{31 for 21} Prenatal Testing

Everyone has their own beliefs on prenatal testing.  I'm not one to judge others for the decisions they make, as long as they make an educated decision based on facts.  There's two very common questions that I usually get.  1) Did you know about Kennedy's diagnosis before she was born?  2) Did you have prenatal testing with Caleb?

When I was pregnant with Kennedy, we made the decision not to have the genetic screenings.  It would not have changed anything, and we didn't want to worry about the chances of "false positives."  When she was born and the midwife explained that she thought Kennedy had Down syndrome our life was turned upside down, or so we thought.  Initially, I regretted our decision not to have the screening.  I wished we had known, in order to mentally prepare.  And then my midwife told me that we wouldn't have been able to have her at the birth center.  If that was the case, I was glad I didn't know.  The first few weeks were tough.  It was definitely the happiest time of our lives, but also a period of acceptance. 

When we got pregnant with Caleb, I already knew how amazing life was with Down syndrome.  I knew there was a slightly higher risk of having another child with Down syndrome.  I wasn't scared of Down syndrome.  I was however scared of the medical complications that could go along with it.  We made the decision not to have any testing, with the goal of having a home birth.  Our bubble was burst at one of my first prenatal appointments when the midwife told us that we would have to consult with an OB and have her approval because of Kennedy's history.  The doctor recommended an AFP screening and a level II ultrasound, before I could be approved to continue care with them.  The AFP screening scared me.  I didn't want to deal with odds or the "unknown."  But I also knew, no matter what the "odds" were, it wouldn't change things and I wouldn't have an amnio to confirm a diagnosis.  Fortunately, the MaterniT21 test was available, somewhat locally.  We traveled 2 hours to see a Maternal Fetal Medicine physician that ordered the test.  It was a long two weeks waiting for the results.  Like I said, the idea of another child with Ds didn't scare me.  But the idea of juggling Kennedy and a child in the NICU or one needed open heart surgery did scare me.  I was able to devote every second of my time to Kennedy, and I knew that if we had another child with significant medical needs, it would mean balancing and splitting time between them.  That scared me.  I was also scared of how a positive result would impact our plans for the birth.  After having Kennedy in a birth center, I couldn't imagine a hospital birth or the interventions that would come. 

The MaterniT21 test comes with great controversy.  Some people believe that it will eliminate the population of individuals with Down syndrome.  I don't necessarily believe that.  Even if the test becomes more readily available, there will always be people who recognize the value of life, regardless of how many chromosomes there happen to be.  Personally, I'm glad that I was able to access non-invasive testing, and avoid the stress of the unknown, or jeopardizing my home birth plans. 

Kennedy's Surprise!

Today was our appointment with the Maternal Fetal Medicine specialist.  I went into this with a lot of anxiety.  It went much better than I expected.  For one, I don't think she ever realized that I see a group of midwives or that I was planning a home birth.  She just kept telling me that she would send a report to my OB.  Let me tell you, today's visit made me even more appreciative of my midwives, and I'm really not sure that was possible!  We waited forever.  It was freezing cold in there.  And although the doctor was nice, she most definitely was not very personable.  Long story short - the ultrasound looks perfect.  I won't go into all the anatomy and measurements, but most importantly there's four heart chambers.  Although it's too early to see many heart defects, she said any of the truly major ones would show up now.  (For what it's worth, Kennedy's heart defect is not considered major in their eyes.)  She said that there was nothing on the ultrasound that would indicate the potential for Down syndrome, though it's still kind of early to tell.  This was a relief to hear!  I've said it before and I'll say it again.  Although Down syndrome doesn't scare me, the idea of having a child with health problems did concern me - regardless of how many chromosomes he or she has.  So knowing that as of now, baby looks healthy, is a relief!

I was given a referral for the MaterniT21 blood test.  However, that could not be drawn today.  It has to be scheduled, and drawn first thing in the morning due to the way that the blood is handled prior to shipping it to California.  I'm not thrilled about driving two hours each way (again) - but it will be worth it.  It then takes 7-10 days to get the results.

I have to admit, it was a pretty neat ultrasound.  I never saw anything that detailed with Kennedy, and we didn't have one until much later with her.  Baby was bouncing around, pushing off my uterus and doing flips and turns.  Now I can just imagine what is going on in there when I feel all the squirming.  There was one thing that was very evident on today's ultrasound.  This baby was DEFINITELY not shy about showing off!  Kennedy wants to be the one to tell you though.

 Oh, you want to know my secret?

What, you can't read it?  It's blurry?

What mom?  I'm holding it in the wrong direction?

I give up.  Is this better? You're lucky I'm not eating it.

 

Yes - you read that right.  Kennedy is going to have a little brother!! (And it only took 100 pictures to get something that could be read as well as that!)  We are so excited to see Kennedy and her brother together and watch them become best friends.  Here is a picture of our little boy!  

