Nuchal Translucency Screening

{Pardon the tardiness on this topic -- I started this post months ago but never finished it.  Better late than never though, right?!}

The nuchal translucency scan takes place in the latter part of the first trimester, sometime during weeks 11-13.  It's a special ultrasound scan designed to screen for chromosomal defects -- particularly trisomy 13, 18 and 21 {Down Syndrome}, in addition to congenital heart defects.

Combined with specific blood tests, the nuchal translucency ultrasound is called the "first trimester screening".   It's a "non-invasive" way of assessing a baby's risk of chromosomal abnormalities, which means there are no needles and no physical risk to having the screening done.  Since this test is a screening {as opposed to a diagnostic test} it will not provide a 100% accurate or definitive answer -- it's more of a gauge of whether things look generally normal or problematic.  It gives the doctor a general indication of whether there is cause for concern, or need for additional testing, such as an amniocentesis or CVS test.

Here's an illustration of the measurement the ultrasound is designed to screen, along with a more detailed explanation of the screening taken from this source:

Source

The nuchal translucency is the fluid found at the back of your baby’s head and neck, just beneath the skin. The thickness of this fluid can be precisely measured and this is called the nuchal translucency (or NT) measurement. Normally the amount of fluid is small, producing a thin NT measurement.

We know that the amount of fluid can increase in the presence of certain conditions, producing a thicker NT measurement. Conditions associated with an increased NT measurement include some chromosome abnormalities (for example, trisomy 13, 18 and 21) and some structural problems (for example, heart abnormalities). An increased NT measurement does not always mean the baby has a problem but it does increase the risk.

{You can also read more about the NT test here and here.}

Our NT screening took place on November 7th, at 11.5 weeks gestation.  I have to admit, I was pretty nervous going into it, especially since we knew our first baby's miscarriage was a result of chromosomal abnormalities.  The 20 minutes or so spent in the office waiting room before being called in seemed to crawl by {especially since I had to pee but wasn't allowed}, and the several minutes during the screening during which the technician measured and took photos and notes but didn't provide any sort of medical insight lasted FOREVER.

The technician did, however, call our baby "cute" while she was conducting her measurements.  While I'm sure she says that to all the patients, we took it to heart and totally agree.  :)

After about 10-15 minutes of ultrasound measurements and photos, we were escorted in to meet with the doctor.  Thankfully, she had EXCELLENT news for us.  According to the screening, our chances of having a baby with any chromosomal abnormalities were extremely low.  Our specific risk profile for Down Syndrome is 1 in 4,463, and for Trisomy 18/13 is 1 in >10,000.  Better yet, the risk ratios matched that of a 20 year old mother, which made me feel pretty good since I'll be turning 33 in a couple weeks.  ;)  Needless to say, we both breathed a HUGE sigh of relief after receiving these results.  Though there are no guarantees, these odds are pretty favorable!

The NT is often followed up with a second trimester blood draw {usually called a multiple marker, triple or quad screen} to check on the probability of open neural tube defects.  We'll definitely be waiting for those results, but for now will just be thankful for these great numbers!

My Miscarriage Exprience

Have you ever heard that getting negative thoughts out of your head and onto paper {or in this case a computer screen} removes their power over you?  Well, this post is my way of investigating that theory.  I realized I've never written out my actual miscarriage experience.  As it was both physically and emotionally traumatic, I thought perhaps by writing everything down it might become less scary to recall or carry around with me as a part of my past.  So here goes...

Warning:  This post is a bit graphic and contains what some might consider TMI.  Proceed at your own risk!

There are multiple types of miscarriage... natural/spontaneous, induced through drugs, surgical.  In my case, I started miscarrying naturally, though was prescribed drugs to help the process along and ended up getting a MVA {a.k.a. Manual Vacuum Aspiration - similar to a D&C but uses vacuum aspiration instead of scraping to remove the tissue, and does not utilize general anesthesia so you're awake in the dr's office}.

