We Passed the Test

Drum roll please........

The Harmony Test came back negative.

It's All About the Genes

Today was our visit to the Genetic Counselor.  Please refer to the "Family History and Genetics" page for more information on who Genetic Counselors are and what they do.

Due to our unique situation there were three of us at this appointment - me, Mark and our GC.  Really only Mark and I needed to be there - it is our history and our genes that are in question.  But, our GC needed to get the referral and make the appointment since it is her pregnancy.  In the end, it good that she was there since we discussed screening and testing options and since she is impacted by our decisions regarding these it is good for her to also understand the risks.

I would never ask our GC to do something that I would not myself do.

We went through our family history and what our risks are.  Unfortunately, chromosomal abnormalities increase with age.  By the age of 40 the risk of a child being born with some sort of genetic abnormality is as high as 1/38.

Our family history can help predict which abnormalities we may carry and pass on.  For example, since Mark and I are both of Northern European descent, we are more likely to be carriers of Cystic Fibrosis.

Carrier screening can be done to tell for sure if you are a carrier of a specific disorder.  Most disorders are recessive meaning that both you and your partner both need to be carriers for a particular disease to present itself.  And even if you both are carriers, you may not pass on that disorder to your child.

Mark and I had not had carrier screening done.  We had asked our RE about it before our first IVF and he did not recommend it.  His logic was that everyone is a carrier for something.  Everyone.  And sometimes people make decisions about even having children based on these tests.  Again, being a carrier does not automatically mean that you will pass a disorder to your child.

Luckily we are early enough into the pregnancy that carrier screening can still make a difference on our prenatal testing choices, so we headed to the lab for a blood test right after our consultation.

Unfortunately, we did not have PGD or PGS testing (see Embryo Testing in IVF page for more info)  done on our embryos, so we do not know definitively that Maybe Baby is chromosomally normal.  We did not do PGD testing since we had not done carrier testing and did not know which specific genetic disorders to test for.  We also did not do PGD testing and additionally PGS testing since this needs to be done on day 5 blastocysts and we were not sure that we would end up with any day 5 blastocysts to test.  Maybe Baby was a day 5 morula and previously frozen, so testing was not recommended.

Our counselor went through our screening and diagnostic testing options.

As I have mentioned before, I like the idea of diagnostic testing.  It is definitive while screening is not.  It also carries risks.

I have been talked off the CVS ledge and am now leaning towards amniocentesis.  

Amniocentesis is a prenatal test that allows your healthcare practitioner to gather information about your baby's health from a sample of your amniotic fluid - the fluid that surrounds your baby in the uterus.  Amniocentesis produces a karyotype – a picture of your baby's chromosomes – so that your caregiver can see for sure if there are problems.  It is more than a 99% accurate test.
 
Amniocentesis carries various risks, including:

• Miscarriage. Second-trimester amniocentesis carries a slight risk of miscarriage — between 1 in 300 and 1 in 500. Research suggests that the risk of miscarriage is higher for amniocentesis done before 15 weeks of pregnancy.  Our counselor indicated that the risk goes down significantly for practitioners that perform this test regularly and that this clinics risk rates were as low as 1 in 1500.
• Needle injury. During amniocentesis the baby might move an arm or leg into the path of the needle. Serious needle injuries are rare.
• Leaking amniotic fluid. Rarely, amniotic fluid leaks through the vagina after amniocentesis. If the leak seals, the pregnancy is likely to proceed normally. It's possible, however, for chronic leakage to lead to orthopedic problems for the baby.
• Rh sensitization. Rarely, amniocentesis might cause the baby's blood cells to enter the mother's bloodstream. If you have Rh negative blood, you'll be given a drug called Rh immunoglobulin after amniocentesis to prevent you from producing antibodies against your baby's blood cells.
• Infection. Rarely, amniocentesis might trigger a uterine infection.
• Infection transmission. If you have an infection — such as hepatitis C, toxoplasmosis or human immunodeficiency virus — the infection might be transferred to your baby during amniocentesis.

