Baby Kohr Chronicles

We are proud, yet completely heartbroken, to announce the arrival of our daughter, Grace Marie Kohr. Grace was born at 10:05 pm on Thursday, October 29, weighing 3 pounds. We were so grateful to be surrounded by our families for most of labor, and everyone had a chance to spend some time with Grace after her birth. She was not born alive, but she was born into a family full of love.

Shortly after she was born, we were lucky enough to have a photographer from Now I Lay Me Down to Sleep, a non-profit organization that provides free photography to families of stillborn babies, come in for a brief time to take some pictures. And then we had the Chaplain come by for a blessing with the whole family.

Labor and delivery went more quickly than we expected, and both went pretty smoothly. There were some slight complications after delivery because Kara lost a lot of blood. But the doctors had everything under control, and it didn't take long for her pulse and blood pressure to go back to normal levels. They kept her in the hospital until late in the day on Friday, just to make sure her blookwork and vitals were fine before being discharged.

Thank you all for your continued support and prayers. We cannot articulate how lucky we feel to have so many caring, supportive people in our lives. You all have truly been a huge source of strength for us over these last few months. Thank you all for everything!

We are not sure what will happen with the blog moving forward. More likely than not, we will take a break for a while. But feel free to check back every now and then. If there is anything worth posting we will put it out there.

Well, it looks like the waiting is coming to an end. We are scheduled to induce labor tomorrow, Oct. 29. We have a couple of appointments set up for tomorrow morning with our doctors, starting at 8:00 am. After we are done with them, we will be checking into Labor & Delivery.

The induction process can take anywhere from 12-36 hours, and last time it took about 23 hours. The doctors have said they have no way of predicting how long it will take, we just have to wait for the medication to work.

We are expecting to begin the process mid-to-late morning tomorrow, so we may deliver as early as tomorrow night. We are hoping that it will be more like Friday morning, though. Unfortunately, there is no chance that the baby will be alive when we deliver.

Thank you all again for all of the support and compassion you have shown us over the last few months. W3 are terribly disappointed in how this is ending, but we can't say that we are surprised at all. And, to the extent that we are able, we are relatively prepared for what is going to happen over the next couple of days. Please continue to pray for us- for strength for us and our doctors, and for peace for our baby. We absolutely hate that this is happening, but, unfortunately, we know from experience that the only way out of it is to go through it.

We will continue to keep you posted as we are able. We will definitely let you all know when our daughter is born. Thank you again for the love and support!

The results from today’s ultrasound were pretty similar to the last couple we have had. We still have a heartbeat, but, the hygroma is still quite large and there appears to be more fluid buildup in the baby’s body. We also learned that while we are about 25 weeks along, given all the extra fluid, she is measuring closer to 30 weeks. (Yes, she! For those who didn't know yet:-)) The bones and general development are a little behind the 25 weeks, but the size of the baby's body puts it around 30 weeks.

The doctors are now getting concerned for Kara’s ability to have a smooth delivery. The baby is currently in breech position and the doctors feel it is unlikely she will come out of that position. The doctors are also concerned about the size of the hygroma as well as the amount of the fluid. Both of these could potentially cause complications during the delivery- especially if the hygroma and fluid levels continue to increase in size. The doctors do not want to perform a C section on Kara because it presents more risk and could adversely impact future pregnancies. Given that the overall risk to Kara seems to be increasing each week, it is very likely that the doctors will induce and we will deliver very soon.

All of the doctors in the practice meet on Tuesdays to review all of their patients' cases, and our current situation will be discussed on Tuesday. Prior to today's appointment, there seemed to be some disparity among the doctors we have seen as to how risky our situation was and at what point it they would need to make some strong recommendations about how to proceed. Hopefully the meeting with all of the doctors will give them an opportunity to come to some sort of consensus. After that meeting, we will hear from one of the doctors about how the practice views our situation and what recommendation they have for next steps. Based on the information we have now, we are pretty sure that we have some tough decisions to make in the next couple of days.

Our next official appoinment is next Thursday for a blood pressure/heartbeat check and a consult with one of the doctors.

