentioned. And it's not necessarily intuitive that a certain inter-pregnancy interval would predispose patients to better or worse outcomes such as the ones that you named. So thanks for going through that.

I wanted to switch gears and talk a little bit about genetic screening next. I think most people are aware that prenatal genetic testing is available once a pregnancy has been achieved. But is there any genetic screening that you recommend for women in advance of becoming pregnant? Yes, absolutely.

I will say that my recommendations for what we would call preconception genetic carrier screening depends a little bit on what the patient would do with the information. I recommend preconception genetic screening to individuals and couples who would want to know prior to pregnancy if their future baby was at an increased risk of being born with certain genetic disorders in the event that a couple would want to know their reproductive risk. The disorders that we generally recommend for all women contemplating pregnancy really consists of three.

The first is spinal muscular atrophy, which is the number one genetic cause of death in infants. The second is cystic fibrosis, which is an inherited disorder that can lead to severe lung damage and abnormalities of the digestive tract. And then hemoglobinopathies, which are red blood cell disorders.

I think the most, the one that most people are familiar with is sickle cell disease. In addition to those three, there are also other carrier screening recommendations that I sometimes give based on specific ethnic populations. One being the Ashkenazi Jewish population.

I recommend carrier screening for cannabinoid disease, familial dysautonomia, and T-sex disease as these diseases are more prevalent in that population. For any individuals with a family history of Fragile X or an intellectual disability suggestive of Fragile X, I will recommend carrier screening for the Fragile X gene pre-mutation. And then of course, if there is a known family history of a genetic disorder that can be tested for, then I would certainly recommend carrier screening in any individual who has that sort of history.

Thank you for that overview. One additional thing I wanted to ask you is, you know, there are so many different genetic testing companies and panels available with some of them checking for the conditions that you already mentioned, and then others check for hundreds of different conditions, including ones that are relatively rare. Even as someone relatively educated about this topic, I still find the options to be overwhelming at times.

How do you counsel patients about whether or not to pursue expanded carrier screening, those larger panels that check for many recessive conditions? We base our recommendations on how prevalent a disease is in the population. So our recommendations really are for the most common genetic diseases that we see. Like I said, if there is a family history of a more rare genetic disorder, then certainly I would recommend carrier screening for that.

However, if the disease is relatively rare and there's no red flags in terms of a family history, I generally don't recommend expanded carrier screening because I think the likelihood of finding two individuals in a couple to both be carriers of an extremely rare disorder to be very, very low. And I would agree with you there. I've had patients who've been interested in expanded carrier screening, but I can't really even recall one instance of a couple who tested positive for some of these rare genetic conditions.

Switching back to kind of the more prevalent conditions, what happens if you do have a couple in which both partners are found to carry the same recessive genetic condition? What would be options that those couples could consider? Typically when I have a couple where both are carriers of a genetic disorder, I will refer them to a genetics counselor to discuss more specifically their reproductive risks. And then I think you have a few different options at that time. One, if you wanted to decrease the risk of having an affected offspring, then my recommendation would likely be to go see a reproductive endocrinologist to discuss advanced reproductive technologies that would allow you to really select out any affected offspring.

Alternatively, if you didn't want to do that in the preconception time, you could simply go ahead and get pregnant. And then there are testing options when you are already pregnant, which the main ones I'm thinking of would be an amniocentesis or a chorionic villi sampling, where we could take a sample of the amniotic fluid or the placenta and send that sample off to the lab to test the fetus that way. Okay.

Well, great. Moving on to a little bit of a separate topic, I wanted to talk about immunizations. Some immunizations we know can be safely given during pregnancy, but some cannot.

Can you speak a little bit about which immunizations women should be sure to get before conceiving versus which ones are safe or maybe even recommended to receive during pregnancy? The Center for Disease Control recommends that all reproductive-aged females should be vaccinated against or immune to measles, mumps, rubella, varicella, human papillomavirus, the flu, tetanus, diphtheria, and pertussis. And then in addition to those recommendations, for individuals who have certain underlying medical comorbidities, vaccination against hepatitis A and B, pneumococcus, meningococcus, and H flu type B are also recommended. Of all of those, the three that I would recommend before becoming pregnant, assuming that you're already immune to them, are the measles, mumps, and rubella vaccine, the varicella vaccine, and the HPV vaccines.