Since our GC does not have any diseases to transmit (per testing), is RH positive to the RH factor risk is not there, infection can be easily treated with antibiotics, needle injury is rare as is leaking amniotic fluid and the risk of miscarriage at our clinic is as low as 1 in 1500, I still think that the benefits of amniocentesis outweigh the risks.

However, I have listened to our Genetic Counselor and Mark on utilizing noninvasive screening tests first.

We had the Harmony test done which is a simple blood test (of our GC's blood) that screens for the most common chromosomal disorders - 99%, but not all, of the fetuses with trisomy 21 (aka Downs Syndrome), 97% of fetuses with trisomy 18 and 92% of fetuses with trisomy 13.  The Harmony test also tests for gender and sex chromosome related disorders. The Harmony test does not provide information on other rare chromosomal abnormalities.  The Harmony test also does not provide information on physical defects, such as heart or brain abnormalities and spina bifida, or fetal growth.

It is therefore advisable that you still have ultrasound scans to screen for other potential defects - a scan at 11-13 weeks and at 18-22 weeks to examine the fetal anatomy and at 30-32 weeks to examine the fetal growth. 

Additionally, it is also advisable to also have a quad screen — also known as the quadruple marker test or simply the quad test — at 15 to 20 weeks of pregnancy  This test measures levels of four substances in a pregnant woman's blood: Alpha-fetoprotein (AFP), a protein made by the developing baby, Human chorionic gonadotropin (HCG), a hormone made by the placenta, Estriol, a hormone made by the placenta and the baby's liver, and Inhibin A, another hormone made by the placenta

Results of the quad screen indicate your risk of carrying a baby who has certain chromosomal conditions, such as Down syndrome, and can help detect neural tube defects, such as spina bifida.


We are scheduled for our 11-13 week scan next week.  This is the Nuchal Translucency Screening Test which screens for major defects, such as exomphalos, holoprosencephaly, heart abnormalities or megacysis, and some other rare chromosomal defects.  It uses ultrasound to measure the thickness of the fluid buildup at the back of the developing baby's neck. If this area is thicker than normal (more than 3.5 mm), it can be an early sign of major defects and further testing such as a CVS or amniocentesis may be recommended for actual diagnosis.

This test is noninvasive and basically just like a regular ultrasound.  The major difference is that it must be done by a specially trained ultrasound technologist, radiologist or obstetrician who has received special training to do this test.  Basically that you will probably need to go to a different clinic than your regular OBGYN.

We are then looking to do the quad screen at 15 weeks, another noninvasive test.  Our genetic counselor said that actually we don't need to do the full quad screen since we did the harmony test and parts of the quad screen would be duplicative.

We are then looking to do the anatomy scan at 18 weeks.

We will tentatively schedule an amniocentesis for 19 weeks, which will only be performed if an issue arises at one of our earlier tests.  Otherwise, we may be chancing risk that we would otherwise not need to undertake.

I think that this is a good plan as it utilizes as much noninvasive testing as possible. 

Each hurdle that we clear and test result that comes back good starts to make me more and more confident that Maybe Baby with become a real baby someday.

Right now is still early and we have a lot of tests to do, so I am staying only cautiously optimistic at this point.

OK at 9w4d

 

Today was our first prenatal visit.  I admit that I was very nervous.  Up to this point everything was with our infertility clinic - a familiar environment for me.  Now we were venturing into uncharted territory.....

Luckily our GC has had two successful pregnancies of  her own and has an OBGYN that she really likes.  She had talked to her doctor while we were still in the exploration phase this spring to make sure that her OBGYN and her OBGYNs staff would be comfortable and supportive of a surrogate pregnancy.  

This is actually a very important step in the exploration process.  The lawyer that we used for the GC contract actually runs an agency.  He was extremely helpful in offering advice along the way that we would not have thought of or known to ask.  One of the things that he recommended was to make sure that the OBGYN was comfortable with this special arrangement.  Unfortunately he has run into a doctor or two along the way that had some strong biases and added some extra stress to an already stressful situation.