Thank you for keeping us in your thoughts and prayers. Please continue to do so- we will certainly need the support in the coming weeks. We will keep you posted as we learn more.

(Sorry for not getting around to that last post we promised. It was going to be about how we have gotten different opinions so far in terms of the risks involved in moving forward and with our delivery options. Now, that post doesn't seem so necessary anymore.)

Each year, approximately 26,000 babies are stillborn in the United States. Another 26,000 die within their first year of life. Close to one million more are miscarried.

In 1989, President Ronald Regan declared October as Pregnancy and Infant Loss Awareness Month. This has proven to be instrumental in bringing the needs of bereaved parents to the forefront.

Several years ago, October 15 was declared Pregnancy and Infant Loss Remembrance Day. On this day, parents, grandparents and friends around the country light candles at 7:00 pm in honor of babies who have died.

We will be lighting a candle tonight at 7:00 in honor and remembrance of Matthew, our firstborn, who, sadly, many of you never had a chance to know.

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Today's appointment was uneventful and quick (first time we have ever been in and out in under an hour!). Blood pressure is holding steady, and we heard the baby's heartbeat right away. It continues to pump away at a strong and healthy pace.

We were introduced to another one of the doctors in the practice. I think we have now met 5 of the 9 or so who practice there. We didn't have any real questions, so the meeting was brief.

On a little more exciting note, Kara has been feeling the baby move more lately. Kara was pretty sure we would still have a heartbeat today because she has been feeling the baby pretty regularly. At our last ultrasound, the technician said that the baby's head is near Kara's ribs on her right side, and that is where she feels the baby after she eats or if she sits a certain way and limits how much space the baby has to spread out.

We go back next Friday, the 23rd, for our next ultrasound. We previously mentioned wanting to give more information on some of the conversations we have had with the doctors lately- we will post an update with that info before our next appointment. Sorry- not meant to be a cliffhanger, but will need a little more time than we have right now to put all of that down in one place.

Please continue praying for us and for this baby to make a miraculous recovery. We are trying to remain as hopeful as we can, and every week we have a heartbeat only helps us stay more positive. Thank you for all of your support!!

Sorry for the late update today! We both took the day off, so it took longer for us to get to the blog than we would have hoped.

We still have a strong heartbeat. The cystic hygroma and hydrops are about the same as they were at our last ultrasound- significant and not good, but not any worse than we have previously seen.

Though this little one keeps on fighting, the prognosis remains the same. The doctors expect the baby to pass away at any time. They seem a little surprised each time we go in and there is still a strong heartbeat. For the first time, the growth seems to be lagging a little bit behind. Previous appointments have shown growth to be very average for gestational age. Today, the growth was only in the 29th percentile.

So, for now we continue to take it one week at a time. We are still holding out hope that we can beat all of the odds and somehow or other take a live, healthy baby home with us in a few months. While that is not likely, hoping and praying for that is helping us cope.

We had some conversations with the doctors about options that we will post about later. But for now, just wanted to get the most important part of the update out there. Thank you all for following and for thinking of us. We can't tell you how much we appreciate all of the support and prayers that everyone is sending our way. Thank you!!

Nothing new to report after this morning's appointment, so I guess it went well. We still have a normal heartbeat, and blood pressure looks good. We go back next Friday for another ultrasound. We will keep you posted!

Please keep praying for us and the baby. We can use all of the prayers and positive thoughts we can get:-) Thank you all for hanging in there with us and being so supportive! It would be much harder to get through this without all of the support and encouragement that we have gotten from so many people. Thank you all so much!!

Our appointment this morning was pretty uneventful. There hasn't been much of a change since the last ultrasound 2 weeks ago. The baby still has a heartbeat in the normal range, and continues to grow at pace for gestational age. The cystic hygroma and fluid look to be about the same size as they were 2 weeks ago. The doctors' expectations for this pregnancy have not changed- the prognosis is still not good, and they think it is likely that the baby will not survive more than another couple of weeks.