When I started miscarrying, I was nearly 11 weeks along into my first pregnancy and didn't know any of this info.  Looking back, I don't feel that my OB gave me all the info I needed to prepare myself as much as possible for the experience, so I'm hoping by sharing my experience that I can help inform others' and maybe draw your attention to some different options.  Read how my scenario played out below.  {I've tried to keep the descriptions as "objective" as possible without a lot of emotional narration.}

Sunday mid-afternoon:  After getting out of the shower, I felt the urge to pee. I didn’t have any pains, but there was a certain discomfort in my pelvic area that made me want to pee before even getting my robe on. Looking down, I saw bright red blood come out in my urine stream and immediately my heart sank. I threw my robe on, screamed for my husband, hopped into bed and propped my feet up on pillows. The time was 2:30pm. I called my OBGYN’s emergency service line and anxiously awaited a return call. The on-call doctor happened to be the one I saw at my recent visits, and she returned the call within a few minutes. She asked whether I had fallen or had any cramps or pain {which I didn’t} and advised that unless I was soaking a pad an hour {which I wasn't -- the blood was really only coming out when I urinated} to wait until Monday morning to come in.  For several hours after that call I laid in bed, scared to death. I knew bright red blood could be bad, but I didn’t have any pains and the blood only seemed to be coming out when I urinated. Of course I spent the rest of the day searching for and reading info about miscarriage, and was generally terrified at the mere possibility.  I don't know if I was too gullible or desperate, or both, but I came across some posts online from women who experienced scary-sounding bleeding during pregnancies that ended up being totally fine.  And, we'd already seen a very healthy heartbeat at 8 weeks, so I tried to convince myself we'd also be fine.  After doing my online research, I slept with my legs up on a pillow and hardly bled on my pad at all at night.

Monday AM:  Woke up, checked for blood. There was a little bit on my pad but no clotting and no pains.... yet.  By the time I got to my doctor's office at 10am though I felt the cramping pretty badly {similar to period but more severe}, and felt the bleeding worsen. Upon arrival at the office, my OB confirmed the embryo was not detectable in the uterus and I was miscarrying. She advised me to try to let the process complete naturally, and sent me home with 4 pills of Methotrexate to take every 6 hours over the next 24 hours to help the process along. The pills caused my bleeding to worsen and the cramping to be VERY severe at times {especially for about 1 hour after each dose}. I've never given birth so I can't say for sure that the pain was like contractions, but it seemed like it to me. Thanks to the pain, I barely slept at all that night which honestly made everything a lot harder to handle.  My OB underplayed the pain I would feel from these pills; had I known I would've tried to time the pills differently so I could've tried to get at least some sleep during the night.  {Side note: I ended up passing a large clot-like tissue in the middle of the night which was about the size of a flattened prune, which for some reason I decided to put in a jar during my hysteria after seeing it because I think I had read something about doing that on a message board. This was VERY traumatic to go through at home, but the tissue sample ended up being used for lab analysis and it was determined that chromosomal abnormalities were the cause of my miscarriage.  So, although this was a very painful thing to have gone through and have seared into my memory, it helped provide me with information that confirmed the miscarriage was not a result of anything I did wrong.  Therefore, if possible I'd advise other women who have the opportunity to do this as well.  My doctor never mentioned the possibility that this could happen, which I feel was a very important omission.  Seeing something like that come out of me is something I'll never ever forget.  It was something I feel I should've been more prepared for by my doctor, not some random online message board I'd once skimmed after finding out I was pregnant.}

Tuesday: After all that physical and emotional trauma, my OB didn't think the progress was significant enough because my uterine lining was still "too thick" for her liking, so she scheduled me for a MVA for Wednesday AM and sent me home with more RXs to take "in order to prepare for the procedure".

Wednesday:  Had to take Misoprostol pill {plus some antibiotics} 2 hours prior to my MVA.  The instructions were to insert vaginally but luckily I had the guts to ask my doctor on Tuesday if there were any other possibilities, and she told me I could put it under my tongue.   {Another thing I would've appreciated her being more forthcoming about!}  At the time I didn't know the side effects/reasons for taking the Misoprostol; I thought it was required for the MVA because she didn't really explain any other reasons for taking it.  However, it had an effect on me similar to the Methotrexate, though without as much cramping pain {but definitely some!}. Since my own experience, I've read up on these drugs and I now know that both the Methotrexate and the Misoprostol are not necessary to take prior to a MVA or D&C -- they're usually used instead of the surgical options.  After taking them, it is also typically recommended to wait anywhere from 1-3 months before trying to conceive again, which was not disclosed to me by my doctor.  I don't know that I would've refused the scripts, but it would've been nice to have the information prior to picking up the pills from my pharmacy and being blindsided, while experiencing severe physical pain and sleep-deprivation.