Everyone was really nice and was very supportive of our situation.  

It is strange situation.  There is the pregnancy and health history of our GC, but also my and Mark's history that all needs to be incorporated.  While our GC's history is hopefully indicative of how this pregnancy will go (I say hopefully because each pregnancy is different, and our GC is now over 35 which carries extra health risks), my and Mark's history is indicative of the health of the baby and potential of birth defects.

There is the important phrase - birth defects.

Because our GC has a very healthy and normal uterus, I have not been scared of miscarriage due to structural issues.  I have, however, been very scared of miscarriage due to chromosomal issues.  Or, even worse, having to make a tough decision due to chromosomal issues (not all severe birth defects lead to miscarriage or stillbirth).

I admit that this fear is probably higher than it should be.  Our risk factor of birth defects is only around 2% and our miscarriage risk is around 15% (birth defects could be a contributing factor to this risk).  Each week that passes decreases our miscarriage risk.  Now we need to look into how to assess our birth defect risk.

I am all about doing as much testing as possible as early as possible to assess our birth defect risk.  Probably to a fault.  I am ready to go right to diagnostic tests vs. screening tests.

http://www.webmd.com/baby/tc/birth-defects-testing-what-are-the-tests

Birth Defects Testing - Types of Tests

You and your doctor can choose from several tests. What you choose depends on your wishes, where you are in your pregnancy, your family health history, and what tests are available in your area. You may have no tests, one test, or several tests.

Screening tests show the chance that a baby has a certain birth defect. Diagnostic tests show if a baby has a certain birth defect.

Screening tests	When they are usually done
First-trimester screening (first part of integrated screening)	10 to 13 weeks
Nuchal translucency (usually done as part of the first-trimester screening)	11 to 14 weeks
Cell free fetal DNA (an option for women at higher risk)	10 weeks or later
Triple or quad screening (second part of integrated screening)	15 to 20 weeks
Ultrasound (pictures of baby's body)	18 to 20 weeks

Diagnostic tests	When they are usually done
Chorionic villus sampling (CVS)	10 to 12 weeks
Amniocentesis	15 to 20 weeks

Screening tests have little to no risk, but they also only indicate if there is a chance of a birth defect.  Diagnostic tests have risks - miscarriage being the biggest risk - but they also show for sure that there is actually a birth defect.

Going into this appointment I am pretty much convinced that I want to do CVS so that we definitely know if we have birth defect, and would find out in the first trimester.  If we do need to make a tough decision, the earlier that decision can be made the better for all parties involved.

Thankfully our OBGYN is pretty awesome, immediately senses that I am stressed beyond belief and talks through my fears on the issue.  I acquiesce to her expertise that the CVS is very risky and that we can do other noninvasive tests first.  She also recommends a genetic counselor visit to discuss our risks and discuss further screening.

Now that we are past that it is finally time to hear the heartbeat.  I really need this reassurance that there is still a heartbeat.  I am really bummed that she attempts it via doppler.  I want an ultrasound!  I want to see for myself that Maybe Baby is still there, and is developing on track.

Well, nothing is happening.  There is no heartbeat.  We are all getting very, very tense.

Our OBGYN explains that we are still a little early to hear the heartbeat via doppler and we proceed to the ultrasound room.

Not only is Maybe Baby still there, Maybe has a very normal heartbeat, and has little arm and leg buds like Maybe is supposed to at this time (the "gummy bear phase" as my friend likes to call it).  Maybe was even moving around!

Phew.  Huge sigh of relief.

A Birthday Weekend Away

I kept bugging Mark about what he was planning for my birthday and he kept not really saying anything.  So, I decided that since he wasn't really doing anything I would like to go to DC to visit my sister as my "birthday present".  Mark could not tell me that she was going to be flying in for my surprise birthday party as that would ruin the surprise.....nor could he deny my request to go visit my sister since then he would seem like a jerk.....so he reluctantly agreed and had my sister play along on a date that would work.

On the way he asked me if I would have not wanted to go out if I knew that she was coming in for my birthday party. 