The reason that I recommend those before pregnant is because the measles, mumps, and rubella and the varicella vaccines are live attenuated virus vaccines. And we don't like to administer live attenuated virus vaccines while a patient is pregnant. And so what I typically will tell patients if I see them for a preconception visit is we should check to see whether or not you're immune to rubella or varicella.

Because if you aren't, I'd like to administer that vaccine prior to you becoming pregnant. The HPV vaccine is not a live attenuated virus vaccine, but it is a relatively new vaccine. And so at this point, it is not contraindicated in pregnancy, but we're not currently recommending it in pregnancy just because it's newer and we don't have a ton of data on whether or not there are adverse effects associated with it in pregnancy.

In terms of vaccines that I definitely recommend to pregnant individuals, I recommend the flu vaccine provided that it is flu season. And I also recommend the Tdap vaccine, which consists of tetanus, diphtheria, and acellular pertussis. And I recommend that you get that every pregnancy, mainly for the purpose of it crossing the placenta and actually providing some immunity to your fetus while they work to develop their own immune system, which can take some months after birth.

What happens if someone does not come to a physician like you in advance of planning pregnancy and later find out during pregnancy that they are not immune to, say, rubella or varicella? How would you counsel that patient and what would you have to offer them in the case that they are already pregnant with this knowledge? So fortunately, rubella and varicella are not very common in the modern day age, thanks to vaccines. So therefore, the risk of acquiring either of those infections during pregnancy is relatively rare, but not zero. And so if we were to find out that you were not immune to varicella or rubella, what we typically will do is just recommend you get the vaccine in the postpartum period.

Okay, that makes sense. I wanted to also ask about one of the newest vaccines, the COVID-19 vaccine, because I get a lot of questions from my patients these days about whether or not it's safe to receive the COVID-19 vaccine if you're trying to conceive or if you are pregnant. Can you walk us through how you counsel patients on this topic? Sure.

I know that there have been a lot of claims linking the COVID vaccine to infertility, and I know that there are a lot of people who are understandably nervous to get a vaccine that, when compared to other vaccines, has been developed very rapidly. But from what I know and what we know about the mechanism of action and the safety profile of the accessible COVID-19 vaccines, so that includes the Pfizer, the Moderna, and the J&J, we know that they are not a cause of infertility. Additionally, there's a growing body of evidence that demonstrates that seropositivity to the spike protein of the COVID virus, whether that's from vaccination or infection, does not prevent embryo implantation and does not interfere with early pregnancy development.

And the main source for this data and for COVID vaccines before and in pregnancy comes from the Be Safe Vaccine Pregnancy Registry, which includes women who have received their COVID vaccine in either the periconception period, so within 30 days before their last menstrual period, or during pregnancy. And it currently has a little bit over 5,000 enrollees. And a few studies have been performed with this data so far and really show no difference in adverse outcomes between vaccinated and non-vaccinated individuals.

And what they looked at was miscarriage rates, birth defect rates, stillbirth, preterm delivery, and small for gestational age. And the outcomes between the two groups were very, very similar. In addition to that, what we do know about COVID is that if a pregnant individual does get the COVID infection, she is at a much higher risk of severe morbidity and mortality when compared to her non-pregnant counterpart.

And so because of what we know about the disease in pregnancy and what we know preliminarily about the lack of adverse effects of the vaccine on pregnancy and fertility in general, I recommend the vaccine to all of my pregnant patients and all women of reproductive age, regardless of if they're trying to conceive or not. Thank you for so eloquently summarizing what we know about the vaccine to date. It seems like every day we're accumulating more and more data regarding its safety and, you know, that in turn, you know, helps patients to feel comfortable getting the vaccine, whether they are planning pregnancy or already pregnant.

Let's shift gears now and talk about lifestyle modifications. Are there any specific dietary changes that women should make when they're trying to conceive? I think that, you know, oftentimes women see this as an easily modifiable thing that they can do. And if there is, you know, data to support, you know, increased fertility or increased health during pregnancy by following a specific type of diet, then most of my patients would be very, you know, amenable to those types of suggestions.