{Read about my MVA experience here.}

*****

So, what started out for me as a "spontaneous" natural miscarriage ended requiring pills, more pills, and a surgical intervention to complete.  Those 3.5 days were exhausting.  The good news is that about an hour or so after the MVA procedure was complete, the cramping and pain stopped, which was a huge relief.  I was able to take an additional 2 days off from work, which allowed me to sleep, mope and cry at will, and watch TV to try to take my mind off of what I'd been through.  Asking for that additional time off was a good decision.

In sum, the miscarriage process can be hard on your body and emotions, and all treatment options have their pros and cons. It is a personal preference whether you prefer to be at home in private, whether there is someone who can stay with you at home in case of emergency, whether you just want to go the surgical route and get it over with quickly but with the caveat that there will be lots of doctors and poking and prodding involved, etc.

My experience was a combination, so I can now see the pros/cons of the different options. But, all of the steps I experienced occurred at the direction of my doctor -- I was in too much shock to really ask any questions or ask about other options, I just followed orders blindly and cried. The only thing I'm thankful for is that I somehow thought in a moment of panic to capture the tissue sample I passed at home in the middle of the night, because that was the only tissue able to be tested for genetic abnormalities. {There was no useful tissue collected from the MVA.}  That one event ended up being really helpful in my process because it provided some type of information and some form of an answer to explain what had happened.

My advice to anyone out there going through this is to take care of yourself, lean on friends and family for support, and follow your instincts.  Do what feels right for YOU and ask lots of questions until you get the information you need.  Once it's over, take time off from work if possible to rest and try to heal emotionally and physically after the medical process is over.  Nobody should have to go through this -- sadly, too many of us do.

Normal!

We finally got the much anticipated call from our Genetic Counselor, and we're normal!  {Chromosomally speaking anyway.}  Our karyotype results show that my husband and I each have 46 normal chromosomes, with no translocations.  That's good news.

It means the chromosomal abnormalities that caused our miscarriage were not inherited; they were "de novo" or new, likely due to errors during cell division.

It doesn't mean that they won't occur again; it's certainly not impossible, though from the research I've done so far, it seems improbable that we'll experience a chromosomal abnormality twice in a row.  As we've come to realize, there are no guarantees -- but I'll happily accept this prognosis.

This has been the longest 13 days of my life.  Who am I kidding... it's been the longest 53 days of my life.  Although hearing these results don't change or lessen in any way the loss of our first pregnancy, confirming that the miscarriage was not due to any inherited abnormalities does, finally, give me some sense of hope back.

We still have a few unanswered questions, I plan on doing some more research online, and we'll likely place a follow-up call to the Genetic Counselor to obtain more information; but for now I'm going to enjoy this small bit of relief.

Genetic Counseling Update

We met with a genetic counselor from NYU as scheduled on Thursday of last week.  She began the session by explaining that 1 out of 500 people in the general population have a balanced translocation, which predisposes them to conceptions with too much or too little information (i.e., an unbalanced translocation).  She then went on to state that although we were referred for genetic counseling due to the labs resulting from our miscarriage, she suspects it is highly unlikely that either my husband or I possess a translocation.  But, the genetic testing would definitively answer that question for us, and since more information is better than less, this is the reason my OB referred us for counseling even though this was "only" {I use that word begrudgingly here} our first loss.  I guess in many cases, due to either lack of insurance or lack of testable tissue samples, conclusive results are not often available for "first time" miscarriages.  I guess this means we should consider ourselves lucky that we have the opportunity to get more information about what caused our first loss?  I certainly don't feel that way.  I wish we we weren't in this position at all.  But I digress...

She sympathetically and astutely admitted that knowing the reason for the miscarriage or being tested ourselves wouldn't lessen the pain or sadness of our loss, and when she was done summarizing why we were sitting before her and how she could try to help us get information, she asked if we had any questions.  Of course the only question I could muster at that point was "May I have a tissue" since I was already crying, 5 minutes into the appointment.

Our counselor then summarized the lab report for us and explained that 20 cells were tested from our fetal tissue sample.

In 13 of the cells, there was a structural abnormality found known as a balanced Robertsonian Translocation of chromosomes 14 & 15.  A "translocation" is a form of structural abnormality where a portion of one chromosome is transferred to another chromosome.  There are two main types of translocations -- in a "Robertsonian" translocation, an entire chromosome has attached to another at the centromere.  Because this translocation was "balanced", all of the genetic information was present, but rearranged.