I would have still wanted to come out - over the years we have tried to get trips back and forth so that we are seeing each other once a year plus maybe Christmas - but I may have looked at a different weekend.  Probably in the spring or the fall.....

DC is hot in the summer.  And, it was built on a swamp.  So it is hot....and extremely humid.

Now I know that everyone thinks that Minnesota is essentially the Arctic and that it never gets hot here.  It actually does.  We have the pleasure of extremes.  The coldest temperature recorded was -60 degrees F (with windchill) and the warmest was 114 degrees F.  We have even seen temperature changes up 72 degrees F within a 24 hour period.

It wouldn't be so bad if this was a dry heat, but sadly it is not.  Minnesota really is the land of 10,000 lakes (11,842 actually according the MNDNR).  Lots of water leads to lots of Mosquitoes (see my posts last summer about our "state bird") and high dew points.  Our average relative humidity is 79% in the morning and 62% in the afternoon. Did I mention that Minnesota is on the northern edge of "tornado alley" with an average of 27 tornadoes per year, and that our average snowfall is   with single storms dumping almost 30 inches at once. 

Please explain to me again why I live here?

Anyway, turns out that the average relative humidity in DC is only slightly different than Minneapolis (83% in the morning and 55% in the afternoon). 

In our defense, the temps were in the 90s this weekend with dew points in the 80s (meaning uncomfortable).  We typically spend nearly all of our time inside (a nice temperature and humidity controlled environment), so spending large quantities of time outside, walking around, is not the norm and we are not used to it.

It was good for us to get a weekend away.  While everything that we have been experiencing lately is a happy event, it is also very, very stressful.  It was good for us to get a away from everything (if only for a little while) and that I got to spend some time with my sister.

Surprise!

Today I went into work for a while to make some headway on a project that I have been working on.  I HAD to leave by 5:30 at the very latest in order to get home by 6:00 in order to be at our friends house by 7:00.  They were making an awesome fancy dinner to celebrate our upcoming birthday.  I say "our" because my friends husband and I share the same birthday.

A while back we had dinner with them and they suggested that we do a fancy dinner together to celebrate our birthday.  They would host and cook we just needed to bring an appetizer and an awesome cake from Woullet Bakery.  If you are from the Twin Cities and you have never had Woullet's you need to go.  If you are not from the Twin Cities it is worth the trip.....

In typical Teri style I do not leave work at 5:30, no, I don't leave work until 6:00.

Now I am stressed out and rushing to get home.

And I have to pee......BAD.

I call Mark on the way and let him know that I was coming and that we had to leave right away when I got there.  He promised to have the car packed and ready to go.

I get home, decide that I don't even have time pee (I would have to hold it until I got there) and away we went.

Somehow we actually made it there at 7:00. 

I get in the door and as I am taking off my shoes I let our friend's husband know that I need to have to hit the bathroom.  He said that my friend needs to show me something quick first.  Ack!  Pee!  It must be good since Mark has already disappeared until the kitchen.

I turn the corner and greeted by a room full of my friends and family.  My family!  My sister and her husband flew in from DC.  My parents, my sister, my other sister and her husband all came up from Iowa.  My friend, husband and new baby who I have not yet met were there.  My "CPAs gone wild" friends were there.  My girlfriend who has two very young children who I don't get to see that often was there (and her husband had the kids so it was a big night out for her).  My matron of honor and her hubbie were there.  Our other friends with babies who don't get to get out often anymore were there (a few couples). 

I was in shock.  I didn't know what to think or say.

When everyone yelled surprise I couldn't help but start cyring - but happy tears.

I could not believe that everyone had pulled this off.

What a nice surprise.

Cautiously Optimistic

Today we had our confirmation of pregnancy ultrasound.  We are at 6 weeks 6 days pregnant.

Now I know that this sounds ridiculously early to most people since the first ultrasound is typically performed between 18-20 weeks unless the pregnancy is considered high risk.  All IVF pregnancies are considered high risk.  Add being over 35 to an IVF pregnancy and your are super high risk.