They will be keeping an eye on Kara to make sure there are no increased risks. And if, at any point, they feel she is at risk, they will urge us to deliver right away. She is scheduled to go in on a weekly basis for blood pressure checks, where they can also check the baby's heartbeat. We will probably go back 2 weeks from now for another ultrasound to check on the baby, but the doctor left that up to us to decide how frequently we would like to continue doing those.

It is getting increasingly difficult to stay positive and hopeful about how this may turn out. Our expectations have been set appropriately by the doctors, and we have done enough research to know that our chances of a positive outcome are very slim. But then again, the odds of this happening to in consecutive pregnancies were very slim as well, so the odds don't do much for us either way. But, we are still trying very hard to be hopeful, and praying for a miracle. Even if it is unlikely, it is still possible.

Thank you all for being so supportive. Please keep us and the baby in your prayers. We will continue to update as we have appointments and as we learn anything new.

Warning- kind of a long post ...

We spoke to the genetic counselor again this morning because the CGH analysis is complete. The results, while good, are a bit ambiguous.

(CGH microarray looks for additions or deletions to each specific chromosome. If a chromosome has more or less than it should, it will show up in this test. The test will not, however, show if there is a translocation or inversion. That is, if a piece of a chromosome breaks off and flips over before sliding back into its original place. Or, if 2 pieces of a chromosome break off and trade places. In both cases, the chromosome would appear to be the right size, but the genetic material is flipped around.

CGH is typically used prenatally to determine if the baby has a specific genetic condition whose location is known. Or, it is used to test the parents to see if they are carriers for a specific condition. For example, if you test a baby for Tay Sachs Disease, the geneticist knows exactly where to look for that information- which gene to analyze and what it will look like of it the baby is affected.)

Because we are not looking for any specific condition, the whole picture was analyzed. There appears to be a small piece of the baby's chromosome 16 that is duplicated. Based on the location of the duplication and the specific material that is duplicated, there is no known affliction that they can say the baby has.

The geneticist also has our blood samples to use as a comparison. So, when they found this duplication, they automatically compared it to our chromosome 16's to see if either of us may have passed this duplication on to the baby. Turns out, Matt has an identical duplication on his chromosome 16.

Because Matt is a normal, healthy person, they are pretty certain that the duplication is not causing the baby's issues. Duplications such as this are not uncommon, and 99% of the time they are not of concern.

There is a threshold by which they measure such things to determine if the duplication of clinical significance. If the duplicated area is small enough, and a parent has clearly passed on the duplication, they will say that the duplication is clinically insignificant. The duplicated area in this case is a little too large for them to say that it is clinically insignificant. However, the duplicated area in the baby is the exact same size as that in Matt's DNA, so we have every reason to believe that it is, truly, insignificant.

At the end of the day, we really have very little new information. They have successfully ruled out many known conditions based on the testing we have done, many of which have no known association with the problems that the baby has. It appears as if the most likely explanation is that we are both recessive carriers of something that causes cystic hygromas. Because we cannot pinpoint where that recessive gene is, we will most likely not be able to test for it in future pregnancies. However, in an attempt to be proactive where we can, we are most likely going to bank some of the amniotic fluid from this pregnancy so we have a sample moving forward that we can compare future pregnancies against if we come across this again. Hopefully, in the event that we need the old sample, technology will have advanced enough that we be able to test for more things that we are currently not able to detect.

There is one more test they may still run, the uniparental disomy test that was discussed when we had the amnio performed. This goes back to the concern of mosaic trisomy 15 when our CVS results were inconclusive. There is still a chance that the baby's chromosome 15 is not representative of both of our DNA (and both chromosomes came from the same person). The genetic counselor is pretty certain that this isn't what is going on, but we can have them run the test if we would like to rule that out as well. We are still on fence on that one...

We are still praying for a miracle and hoping things can turn around. And most of the time it is encouraging to know that they haven't discovered anything that points to a definitive risk or condition that can be passed down. However, it continues to be really frustrating and disappointing that the tests keep indicating an otherwise healthy, normal baby. There are a couple (literally single digits) of documented cases where cystic hygromas and hydrops have resolved up until about 30 weeks. So, as long as there is a heartbeat, we will be hoping and praying that we can add another to the literature. Please keep praying that this baby can overcome the odds.