Source

Here is a good description if, like us, you're new to this topic {I've indicated with bold font the parts relevant to our fetal tissue results}:

Structural chromosomal anomalies consist of a defect in the structure of 1 or more chromosomes. Translocation is a type of structural abnormality in which parts of chromosomes end up in the wrong location.  Translocations may be reciprocal or Robertsonian. In a reciprocal translocation, pieces from 2 nonhomologous chromosomes have switched places with each other; in a Robertsonian translocation, 2 acrocentric chromosomes -- that is, chromosomes with essentially a single long arm rather than the more normally encountered long and short arms -- are fused together. The acrocentric chromosomes are 13, 14, 24, 15, 21, and 22. In a balanced structural chromosomal anomaly the amount of chromosomal material present is normal, but the configuration is abnormal. An individual carrying a balanced rearrangement would usually not have any phenotypic effect, except for the possibility of impaired fertility and reproduction. Structural chromosomal abnormalities occur in about 1 of 500 persons. These structural defects may be passed from parent to child; therefore, when a structural anomaly (balanced or unbalanced) is found in a fetus or in an individual, karyotype analysis of parents and possibly other relatives is indicated.

This explains why we were referred for karyotyping.  But, we did manage to have the wherewithal to ask the counselor whether Robertsonian translocations could be sporadic mutations (i.e., not inherited) and indeed they can be.  So, we're hoping that's what happened here and that we will not experience this abnormality in future pregnancies.  However, since all the proper genetic material is present in a balanced translocation, it would not cause a miscarriage.

***

In 7 of the cells, there was a numerical chromosomal abnormality found known as a "trisomy", which is the presence of extra chromosomes resulting from segregation errors during cell division.  In other words, there are three copies of a particular chromosome instead of the normal two.  In our case, our fetus had "Trisomy 14".  This is known as an "unbalanced" chromosomal arrangement because there is either too much or too little information present.  As with most trisomies and all unbalanced arrangements, this abnormality is not compatible with life.  Here is an example of what a trisomy looks like:

Source

The slightly reassuring news here is that numerical abnormalities are sporadic (i.e., not inherited), and they do not usually recur in subsequent pregnancies.  According to one source, "In the case of a numerical chromosomal anomaly in a fetus, parental chromosomes are usually normal, so karyotype analysis of the parents is not indicated. The recurrence risk for a chromosomal anomaly following the diagnosis of trisomy in a pregnancy is thought to be about 1%."  I hope this statistic holds true and we are not unlucky enough to experience this abnormality again in a future pregnancy.

***

After meeting with the counselor, we each had one vile of blood drawn and are now anxiously awaiting the results of the karyotyping, which should take approximately 2-4 weeks.

Please keep your fingers crossed for us...

Genetic Counseling

Since Tuesday's phone call, I've been trying to wrap my head around the idea of genetic counseling and testing.  Of course one of the first things I did after speaking with my husband is turn to a trusted online support group for help and information.  Luckily, I received some very good responses that helped me to stop assuming only worst-case scenarios (even if only momentarily), so I thought I'd share some of this helpful and wise advice:

Counseling

• Seeing a genetic counselor isn't the same as needing genetic testing. It's just talking with someone who knows more about this sort of thing than our OB, and can answer exactly the kinds of questions we have: What exactly was the genetic error in this case? How likely is it to happen again? What are the statistics for it being a random error? Should my husband and I be tested? 
• My OB might be required to send us to genetic counselor because we did tissue sample analysis of the miscarriage product and came back with a result indicating this abnormality.  (It may not necessarily be because we are in some path for persistent genetic defect.)
• Seeing a genetic counselor can be a good, reassuring experience because they can put things into perspective. (Seeing one doesn't always have to be a bad thing.)
• The genetic counselor will have had extensive training both in genetics and probability to really explain what is happening. There is a lot of genetics information on the internet but just enough to get one to the "shoulder of knowledge" where you know enough to scare yourself but not enough to fully understand the situation.
• Genetic counseling is not something to be afraid of.  Most doctors really do not know very much about genetics and genetic issues, but genetic counselors do!