What kinds of dietary changes, if any, do you recommend that women make when they're planning a pregnancy? Yeah, so I would say that the optimal diet for someone attempting conception is really focused on a well-balanced diet that is actually similar to those individuals who are not trying to conceive, with a focus on a variety of vegetables and fruits, whole grains, fat-free or low-fat dairy, and proteins. I actually usually refer my patients to a website, www.choosemyplate.gov, which has been designed by the U.S. Department of Health and Human Services, which helps you plan and eat a healthy diet. But in addition to that, I tell my patients who are either pregnant or trying to become pregnant to focus on a few other things.

One of those things is ensuring that they have enough folic acid in their diet. Folic acid is a B vitamin that helps prevent neural tube defects in fetuses. And so when we think about foods that are rich in folic acid, we often think about leafy, dark green vegetables, legumes, citrus fruits and juices, berries, grains, and breakfast cereals.

In addition to folic acid, I always recommend that my pregnant patients or individuals who are looking to become pregnant make sure that they have a good amount of fish in their diet. So fish have been shown to help with babies' neurocognitive development. And the recommendation is for approximately eight ounces of seafood per week, but making sure that you choose fish that is lower in mercury.

And then lastly, women who are pregnant are at an increased risk of developing anemia during pregnancy. Anemia is low red blood cell counts. And one way to combat this from developing is by making sure you have iron-rich foods in your diet.

And so iron-rich foods would include red meats, poultry, fish, and shellfish, and then leafy green vegetables. In addition to a diet, I think that part of anyone's dietary plan should include exercise. In general, I recommend patients should try to exercise moderately for at least 30 minutes a day for five days a week.

I understand that that can be really difficult with all the other things that patients have going on in their lives, but any amount of exercise would be beneficial. Let's say that we have someone who has a perfectly balanced diet with all the components that you mentioned. Is there any need for any kind of supplements during pregnancy? So that's a great question.

And I really encourage my patients when trying to figure out whether they need to add any supplements to look closely at the nutritional labels of the things that they're eating. Regardless of what you're eating, I recommend a prenatal vitamin for every reproductive aged women, regardless of if they're trying to conceive or not. Many prenatal vitamins do contain folic acid, iron, and calcium.

However, if your prenatal vitamin for whatever reason does not include one of those things, and you're not getting them enough from your diet, then I would recommend supplementation of those things if you're planning pregnancy. So what we do know is the recommendation for folic acid for the amount of folic acid daily is 400 micrograms. So what I usually tell my patients is look at what you're eating in a day, add up the amount of folic acid that you consume, and if it's 400 micrograms, great, you don't need to supplement with anything.

But if it's not that, I would recommend supplementation with a folic acid capsule or tablet. The reason folic acid before pregnancy is so important is that it is most beneficial in the first 28 days after conception when the fetal nervous system is developing. So the nervous system of your fetus is developed usually before most women even know that they're pregnant, which is why it's so important to make sure you have enough folic acid in your body before you're even attempting pregnancy.

I'm glad that you mentioned that, because I think it's a common misconception that a prenatal vitamin really is only for after a pregnancy is established. I frequently, you know, work with patients who are planning pregnancy but have not yet started taking a prenatal vitamin, and I always encourage them to start taking one. I completely agree with you that all women of reproductive age could benefit from being on one.

I frequently get questions from patients about caffeine and alcohol consumption while trying to conceive. How do you counsel patients regarding these topics both, you know, in the preconception period but also during pregnancy? So when we look at caffeine consumption, what we do know is that there has been some evidence that suggests that high levels of caffeine consumption, more than 500 milligrams daily, does have some association with decreased fertility. Other studies that look at more moderate caffeine consumption, typically around 200 milligrams per day, show that that does not appear to be a major contributing factor to infertility or miscarriages or preterm birth.