Prenatal Testing- Take 2

Wow.  What a difference a day makes.  My head is spinning from everything that's happened in the past 24 hours.  Some of you may remember I wrote a post on our decision to decline prenatal screenings with this pregnancy.  We were firm with our decision and I was amazingly calm about the potential for another birth diagnosis.

Yesterday at my appointment with the midwife I was shocked to learn we would have to consult with an OB because Kennedy's history brought me into a risk category.  I discussed it at length with my wonderful midwife and felt comfortable with the fact that I would have to have a level II ultrasound to look for soft markers for Down syndrome or a heart defect.  Unfortunately this also meant that if there were concerns, I would potentially have to follow through with an amnio.  The more I thought about this, and talked to my husband about it, the more nervous I got.  Not about having another baby with Down syndrome.  But about having another baby with medical complications, which is clearly a higher risk when a child has Down syndrome.  Then there was the potential that the level II ultrasound would be fine, and we could still have a shocking birth diagnosis.  I absolutely do not want to risk out of care with the midwives, but at this point it seems inevitable that we could end up with a prenatal diagnosis, and now my anxiety level is at 300.  After much research, consideration and discussion, we have a new game plan.

I'm waiting for a call to schedule an appointment with the Maternal Fetal Medicine physician about 1.5 hours from us.  We'll be consulting with her, in order to obtain the MaterniT21 test.  This will tell us with about 99% accuracy if the baby has Down syndrome or not.  Best case scenario - we find out that the baby does not have Down syndrome, and we are able to continue care as planned, as long as there are no cardiac concerns that would prohibit it.  Worst case, if we find out that the baby does have Down syndrome, we will be risked out of the birth center.  Down syndrome doesn't scare me.  But the health issues that can come with it, do.  And so does the idea of risking out of my midwives care.  After they played such a huge role in Kennedy's birth, and the postpartum period, I cannot imagine them not being a part of this pregnancy.  I do have a game plan in my mind, if that's what it comes down to.  We had a wonderful experience at the hospital where Kennedy's heart surgery was performed, and in order to avoid the stress and tears that our NICU experience provided us, I would not hesitate to drive that far, if it meant having a better experience.  But in the end, hopefully it doesn't come down to that.

So for now, we wait.  Oddly enough, I was okay with waiting until birth to know whether or not this baby had Ds, but now that the wait is only weeks away, my anxiety level is through the roof over it.  Maybe as the birth got closer I would have felt this way anyway?  Who knows.  Hopefully, they will be able to schedule the appointment in a reasonable time frame, and 8 days after having the test completed, we'll know what to expect, one way or another.

To Test, or Not To Test?

That seems to be the question  I'm hearing a lot since we announced our pregnancy.  It's also a hot topic on all those pregnancy message boards you see.  As I've mentioned in previous posts, it's something like 90% of babies diagnosed with Down syndrome prenatally are aborted.  This is truly heartbreaking to me.  So when I saw the title of a post on my message board the other day, I cringed and considered not reading it.  Instead, I prepared myself for the worst and figured that I would set out to at least try to educate these women about how wonderful having a child with Down syndrome is.  And that they are truly more alike than different.  I was shocked to see that with the exception of one or two responses everyone said that having a child with Down syndrome would not have an impact on their pregnancy.  Of course, I was heartbroken at the mere mention of termination, but mostly it brought tears to my eyes at how many women realize that all children have value, and how wonderful children with an extra chromosome are.

I respect each woman's decision to follow through with prenatal testing or not.  It's a personal decision that's only right for each family.  Many of you probably know that we opted out f all screenings with Kennedy, and that we were surprised by her diagnosis when she was born.  It was a very emotional time for us, and at first I regretted that we did not know.  Not because it would have changed the outcome for us, but it would have helped to be prepared mentally.  We knew nothing about Down syndrome, local resources, etc. and there was a lot of fear.  Once my midwife mentioned that had we known prenatally I would have been risked out of their care, I was immediately glad that we didn't know.  As much as part of me would like to be prepared this time, just to avoid the shock factor if we were to have another child with Down syndrome, it's not a risk I'm willing to take.  We will once again be opting out of all screenings.  Yesterday at our cardiology appointment the physician brought up the question of a fetal echocardiogram to rule out any heart defects.  After discussing with her, this is also something we will be opting out of.  Kennedy's defect is associated with Down syndrome, and Dr. Nardell is confident that if Kennedy didn't have Ds, she also probably wouldn't have had the AV Canal Defect.  Because small defects, that often resolve before birth are quite common, and would risk me out of my midwives care, the cardiologist is in agreement with me, that the echo isn't a risk that we need to take.  If there are any concerns after the baby is born, or if I want that peace of mind, she'll be happy to see him/her and do an echo. 

This is the best decision for our family.  I've already found it to be somewhat unpopular with people have asked.  I've seen a lot of shocked faces when we explain that we won't be doing any testing or that we didn't have genetic counseling before conceiving again.  Kennedy is a blessing to us and our families and our little ray of sunshine.  We are far more prepared for having a child with Down syndrome now than we were with Kennedy, and if that's God's plan for us once again, then we gladly accept.