Genetic testing options BEFORE becoming pregnant?
March 22, 2016 4:51 PM   Subscribe

Given my family history and recent miscarriages, how can I be proactive about ensuring that my future child will be born healthy?

I have a history of serious birth defects in my immediate family. My eldest brother was born with severe spina bifida, which resulted in profound mental and physical disabilities. He lived most of his life in a foster home for disabled children and passed away at thirteen from complications from pneumonia. He was my parents’ first child, and they subsequently had two healthy children—my older brother, E, and then me.

Nine years ago, E and his wife had their first child, a healthy son, but their second child, a daughter who seemed perfectly healthy at birth, began having seizures at around two months old. After five years of exhaustive medical testing and the gradual, painful realization that she was not developing normally (mentally or physically), they just recently received a definitive diagnosis. My niece apparently has an exceedingly rare genetic mutation that was only “discovered” about ten years ago. Very little is known about the condition, except that it’s similar in presentation and symptoms to Retts Syndrome and West Syndrome. From what I’ve read, it’s believed to be “spontaneous” (not hereditary), but I also read that there is documented evidence of the mutation occurring with two children in the same family (a boy and a girl who are siblings).

Given the excruciating process I’ve witnessed my parents and my brother and sister-in-law endure, I decided in my twenties that I would not be birthing any children of my own. Fast forward to meeting my wonderful husband, and this past fall we started actively trying to have a baby. I discussed my concerns about my family history with my doctor prior to becoming pregnant, and when I did get pregnant, we immediately scheduled a consultation with a genetics counselor. Unfortunately, prior to that appointment I had a miscarriage (at nine weeks), had a D&C, unexpectedly got pregnant again a few weeks later, then had another loss, this one a natural miscarriage at six weeks. The second loss was about four weeks ago.

Anyway, next week I have my first appointment with a reproductive endocrinologist (RE) to discuss what testing is available for the recurrent miscarriages. In the meantime, I’ve become increasingly worried that the miscarriages (which were terrible and traumatic for myriad reasons, but that’s another post) are somehow connected to my family history. I obviously have no idea if the spina bifida and my niece’s rare gene mutation are related or if my family has simply been unlucky. I know that’s something to discuss with the genetics counselor. Nonetheless, I’ve started to become preoccupied with the thought that the miscarriages are a sign of something gone awry in my genes. Honestly, I’m terrified that my initial inclination to not have children was the right one. What if, after the pain of these losses subsides and I’m able to carry a baby into the second trimester, they find abnormalities on the anatomy scan and have to terminate or—worst-case scenario for me—I unknowingly carry a baby to term that has profound disabilities?

The only way I can think to calm those fears right now is to be proactive. So my question is, when I visit next week with the RE, what are the tests I should be pushing for to rule out some potentially serious condition buried deep in my genes? (Insomuch as they can rule these things out, of course.) I recently read about karyotyping as a common test for recurrent pregnancy loss, and I’m wondering if that’s something that will rule out genetic conditions that may result in further miscarriages or birth defects. Is it normal to push for these tests before becoming pregnant again? Can I insist on seeing the genetics counselor before my next pregnancy?

Any experience or insight is so very appreciated. Two potentially pertinent details:

- We live in a sparsely populated area of the US (at least compared to the rest of the country) and do not have access to top-notch medical care, hence why I feel like I have to advocate for myself to get these tests.
- My husband and I are both freelancers and have fairly shitty health insurance, but I am willing to pay for some of these tests out of pocket, provided they don’t run into the tens of thousands of dollars.
posted by differently to Health & Fitness (17 answers total) 3 users marked this as a favorite
Our RE was(/probably still is) partnered with Good Start Genetics and the deal was, as long as you had any kind of insurance, the testing would be free. Good Start bills your insurance for all of those tens of thousands of dollars, and if insurance doesn't pay even after an appeal our two (which Good Start handles, though I forwarded our EOB to kick the process along), they just write off the whole bill. I know it sounds too good to be true but I promise that's exactly what happened for us, even on a student health insurance plan that didn't cover anything even remotely fertility-related.
posted by teremala at 5:00 PM on March 22, 2016 [3 favorites]

Oh, and when we had the tests done, I hadn't had any miscarriages that we knew of. The RE offered it on our first visit. Her office handled the blood draws without charge.
posted by teremala at 5:02 PM on March 22, 2016

I do not have personal experience with but heard about it from someone who should have pretty good information about it. He was impressed with the science and also the mission. Worth checking out, anyway.
posted by janey47 at 5:06 PM on March 22, 2016

Miscarriages are more common than most people realize. Roughly 20% of known pregnancies miscarry (and about half of all pregnancies). As I understand it, many doctors won't even start testing for conditions that could cause recurring miscarriages until after the third one.