Thank you all for your thoughts and prayers! We will keep you posted as we learn more.

We had a level II ultrasound this morning. For a normal pregnancy, they do this between 18 & 22 weeks and determine that the anatomy is all developing correctly, etc. For most expectant parents, it is a fun appointment where they can relax and watch for 30-45 minutes as they take lots of pictures and measurements.

As soon as the ultrasound technician had her first look, she immediately told us we still have a heartbeat. We both let out a sigh of relief and were able to sit back and watch as she took measurements and checked everything out. The heartbeat was normal, and the growth measurements are all on track for gestational age (18.5 weeks). She pointed out the 4 chambers of the heart, the kidneys, a full bladder (the baby's- not mine), the brain, etc. She also pointed out the large cystic hygroma (which is hard to miss, so we already knew where it was), and she noted that there is definitely fluid around the lungs and in the abdomen. There is also quite a bit of swelling between the baby's skin and the baby's body (different from the fluid inside of the abdomen). So, while the growth measurements were on track, it was clear that we were still dealing with lots of problems.

Then the doctor came in to see us and he took a look via ultrasound. He said that the situation is definitely progressing and getting worse. He poked around on the ultrasound and tried to get some different views of the heart, and he pointed out different areas of fluid that he wasn't sure we were aware of.

When we were done with the ultrasound, he brought us into a room to discuss the situation and ask questions. He re-iterated a lot of what we already know- how rare this is to have it happen in two consecutive pregnancies, how we may not be able to find out the underlying cause, how the prognosis is very grim, etc. He did talk a bit more about risks to Kara's health as the hydrops gets worse. (This is the mirror syndrome the other doctor discussed with us early on.) So they will be monitoring Kara on a weekly basis for signs of pre-eclampsia moving forward.

We go in next week for a blood pressure check (today's BP was fine), and then we will go in a week after that for another ultrasound to see if things are progressing. At this point, the doctor is pretty confident that the baby will not survive more than 2-4 more weeks, given what was seen in today's ultrasound.

We are still trying very hard to hold onto some hope that this can still turn around. As long as we have a heartbeat and Kara is not in any danger, we will be holding out for a miracle. But, we also know that we have to prepare ourselves for what we will likely have to endure in the next few weeks.

Please continue praying for us. We certainly need all of the prayers and positive thoughts we can get at this point. We will continue to update as we get new information. We hope to have new test results some time next week that we will definitely share. Thank you to everyone for all of your well wishes and support! We are trying to hang in there as best we can. And we certainly could not get through this without everyone's support. Thank you!

We got the call today with the amnio results, and everything is normal! There are no signs of Trisomy 15, mosaic or otherwise. From a big picture perspective, this is good news. We still have plenty to worry about, but this is one hurdle along the way that we can say we have successfully cleared.

Now we wait until Friday for our next ultrasound to see how things look in there. And we continue to wait for our other test results.

The CGH analysis should be complete in the next week or so. The genetic counselor tried to rush those through, but that didn't work out. They have to let the cells grow and divide for so long before they can figure out what is going on there, so that takes longer than the amnio. The CGH is looking for any additions or deletions to the baby's chromosomes. If there are none, then that will be another hurdle cleared. While the CGH may not be able to tell us what is causing the cystic hygromas, it will at least help us eliminate what is not causing them.

There is still a chance that we are looking at a uniparental disomy- where the baby has 2 chromosome 15's from one parent or the other. But, according to the genetic counselor, the odds of that are so very slim that they will do that test once they have completed the other and ruled other things out.

Even if all of the testing continues to come back normal, we still have to worry about the cystic hygroma and the hydrops. But, at this point, we will take every small victory along the way that we can get. And every good test result we get along the way increases the baby's chances of being healthy and compatible with life if we do overcome the cystic hygroma and hydrops.

Please keep praying for us and for this baby. And thank you all so much for all you have done for us so far. We will update again on Friday after our appointment.