In a typical pregnancy, you are supposed to schedule a confirmation of pregnancy appointment with your ObGyn after you have had a positive pregnancy test.  At this appointment they will typically perform a variety of tests such as a urine test, blood work (mainly infectious disease screening and tests for anemia), a physical exam and a pelvic exam.  The doctor will also listen for the heartbeat via Doppler (an external ultrasound without pictures).

When you have had infertility treatments you get to have a normal first ObGyn appointment only after you have endured a few appointments with your RE.

You have a beta (blood test) at approximately 4 weeks pregnant.  You then have a second beta two days after that to ensure that the hcg level is rising appropriately - it should at least double every two days.  If the hcg level is not rising appropriately you will have more beta tests in addition to the normal two.

Once the pregnancy is at least 6 weeks, you will have a confirmation of pregnancy ultrasound to determine viability of the pregnancy.  At six weeks, the heartbeat can be detected via vaginal ultrasound.  The doctor will also take several measurements to determine if the fetus, the uterus and the placenta are all developing at a normal rate.  You will also have a blood test to check your hormone levels to determine if your medicine levels are appropriate (remember that in IVFs and IUIs you are taking progesterone and estrogen which is essential until the placenta develops enough to produce its own.  Since you have "forced" your body into pregnancy it would not have released these hormones on its own as it would in a normal pregnancy).

If everything is measuring on track, you are told to set up an appointment with your OgGyn within a few weeks.  You need to return to the clinic for at least one more blood test to check your hormone levels (most people are off the hormones between 8-10 weeks), but at this point you have been essentially released by your RE.

This is a bittersweet moment.

At this point, we have spent countless hours at the clinic in consultations, ultrasounds, blood work, and procedures.  We have laughed, cried and hoped together.  And now that we are pregnant their job is done and it is time for us to move on.

Our ultrasound was an interesting experience.  The room was typical in that it had a curtain around the exam table and a chair in the corner of the room outside of the curtain for the spouse/significant other to sit.  We laughed that there was only one chair.  Obviously there isn't typically more than one person outside of the curtain.  Our clinic has been pretty awesome in making a strange situation seem normal - they made another chair appear before we even asked.

We had a little time to chat before the nurse came back for the ultrasound.  Our GC commented on the vaginal ultrasounds.  Before this process she had never had one (despite two normal pregnancies).  I never thought this was strange since I have had sooooo many throughout this process, plus the infertility diagnosis, plus a few troublesome ovarian cysts over the years.  I never realized that you could go through your entire life without ever having a vaginal ultrasound!

The process began and immediately we saw our maybe baby.  Keep in mind at this point Maybe is only around 9 mms.  The one thing that we could see clearly was the heart sack, which was constantly flashing like a little strobe light.

I starting firing off questions - "How does everything look?"  "Is everything measuring normal?" "Is the heart rate normal?"  I also started babbling on about how Maybe is the size of a blueberry and kind of looks like a baby otter at this point (I have secretly been out on babycenter.com http://www.babycenter.com/pregnancy-week-by-week checking out the pregnancy by the week section).  The nurse thought I was pretty amusing.

The nurse assured me that everything was measuring right on track including the heart rate.  Our RE then talked to us about next steps.   Our GC was to have a blood draw before we left to check her hormone levels.  Based on the results they would set her next blood draw visit.  We were also to set up an appointment with an ObGyn in 3 weeks.  Our GC is cleared for mostly normal activity, but no high impact exercise, heavy lifting, or sex (our GC's husband is really taking one for the team).  They want you to be very careful until the placenta is fully formed (10ish weeks).  Our RE also went through vitamins and supplements with our GC and stressed eating carbs.  She was worried about protein - our RE said protein is important but right now it is carbs, carbs, carbs.

Our RE starting closing by letting us know that the takeaway of this appointment is that we are measuring normal at 7 weeks.....not guaranteeing us a "take-home baby".  He reminded us that even at this point, after hearing the heartbeat, our chances of miscarriage are still at 15%.  This is primarily due to my age - Maybe was produced when I was 38.  If Maybe was produced today our miscarriage chances would be even higher.  To end on a positive note, he said that this also means that we have an 85% chance of success.