It sounds as if you are absolutely terrified of something you just can't ever control, no matter how much you invest in trying to do so. It also sounds as if you are not giving yourself much space to mourn your two losses, which were real losses. (I don't want to dictate to you how you should feel, but I know our society often downplays or minimizes the emotional repercussions a miscarriage can have and pressures women to move on at once.) I don't know how old you are, but is trying to get pregnant something you must do at once? Can you just give yourself a little time, and then consider afresh what you want to do?
posted by praemunire at 5:47 PM on March 22, 2016 [1 favorite]

Your best bet for avoiding open neural tube defects is lots of folic acid. This stuff Is the equivalent of brand name Deplin, which is bioequivalent to 100 doses of the RDA to folic acid.
posted by wildeepdotorg at 6:01 PM on March 22, 2016 [2 favorites]

Have you considered in-vitro fertilization? You may wish to ask your doctor about Preimplantation Genetic Screening and also Preimplantation Genetic Diagnosis
posted by obscure simpsons reference at 6:25 PM on March 22, 2016 [2 favorites]

My RE had me get the Counsyl genetic test as a part of a routine screen for new patients, even though I didn't have a family history of anything. My insurance covered it. They tested my husband as well when I came back as a carrier for a specific genetic disorder -- however, insurance did not want to cover him until we sent them my records to prove it was necessary. They said if he was a carrier too, they'd send us straight to IVF and pre-implantation genetic screening of the embryos so they could weed out the ones with the disorder. Otherwise, they'd start us out with less invasive options to attempt to conceive.

For other reasons, we eventually did IVF with PGS (chromosomes only, not genes), and more than half of our embryos came back as "incompatible with life" (i.e., they would inevitably miscarry). Our first attempt with one of the good embryos worked, and I'm currently in the second trimester of a healthy pregnancy. We could have wasted a lot of time and money and gone through a lot of heartbreak if we wouldn't have chosen the additional testing -- implanting doomed embryo after doomed embryo.

Since you can conceive naturally, IVF is overkill. It's expensive and comes with its own health risks too, to both you and the fetus. But PGS does provide a way to evaluate your embryos ahead of time and improve your chances.
posted by liet at 6:26 PM on March 22, 2016 [1 favorite]

I'm sorry for your losses. I don't know how their testing compares to alternatives but my OB encouraged my husband and I to do a family prep test from before we started trying to conceive. I think insurance covered most of it since our doctor suggested it. I also told myself that whatever it costs is amortized over how many children we have.
posted by kat518 at 6:28 PM on March 22, 2016

I had one miscarriage prior to my two (high-risk, eventful, but successful and resulting in healthy girls) pregnancies. I was tested for a specific genetic mutation - a MTHFR mutation. There is some controversy about what treatment should result from knowing that you have this mutation, partly dependent on which variation you have, and, according to my doctors, on where you live. It's a relatively inexpensive test, and a relatively common mutation. It's my understanding that nowadays, they generally only recommend treatment if it is coupled with a Protein S deficiency. Both of these things are related to blood clots, which can cause miscarriages. Anyway, its a thing you might want to discuss. I'm happy to try to be more articulate about this over PM.
posted by dpx.mfx at 6:47 PM on March 22, 2016

I'm sorry for your losses.

I've had 3 miscarriages and this is what I can share. More than one miscarriage in a row is called Recurrent Pregnanct Loss, or RPL.

It's not true that you need to have three before you get the Recurrent Miscarriage panel tests, which can include getting tested the genetic "Kerotyping" test. If your RE is saying you need to have three to get the testing done- find a different RE. Some doctors don't want to do the testing because they know that it's most likely that you won't miscarry again and they see the testing as frivolous. That is not a universal opinion AT ALL. It's just an opinion, even if the doctor sounds like, super sure of themselves.

Genetic testing is complicated. You should absolutely talk to a genetic councilor- they can advise what kind of tests to take based on you and your partners personal history. The RPL panel includes kerotyping for both partners. The kerotyping is a screening- it's looking for something super duper specific. It only looks for or rules out that one thing. I can't say for sure that your insurance would cover that test- but mine did after two.