Our ultrasound today showed that the cystic hygroma is still large, and not getting any smaller. (Hard to tell if it was any bigger, though...) There was definitely fluid around the lungs and some swelling, so that isn't very good news. However, the heartbeat is still strong.

The doctor is not optimistic that the baby will survive beyond 18-22 weeks, so we are still in a holding pattern; praying for a miracle, hoping for the best, but aware of the prognosis and prepared for the worst.

Because the results from the CVS test were inconclusive, we had to have an amnio performed to obtain the karyotyping that we were originally looking to obtain.

(Amniocentesis is a procedure performed during pregnancy to examine a baby's chromosomes. Most often, an amniocentesis is done between 16-20 weeks of pregnancy. During this procedure, amniotic fluid is removed, using a hypodermic needle, for testing. The amniotic fluid contains cells that the baby has naturally shed. Cells and proteins within the amniotic fluid are examined in the lab to test for specific fetal disorders.)

The amnio went well, and was much less painful than the CVS a few weeks ago. They had to draw more fluid than they would for a typical amnio because we are having more than one test performed on the samples. We are having the standard chromosome analysis done, which will tell us (hopefully) that the number of chromosomes is correct and that they are, generally, in good shape.

Because the CVS indicates mosaic trisomy 15, they will look specifically at chromosome 15 to see of there is any evidence of 3 copies of it. Normally, they would sample about 50 cells to ascertain this information. But, a mosaicism can be present in only some areas, so they will test a larger number of cells to determine with more authority if it is, indeed, present in some or all cells. (Note- the test is not exact. There is no way to test all of the cells, so they choose a number and sample what they feel will be representative of the baby.)

They will also use the amnio sample to test for an UPD, uniparental disomy. Trisomy 15 is very rare, particularly this far along in pregnancy, so there is concern that if there is any Trisomy 15 detected that it could be due to an uniparental disomy. This is when a baby inherits one chromosome 15 from one parent and two chromosome 15's from the other parent. The cells recognize that there are too many 15's, so they cancel one out in order to be left with two, the appropriate number. In some cases, that can leave the baby with two sets of chromosome 15 from the same parent, which is uniparental disomy. There is a specific name for this if chromosome 15 comes from the father or mother. They will test the baby's chromosome 15 against each of our chromosome 15's to see if what the baby has is "normal."

The other DNA test they will perform is called CGH, comparative genomic hybridization. This will analyze the baby's DNA more closely to see if anything is has been deleted or added to a specific chromosome. This is how they typically test people for being carriers of commonly known genetic illnesses, such as Sickle Cell Anemia or Tay-Sachs Disease. This will allow them to diagnose the baby with any genetic illness that is already known and identifiable. This will not, however, allow them to tell us about things that are not known yet. For example, if we are both recessive carriers of something that causes cystic hygromas, they can only detect it if that illness is linked to a specific gene/chromosome. Because the genetic counselors are unaware of any specific genetic illness that causes cystic hygromas, it is likely that we will not find anything conclusive with the CGH analysis. But, to make sure we leave no stone unturned, we have opted to pursue it.

All of these test results (amnio, UPD and CGH) should be available in about two weeks. We go back for another ultrasound on Sept. 11 to see how the baby is doing and assess the prognosis once again. We are still praying that things can turn around and the baby can recover from this. While we know it is a long shot, we are not ready to give up.

Thank you all again for the positive thoughts, prayers and support! We are so grateful to everyone for all you are doing to help us through this. We will keep you posted.

Today's appt did not go very well. The cystic hygroma has increased in size over the past 2 weeks, and is now affecting more than the back of the baby's neck. The ultrasound technician also saw some fluid around the lungs. The doctor wasn't particularly impressed by the presence of a little bit of fluid around the lungs, but he said given the growth of the cystic hygroma, he would now consider us pre-hyrdropic. Given the size of the hygroma, the doctor is not very optimistic that it can resolve on its own or that this will end well.