And then when you look at the 500 to 200 milligrams daily range data, it's kind of conflicting reports. And so because of those conflicting reports, I typically recommend to patients who are both trying to conceive as well as pregnant patients that 200 milligrams daily, which is equivalent to about one to two cups of coffee per day, is safe in pregnancy, but I really wouldn't go above that. That's how I counsel patients as well.

I think oftentimes there is this idea that completely cutting out caffeine is what is needed in order to get pregnant or in order to have a healthy pregnancy. But I think, you know, most of the data, as you said, is pretty reassuring that, you know, one or two caffeinated beverages a day is acceptable. What about alcohol? That is a question that I do get often.

And I always tell my patients, you know, there really is no established safe level of alcohol use during pregnancy. Fetal alcohol spectrum disorders are, you know, the most severe result of prenatal drinking and are associated with central nervous system abnormalities, growth defects, abnormal facial features in the fetus. And we know that alcohol can affect a fetus at any stage of pregnancy, but that these cognitive defects and the behavioral problems that can result from it are lifelong and can be detrimental.

And so because of this, and because there's, you know, we don't know, we can't say for sure, oh, it only impacts you later on in pregnancy or once the embryo is already formed, I recommend that women who are actively trying to become pregnant, as well as those who are already pregnant should abstain from alcohol consumption. You touched a little bit earlier on exercise. And I think that kind of ties into the next topic I wanted to ask you about, which is related to body mass index.

I think, you know, we can agree that achieving and maintaining a healthy BMI is a goal that everyone should strive for. But I think it's particularly important for women planning pregnancy. Can you discuss some of the reasons why women should strive to achieve a normal BMI prior to becoming pregnant and specifically talk about, you know, some of the risks in pregnancy at higher BMIs and also if there are some at lower BMIs? So for higher BMIs, there are a multitude of maternal and fetal pregnancy complications.

The reproductive risks that we see with obesity include miscarriage, birth defects, preterm delivery, gestational diabetes, gestational high blood pressure, need for a cesarean delivery, and development of blood clots in your legs or in your lungs. And these are all, the risk is directly associated to how significantly elevated your BMI is. On the flip side, in women with a low BMI, those individuals are usually at risk of, or the main risk that we see is having a small for gestational age fetus or a low birth weight infant.

And by achieving a normal BMI prior to pregnancy, you are significantly decreasing the risks associated with either high BMI or low BMI. And that's why we really recommend trying to strive for that normal body mass index prior to becoming pregnant. I think a lot of times women can be concerned about whether or not their body mass index is impacting their ability to get pregnant.

And certainly I talk with women about that on a regular basis, but I think what is even more motivating for women is hearing about some of the complications that can arise in pregnancy at BMIs outside the normal range. So it's helpful to hear about that. Up until this point, we have discussed general preconception advice that applies to essentially anyone trying to conceive.

Frequently in my clinic, we are working with women in their late 30s and their 40s who want to get pregnant. Can you talk a little bit about the term advanced maternal age and specifically what does it mean? And are there any special considerations for women who are of advanced maternal age? Yeah, so advanced maternal age, you may often hear it referred to as AMA, is defined as maternal age of 35 or greater at the time of delivery. And it is associated with a few different things.

The first thing that I always talk to my patients about is an increased risk of aneuploidy, which is an abnormality in the number of chromosomes in a fetus. So for example, a patient who's 35 has an increased risk of Down syndrome, having a baby with Down syndrome, and that risk is about one in 250. And the older you get, the more that risk increases.

But because of that risk, a lot of my patients like to speak in depth with a geneticist counselor to go over what their risk is and to discuss options for testing once they're pregnant. There are a few different types of tests that are available. Some of them are screening tests, which really just say whether or not the fetus is at an increased risk of having one of the most common aneuploidies.

But there's also options for diagnostic testing, which would be by an amniocentesis or chorionic villi sampling, which I mentioned previously. But again, we would take a specimen from the amniotic fluid or the placenta to determine the fetal chromosomal makeup. In addition to aneuploidy, advanced maternal age does put individuals at increased risks of miscarriages, birth defects, gestational diabetes, hypertensive disorders in pregnancy, stillbirth, caesarean deliveries, abnormalities of the placenta, and multiple gestations or twins and triplets.