When you talk to your RE and your insurance, it is important that you make it clear that you are not an infertility patient, and that the RE should be careful to code it properly because while most insurance has very limited infertility treatment- RPL treatment (what exists) is mostly covered. Don't be surprised it the term "habitial Aborter" shows up on your paperwork. I found it upsetting but REs mostly deal with infertility- and you want that distinction so the insurance picks up more.

For me, I found people telling me how common it was to be the opposit of comforting, so I'm not going to say anything about that. I will say that the science ain't great- most women with more than one miscarriage never find out why- but the vast majority end up with a healthy baby at the end.

If I can help any more- PM me.
posted by Blisterlips at 7:08 PM on March 22, 2016 [1 favorite]

My OB did offer a genetic screening test that covers a number of disorders before getting pregnant. I bet you could demand to drive to nearest city with a prenatal genetic counselor and see them. Honestly, I think your chances of having healthy babies is still high. My sister had two miscarriages and her next two pregnancies resulted in healthy kids. Your family problems don't point to a pattern of a genetic issue you could've inherited (I am not a medical doctor).

Anyway, genetic screening before pregnancy typically looks for being a carrier for a genetic disorders (small change in dna). Kareotype would look for a huge dna change, most likely where arms of a chromosome got mixed up and so don't recombine to give baby the proper number. This type of big change would not be inherented by you and your sibling or cause the problems you describe (very very unlikely - I am still not your doctor or a medical doctor). I don't think your chances are higher for this than somebody else based on your family history. Yes, it could be what's causing multiple miscarrages, but my understanding is three miscarrages minimum before you start really worrying. Good luck.
posted by Kalmya at 7:10 PM on March 22, 2016

Oh- because you live somewhere sparsely populated:

There are some women I know who don't have a great doctor in their immediate area so they travel to see one farther away- those doctors partner with a local doctor in order to provide treatment. Don't be afraid to ask or think you're limited to who's around.
posted by Blisterlips at 7:18 PM on March 22, 2016

Your REI may very well offer you one of the commercial panels that are available for pre-conception genetic screening and for evaluation of recurrent miscarriages, but I would probably try to see a genetic counselor as well for the following reasons:

1) The one clearly gene-related condition in your family is extremely rare, not well understood, and testing for that is unlikely to be available as part of a commercial panel. If you're interested in being evaluated for mutations in that particular gene, you are probably going to need that individual gene sequenced, which may have to be done through a specialized lab or even as part of a research study. A genetic counselor can actually facilitate that kind of thing where an REI is unlikely to have those contacts or access.

2) Spina bifida, the other serious birth condition in your family, is not something that can be screened for on a prenatal genetic test. A genetic counselor can talk to you about the environmental and genetic factors known to be involved and help you estimate your risk.

I'm sorry you're having such a difficult and sad time. I hope you get some good answers and that you and your husband end up with a healthy baby--via whichever route seems best.
posted by The Elusive Architeuthis at 7:27 PM on March 22, 2016 [3 favorites]

My husband and I did genetic testing before we got married. We were referred to a genetic counselor at the local hospital who was grant funded. It was wonderful to sit with her and go over our family history and various risk factors. She then referred my husband for genetic testing. We were naive and did not specifically ask about how much that would cost; we just assumed it was part of the grant-funded genetics service offered by the hospital. We were shocked to receive a bill for more than $5,000 several months later, which our insurance absolutely refused to cover.

This was more than 5 years ago and testing efficiency/costs may have improved in the interim... but make sure you know what you're getting into.
posted by charmcityblues at 11:03 PM on March 22, 2016

From an anonymous commenter:
I am a medical geneticist and I think you should ask to see a genetic counsellor.

As I see it, there are three issues here:

1. The chance that your brother's health problems could affect your offspring. Yes, this is a possibility (1) if he had an X-linked condition and you are a carrier, or (2) if he had an unbalanced chromosome translocation and you are a carrier of that. Spina bifida is not either of these things, but it is worth double-checking that this is his correct (and only) diagnosis. A genetic counsellor may be able to access his records. And they or your RE might want you to have a karyotype (chromosome test) to rule out a balanced chromosome translocation. 1 in 400 healthy people has one, and they're a relatively common cause of recurrent miscarriage - at least in my world - and probably in your RE's too.

2. The chance that your niece's health problem could affect your offspring. If she has a new mutation (as do most children with genetic epilepsies) then your children are at population risk of whatever she has. They are also at population risk of every other condition caused by a new mutation, and there is really not much you can do to screen for those ahead of time, other than having standard screening (ultrasounds and so on) during pregnancy.