Testing

• We'll need to decide if the information from the test would be useful to us. If we'd rather not know, or if we wouldn't do anything different based on the test results, then we might not want to get tested. If we would do something different, or if having the knowledge would help us even if we don't change any plans or actions, then we should get the testing done.
• With a translocation, it could be that the mutation happened in the embryo, or it could be that me or my husband have the mutation as well. Genetic testing can tell us which of those is the case.  If it turns out that neither of us has a translocation, then our odds are pretty much the same as average and we can proceed with future conceptions without a cloud of dread hanging over our heads.
• If the mutation did come from one of us, then any particular embryo could have about a 50-80% chance of having either too much or not enough genetic material. We'd still have a shot at a healthy pregnancy conceived on our own, but our risk of miscarriage or chromosome problems would be high. So, depending on the results of the genetic testing, we might decide to get IVF with pre-implantation genetic diagnosis, in order to attempt only getting implanted with embryos with good chromosomes. This would reduce any future miscarriage risk (but of course IVF has its own drawbacks).
• Just because we don't know of any inherited chromosomal abnormalities in our families doesn't mean they don't exist. The only way to know is to test, and knowing means that if we want to do prenatal testing for a future pregnancy we will know what to ask them to look for. (CVS/amnio does not test for "all" issues; only a handful of common ones are routinely tested unless there is reason to ask for specific additional testing.)

Bottom Line:  Step away from the internet searches for now, focus on meeting with a counselor and see what the testing results really say.

I'm still so sad and angry though that this happened in the first place.  Having to meet with the counselor makes it feel even more real when I'm having a hard time accepting what has happened.

I keep trying to remind myself that about 30% of known pregnancies end in miscarriage. While this was our first, it doesn't necessarily mean we won't ever go on to have a healthy baby.  Most miscarriages are due to a chromosomal abnormality and most are never even sent for genetic analysis, so we have information that many couples would not get, or wouldn't get unless they had several miscarriages.  I know I should be grateful for this information and the option to meet with a counselor after our first loss, but actually feeling that way is easier said than done.

Robertsonian Translocation

Yesterday afternoon my OB called to let me know that the labs from my miscarriage tissue are back and the results show a chromosomal abnormality called Robertsonian Translocation.  She also advised  my husband and I to meet with a genetic counselor, and that we may need to undergo genetic testing to see if we are "normal".

Immediately, I panicked.  Hearing the words "genetic counselor" scared the life out of me, and I called my husband in tears.  We both quickly did some Google searches, which caused only more fear and confusion for me.  I frantically checked baby blogs and message boards, searching for information and any bits of hope I could find.  I know it doesn't help to think of worst case scenarios but that's all that's been running through my head.  I'm petrified that I'll never have a successful pregnancy and desperate for info that points to the contrary.  The problem is, I don't even know what I'm looking for just yet.  There are apparently balanced and unbalanced translocations (I'm not sure which one was discovered in this case), and any prognosis about future pregnancies depends on whether my husband or I are carriers.  I am assuming this is why the counseling was recommended.

I guess it is possible that it was a random error, and I guess that's what I'm hoping for; however, the fact that my OB referred me for genetic counseling makes me nervous because when I initially brought the tissue sample in to be tested, the doctor said most times the chromosomal abnormalities are not indicative of any issue and testing is not typically needed until 2-3 miscarriages or over age 35. But this was my first miscarriage and I'm only 32?!  My OB did not get into details on the phone yesterday besides mentioning the presence of Robertsonian Translocation abnormality when she called, so I don't know if she has any additional information she didn't share with me that has caused enough concern for her to refer me to a genetic counselor for testing, or whether such a referral is routine for such abnormalities.

Although I am scared to death to find out whether the translocation was a random error during cell division or whether it was inherited (i.e., we are carriers) and therefore will affect any future pregnancies, I know I should want this information.  Knowledge is power, right?  The problem is... more information is not going to change the fact that I am desperate to get pregnant again and birth a healthy baby.  What if this wasn't a fluke and we are carriers?  What if we discover that our chance of having a healthy baby is low?  Is that something I will be able to handle emotionally?  Honestly, I'm not sure I can.

I feel like this is a never-ending nightmare that is only getting worse instead of better with time.

I know there is nothing I can do right now but wait to meet with the counselor, and see whether genetic testing is necessary, but the waiting is killing me (and it's only been a day).  For now, I am going to stop searching the internet and baby chat boards for info, and try to keep an open mind until we meet with the counselor next Thursday. I guess the best case scenario would be for this translocation to have been a fluke mutation during cell division and not genetically inherited from my husband or me, so I will hope and pray for that outcome.