Trust me.  Our RE wasn't telling us anything that I did not already know.  I am fully aware of the risk factors that we have due to age and history.  We are at increased likelihood of miscarriage and birth defects.

The risk for miscarriage increases with age. Studies show that the risk of miscarriage is 12% to 15% for women in their 20s, rises to about 25% for women at age 40, and jumps to 80% at age 45. The increased incidence of chromosomal abnormalities contributes to the age-related risk of miscarriage.

Our GC said that her pregnancy symptoms have been increasing, with a noticeable uptick over the past few days (very normal at around 7 weeks).  So, as long as her symptoms continue at a normal rate that means that everything is normal, right? 

My RE and I looked at each other and I knew that we were thinking the exact same thing.

The answer to that question, unfortunately, is no.

In a lot of cases, you are pregnant until you are not.  Many people who have suffered miscarriages report that their symptoms stopped suddenly right before they miscarried and that they had all of the normal symptoms right up to that point.

With age there is also an increased risk of missed miscarriages.  A missed miscarriage also known as a silent miscarriage, occurs when a fetus dies, but the body does not recognize the pregnancy loss or expel the pregnancy tissue. As a result, the placenta may still continue to release hormones, so the woman may continue to experience signs of pregnancy. A missed miscarriage is usually diagnosed during a routine checkup, where the doctor will fail to detect a heartbeat. A subsequent ultrasound will show an underdeveloped fetus.


Most missed miscarriages are caused by chromosomal abnormalities in the fetus, which do not allow the pregnancy to develop.

Infertility treatments can increase the likelihood of missed miscarriages due to the fact that medications such as progesterone are taken to support the pregnancy until the placenta is fully formed and begins to release hormones on its own.  The progesterone taken can continue to support a pregnancy that would not otherwise be able to sustain itself, thereby masking a miscarriage and delaying the inevitable.

To sum everything up.  The ultrasound today was a good check point.  We have progressed in our pregnancy....but we are not completely out of the woods yet.  Our check in at 10 weeks will be be a critical check point, as well as the completion of screening and diagnostic tests for birth defects.

While I am happy that we have made it this far, I am still very scared....and rightfully so.

Flashback Fourth

While celebrating the birth of our country, I also spent some time reflecting on how this Independence Day is vastly different than the past few Independence Days. 

Julu 4, 2014 - We were in the midst of selecting clinics for surrogacy in India.  We had a call with a clinic on the morning of July 4th since it is not a holiday there.  We were hopeful that we would be returning to India in about a year's time to collect our baby, maybe even babies....

July 4, 2013 - We were getting ready to start our first IVF cycle.  We were hopeful that in about a year's time we would be witnessing the birth of our baby, maybe even babies....

July 4, 2012 - We were in the process of pre-screening for using a gestational carrier.  While we were nervous about the prospects of our gestational carrier working out, we were hopeful that in about a year's time, we might be winessing the birth of our bably, maybe even our babies.

July 4, 2011 - We were 6 months into our marriage and starting to talk about our options and starting to research IVF, gestational surrogacy and clinics.  We were hopeful that within a couple of years time we might be witnessing the birth of our baby, maybe even our babies.

Flash forward to July 4, 2015......

We are now on our 5th gestational carrier, two of which were in India. 

We have had three IVFs - one cancelled due to poor response, one resulting in poor quality embryos, and one in India. 

We have transferred 6 embyros in two transfers - one was a BFN, one was a chemical.

We had four frozen embryos left here....we were lucky to have one grade 3 day 5 morula to transfer to our gestational carrier on June 11th.

We have had two positive beta tests.  They were positive, but not overwhelmingly so.

Today were are 6 weeks pregnant, but less hopeful that we would be celebrating Independence Day with our maybe baby.  We now that it would be only one, not twins like we had riduculously hoped for before. 

If we have one, it will be only one.