3. The chance that you and your husband are both carriers of a the same recessive disease. This is what the Counsyl screen tests for (this test is highly optional, though the website would have you believe that every responsible person should take it). The most common of these diseases is probably cystic fibrosis, and the chance that the average couple are both carriers of that is less than 1/600. The others are all even rarer.

Good luck.
posted by taz at 3:13 AM on March 23, 2016 [6 favorites]

First of all, I am sorry for your losses.

Second, I had a sister (younger) who went through a very similar type of life to your brother, so I get that. It literally tore our family apart so I was terrified when I was pregnant and had ALL of the testing done.

Add to that a history or early miscarriages, so I had ALL of the testing done in regard to my fertility as well.

You can get karyotyping done prior to getting pregnant, but that only covers some bases. As mentioned above, yes, you should absolutely get a referral to a genetic counselor. Be aware that any testing done prior to becoming pregnant most likely will not be covered by insurance. However, paying for the testing out of pocket is surely cheaper than living with a disabled child imo.

A more immediate test that you can easily do via bloodwork is to test for the MTHFR mutation; this is a mutation that basically means you do not metabolize B vitamins well, and you have to supplement. I have this mutation, as does approximately 45% of the population. The reason why women are told to supplement with folic acid if they are trying to become pregnant is because folic acid is influential in helping the fetus' spinal nerves develop and the spinal column to fuse, all of which take place in the first few weeks of development. If this does not occur properly it can result in early miscarriage. Which is why it's important to know if you have MTHFR and if you need additional supplementation (for example, the normal supplement amount is 400mcg; per my counselor I take 10x that dose every day).

With all due respect to wildeepdotorg's advice above, I would advise taking folate, rather than folic acid, as it is a more bioavailable form of the vitamin. I personally like the Dr's Best brand as it is relatively inexpensive, but I suppose you might be able to get a prescription that would help with the cost.

A note about RE's: It's great that you are moving forward to talk to an RE. I interviewed several, and have several friends who went down that path as well so I know about all of the good docs in my city and the not so good ones. The "bad" docs said to me "well, you could do procedure a, b, or c and see what happens..." Um, no, you are the expert in the field and I am paying you for your expert advice, not for you to let me guess about which procedure might work. The doc I ultimately chose was the one who said to me "we aren't going to waste time with procedures a, b, and c. We already know that you can get pregnant and those procedures will just cost you money, and I already have enough money. We want the best embryo for you so that your chances of success are the highest, so that is why I recommend procedure x." And we were thankfully successful. It can be stressful to think of working with an RE due to the cost, but my doc was right, you don't want to waste time if you have a known concern.

Best advice I can give you; find out who your doctors go to for this type of testing. Ask your GP, ask your husband's urologist, ask your chiropractor, ask your dentist. Go to the doc that all of the doctors in town go to. Again, even if it's out of pocket. Especially for any invasive procedures. You won't regret it.

Bottom line, you absolutely have to advocate for yourself in this situation, as it is more important to you than to anyone else. Don't be afraid to ask questions if you don't understand what's happening, and don't be afraid to say you don't understand and ask them to explain again. A good doc will understand that.

Join RESOLVE for your local area for support and questions about docs local to you. Feel free to memail me too.
posted by vignettist at 10:33 PM on March 23, 2016

Thank you so much for ALL of these answers. I can't express how helpful they were in preparing to meet with the RE this week. It also just means a lot to hear the stories of those who have had similar experiences with miscarriages and/or birth defects in the family (and anon, you are awesome for taking the time to share your expertise in this area).

After consulting with our RE (and she was wonderful—luckily the medical care is much better in the next town over), looks like we will be doing some bloodwork to look for the most obvious causes of the miscarriages, as well as karyotype testing and one of the standard genetic screening panels. We will also consult with the genetic counselor, who will obviously be able to give us a more comprehensive assessment of our risks. If I miscarry again, she assured me they will test the tissue for chromosomal abnormalities. And yes, extra folic acid as well.

I do realize this whole experience has exacerbated my anxiety and need for control, so we are going to take several months off before delving into all this and trying again. Honestly, if our insurance would pay for IVF and PGS, I would do it in a heartbeat. But alas. The RE gave me the name of a counselor in our area who specializes in infertility, and I will be calling her soon. Thanks again, everyone.
posted by differently at 3:19 PM on April 1, 2016

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