And these risks also go up with increasing age. Why do you mention that the risk goes up with increasing age? Because I think oftentimes advanced maternal age is sometimes a diagnosis that gets put in someone's chart. And as you said, it's, you know, age 35 or older at the time of delivery.

And so I think sometimes our patients are under the impression that, you know, something happens at age 35, and all of a sudden they're in this worse category. But it really is kind of more of a spectrum with increasing risk, according to increasing age, rather than something that happens all of a sudden at age 35. I feel like explaining that to my patients sometimes comes as a relief to them that, you know, being 35 and a half years old doesn't necessarily mean you're doomed for a complicated pregnancy.

But it is important to be aware of all of those risks, especially as women get older. Kind of along the same lines, the availability of donor eggs has made pregnancy possible for much older women who may not be able to conceive using their own eggs. Are there any special considerations for women who are planning to become pregnant at an older age, for example, someone who is over the age of 45? Yeah, I'm glad that you kind of honed in on the, you know, getting pregnant at 35 is not the same as getting pregnant at 45.

And I think, you know, the main thought process behind that is that pregnancy causes a whole host of changes to a woman's body. I think the main one that people think about is that pregnant women will experience a substantial increase in their blood volume as they're now responsible for providing blood, oxygen, and nutrients to not one, but now two individuals. And as a result, the pregnant woman's heart works much harder than outside of pregnancy.

Older women, often simply just by being alive longer, are more likely to have medical comorbidities like type 2 diabetes or thyroid dysfunction or high blood pressure and heart disease when compared to their younger counterparts. And I would say, you know, a 45-year-old's medical comorbidities are going to be different than a 35-year-old's medical comorbidities. But in an older woman age 45 or above, or even someone who's 40 with high blood pressure and diabetes is thinking about becoming pregnant, I would recommend that she make sure that she has seen her primary care physician recently to make sure she's up to date on her general checkup and recommended lab evaluation that usually includes thyroid function tests to look at her thyroid function, a lipid panel, a hemoglobin A1c to assess for diabetes, and really to assess kind of her generalized medical status at the time.

And then in addition, in patients who have long-standing heart disease or high blood pressure or obesity or diabetes, I usually will recommend getting an EKG and possibly even an echocardiogram to really assess their current heart health. And ideally, these things would be done prior to conception so that a patient could be counseled appropriately by a maternal fetal medicine physician regarding the risks of her pregnancy based on her age and her medical diagnoses. You mentioned preconception counseling with a maternal fetal medicine specialist, and that's something that I wanted to ask you about.

I think, you know, a lot of the recommendations that we've discussed today, like taking a prenatal vitamin or avoidance of alcohol are ones that OBGYNs and fertility specialists feel very equipped to counsel patients about. But I wanted to ask when should patients be referred to a maternal fetal medicine specialist such as yourself for more in-depth preconception planning? Are there specific conditions? You don't necessarily need to give an exhaustive list, but I'm curious like what are some of the more common things where you do think it is helpful for a patient to be seen by a maternal fetal medicine in advance of pregnancy? So I would say in general, anyone who has a long-standing history of type 2 diabetes or high blood pressure that has required medication to control individuals with autoimmune disorders such as lupus, individuals who are morbidly obese, I would certainly consider an MFM consultation. And then I think advanced maternal age is a reasonable consult, but to be honest, I really do feel like sometimes they would benefit more from a genetics counseling standpoint or at least a combined genetics counselor and MFM consultation.

That's helpful to hear. I think if I were to refer you all of my advanced maternal age patients, you would be seeing probably two-thirds of my patients, but certainly I do think there is a role for it, particularly if a patient is concerned and wants more information about genetic risk during pregnancy. We are nearing the end of our time together today, but I wanted to thank you for sharing your expertise with us.

I think that preconception planning is a topic that comes up often for both of us, and I know that there are many women out there who appreciate having the information that you shared with us today. So thank you so much for joining us. Absolutely, I enjoyed my time.

The information and opinions expressed in this podcast do not necessarily reflect those of ASRM and its affiliates. These are provided as a source of general information and are not a substitute for consultation with a physician.