Because of the results of the CVS, we are scheduled to go back in a little less than two weeks for an amnio. They do not schedule level II ultrasounds on that day, but the amnio has to be done under ultrasound guidance so we will get another look at the baby that way. Regardless of the health of the baby at that time we will be pursuing further testing (amnio and a couple other tests) to try to shed some light on what may be causing the cystic hygroma. We need to determine is the baby has mosaic Trisomy 15, and if not, if there is some other chromosomal abnormality that can be found.

The genetic counselor we met with today does not seem to think the mosaic Trisomy 15 is in play here- apparently it just isn't adding up right for her, so she is skeptical. But they need to rule it out. It seems more likely that we are each recessive carriers of some genetic issue that causes cystic hygromas. Whether or not they will be able to pinpoint that issue is up in the air, and we are not entirely optimistic that they will find the ultimate issue. Unless they know what they are looking for (i.e. specific condition or issue with a specific gene/chromosome) there is no way to test for everything. If we are recessive carriers of something that causes this, we have a 25% chance of this happening in any given pregnancy.

As far as how we proceed, we are inclined to let nature take its course as long as there is no threat posed to Kara's health, which, at this point, there is not. Even though the prognosis is rather bleak, we are trying to entertain the possibility that things can still turn around. In the event that this pregnancy ends, how we deal with it, medically, will depend on how far along we are.

We will continue to keep everyone posted as we get new information. In the meantime, please continue praying that the cystic hygroma will suddenly go away and we have a shot at a healthy baby. Thanks again for all your support and positive thoughts and prayers!!

the results are inconclusive because of a mosaicism. Apparently, about 1% of the time, CVS results will return a mosaicism. This means that some of the cells in the culture have one chromosome arrangement and some of the cells have a different chromosome arrangement. In our case, specifically, 65% of the cells were normal and 35% of the cells presented with Trisomy 15 (three copies, not the normal two, of chromosome 15).

The good news is, according to the genetic counselor, about 90% of the time when there is a mosaicism the abnormal cells are from the placenta and not from the baby. The not as good news is they are more concerned than they would normally be because the cystic hygroma is present in addition to the mosaicism. However, to further confuse things, Trisomy 15 is not typically associated with the presence of a cystic hygroma.

I was a bit confused by all of this because I thought they were specifically testing a sample of the placenta, so to hear that they are distinguishing the cells from the placenta vs. the baby did not make sense. The genetic counselor explained that in fetal development, there is a specific point in time where the placental tissue and the embryonic tissue split, and each becomes an individual entity with its own cells dividing and each growing separately. Because they test the tissue from the placenta, and not from the baby, specifically, they have no way of knowing if the abnormal cells began appearing and began dividing before or after the placenta and the baby split from one another. So, in the 90% of the time where the abnormal cells are from the placenta, it is due to the cells not presenting and dividing until after the placenta and the baby are separate entities.

What does this mean?

Well...we won't know if we are carrying a baby with Trisomy 15 until we can do further testing. The genetic counselor is recommending that we do an amniocentesis, which will give us a more clear idea as to what is going on with the DNA. An amnio cannot be performed until we are 15 weeks, so we are a little early for that right now.

In the event that there is Trisomy 15, it is most likely mosaic Trisomy 15, which means it is not present in all of the cells. The extent to which that can be problematic depends on how many of the cells are affected and in which parts of the body they are located. If it was full-blown Trisomy 15, it is unlikely we would have made it to 14 weeks along because those pregnancies typically result in early miscarriage.

Regardless of whether or not Trisomy 15 (mosaic or otherwise) is determined to affect the baby, the cystic hygroma is still being treated as a separate issue, just possibly related. The genetic testing, which was supposed to help shed light on what caused the cystic hygroma, seems to have only made things more unclear...at least for the time being.

We are still scheduled for an ultrasound and to meet with the High Risk OB on Thursday. We were originally scheduled for some additional genetic testing, but that is on hold until we decide about the amnio and until we can actually have the amnio performed. (The other testing they were planning on doing was supposed to use the CVS samples, which we know will not provide results that we can rely on.) We are still hoping to hear on Thursday that the cystic hygroma has either diminished in size or gone away completely; anything but that it has grown in size or that there is evidence of fluid retention, edema or hydrops.

We will also be meeting with the genetic counselor again on Thursday to further discuss the test results we have gotten so far and other testing that should be considered moving forward.

In terms of expectations, we are still hopeful that things can turn out alright. Though, given our experience, we are also realistic about the possibilities. One of the toughest things to swallow, especially given all of the crazy testing we are doing, is that everything tested normal (DNA, autopsy, etc.) with our first pregnancy. So, while we continue to hope and pray that our test results come back normal, we know that there is no guarantee there either.

We will continue to post updates as we have additional information. Talk to you all soon!

We got the call this afternoon with the FISH results. And, so far, everything is testing normal:-) This means that the baby does not have Trisomy 13, 18 or 21 (Down Syndrome). This also means that the baby has the right number of chromosomes: 46. This does not guarantee that there isn't a chromosomal or genetic abnormality, it simpy rules out some of the most predominant ones, and a couple that are most frequently associated with cystic hygroma.

So, no we wait until we get the full DNA analysis back, and we wait for our next ultrasound. I am sure the next 2 weeks will be wrought with anxiety as we wait, but we are grateful that the first set of results came back in our favor. Keep saying tholse prayers!! And thank you for all of the support so far- we are lucky to have the support of so many family and friends.

I also thought it would be helpful to share some of the main points that we discussed with the doctor when we had an opportunity to ask some questions:


- In his experience, the doctor feels that the majority of cystic hygromas resolve on their own. He
said he understands it would easy to let ourselves be discouraged and go down the path of what
happened last time, but he doesn’t want us to jump to any premature conclusions because it is
still early

- Doctor explained that cystic hygromas normally develop in one of 2 situations:
- Thoracic duct does not develop to manage fluid between the lymphatic system and venous
system so fluid builds up at back of neck. There is still a possibility that the duct will develop
and the cystic hygroma will resolve
- The heart forms abnormally and throws off the pressure and flow of fluids in the body and
fluid collects at back of neck

- There is nothing that we did to cause this, and there is nothing we can do to try to prevent it from
growing, getting worse- drugs, dietary changes, etc.

- There really isn’t any treatment available in-utero; any possibilities are invasive and pose more
of a threat to the baby than doing nothing

- Currently the heartbeat is normal and there is no sign of hydrops. The doctor would expect that
to develop by 18-20 weeks and will indicate heart failure is imminent. Until then, we will monitor
via ultrasound.

- If the cystic hygroma looks to be resolving on its own, we will still need close monitoring and a
fetal echocardiogram around 20 weeks to confirm that there are no major heart defects. If that
looks good, he would likely consider us “normal” again, but would still recommend being more
closely monitored by ultrasound to be safe.

- Doctor does not think that this is linked at all to my recent diagnosis of a single MTHFR mutation
(the blood clotting thing that prevents the absorption of folate and B vitamins)

- He also does not think it is related to our Unexplained Secondary Infertility

- The only risks that the pregnancy pose to Kara at this time are pretty rare
and unlikely:
- Mirror syndrome- if the baby gets hydrops, in very rare cases the mother will mirror those
symptoms
- Risks associated with C-section if baby gets hydrops that are very extreme and has to be
delivered by C-section

We met with the High Risk Team today in Evanston. The appointment lasted about three and half hours. First, we had a level II ultrasound to confirm the presence of a cystic hygroma. The ultrasound technician did so, and it measures from 7-9 mm. (A "normal" fetus will have some fluid at the back of the neck, but that measurement should be no more than 3.5 mm.)

After that, we met with a Genetic Counselor. She reviewed the paperwork from our first pregnancy (chromosome analysis, autopsy report, etc.), our medical histories, family medical histories, etc. Nothing seemed to indicate to her that there was any specific reason why we now have 2 pregnancies in a row with cystic hygromas.

We then met with the doctor, who performed the CVS test almost immediately. Due to the location of the placenta, he had to pass a needle through my abdomen to gather the placental tissue that needs to be evaluated. The test was pretty unpleasant (and Matt was a funny shade of green:-)), but it was over quickly and they showed us the baby's heartbeat as soon as it was over to assure us that everything was ok.

We should have the initial FISH results back on Monday, which will tell us the sex of the baby and if the baby has Trisomy 13, 18, 21, or any abnormality associated with the sex chromosomes (ie- a female with only one X chromosome). The full DNA analysis/karyotyping will take about 2 weeks.

We have an appointment in 2 weeks on August 13 to see if the cystic hygroma has grown, decreased in size, stayed the same, etc. and to confirm that the baby is still in decent health otherwise. At this time, there is no evidence of fluid in other areas of the body, and hydrops is not present. We are hoping that that continues to be the case.

CVS (Chorionic Villus Sampling) is a technique that is offered for prenatal diagnosis of chromosomal abnormalities associated with advanced maternal age or fetuses that have abnormalities, and can also diagnose certain other genetic diseases. CVS cannot be used to assess the risk for neural tube defects. CVS is performed between 10-13 weeks of pregnancy. During the procedure, a small sample of the placenta, called the chorion, is removed under ultrasound guidance. The main advantage of CVS over amniocentesis (amnio- an alternative to CVS) is that prenatal diagnosis is achieved during the first trimester.

Prior to the procedure, we will have the opportunity to meet with a genetic counselor to review family history, discuss the procedure and ask questions. After genetic counseling, an ultrasound will be performed to determine the location of the fetus, confirm gestational age and locate the placenta. If the placenta is posterior (at the bottom portion of the uterus), a catheter is passed through the cervical opening under ultrasound guidance. The tip of the catheter is directed toward the placenta and a small sample is removed. If the placenta is anterior or fundal (at the top of the uterus), a needle will be passed through the maternal abdomen and uterus into the placental substance, also under ultrasound guidance. Samples are forwarded to the cytogenetics laboratory for processing and diagnosis.

Full results of the CVS are typically available 1-2 weeks after the CVS is performed. However, a FISH (flourescence in-situ hybridization) test will screen for gender and Trisomies 13, 18 and 21, and those results are typically available in 24-72 hours.

A cystic hygroma is a fluid-filled sac that results from a blockage in the lymphatic system. The lymphatic system is a network of vessels that maintains fluids in the blood, as well as transports fats and immune system cells. Cystic hygromas are thought to arise from failure of the lymphatic system to communicate with the venous system in the neck. Cystic hygromas are single or multiple cysts found mostly in the neck region. A cystic hygroma in a developing baby can progress to hydrops (an excess amount of fluid in the body) and eventually fetal death.

Cystic hygromas occur in approximately 1% of fetuses between weeks 9 and 16 of pregnancy.

The majority of prenatally diagnosed cystic hygromas are associated with one of the following: Turner Syndrome (Monosomy X- an abnormality where a female has only one X chromosome, not two), Trisomy 13, Trisomy 18 (Edward's Syndrome), Trisomy 21 (Down Syndrome) and Noonan Syndrome. For a baby with no known genetic or chromosomal abnormality, a cystic hygroma may be caused by a birth defect (heart defect, digestive system defect, musculo-skeletal defect, etc.). In some situations, a cystic hygroma can be present in a healthy baby.

Overall, there is generally a poor prognosis associated with fetal cystic hygromas. In cases where genetic or chromosomal abnormalities were not present, there is research to indicate that a cystic hygroma may resolve on its own. In cases where a cystic hygroma did not resolve on its own by 20 weeks gestation, the outcome was generally poor. Hydrops (retaining of fluids in the body) results from vascular damage and high output heart failure. Hydrops occurs up to 75% of the time with a cystic hygroma and is almost always associated with miscarriage or fetal death.

Recurrence of fetal cystic hygroma in subsequent pregnancies is extremely rare. I have only found around 20 documented cases that have been published in medical research. While it is possible that it can happen by chance and be caused by completely unrelated events, it is unlikely. There is literature to suggest that recurrence can be the result of a familial inheritance pattern, most likely an autosomal recessive gene.