12 weeks Pregnant: Sequential Screening

I have been debating whether or not to participate in the Sequential Screening process for this pregnancy.  Sequential Screening offers a non-invasive method (ultrasound and bloodwork from the mom) to screen for Down Syndrome, Trisomy 18 and Open Neural Tube Defects.  It cannot tell us whether the baby has any of these syndromes (like amnio or CVS which can tell with great accuracy, but also are more invasive, and the procedures carry their own risks), but it can tell us the likelihood that the baby may have one of the syndromes.  So, in the end, the Genetics Counselor can inform you that your baby has a 1 in 10 chance of having, say, Down Syndrome, or a 1 in 1000 chance or a 1 in 10,000 chance.  But still, they are just chances.  A 1 in 10 chance still means that 9 times out of 10, your baby will not carry the extra chromosome.  And a 1 in 10,000 chance still means that 1 baby out of 10,000 will still have the syndrome.

Still, the majority of women opt for having these tests done.  With my first pregnancy, I decided to keep my ultrasounds to a minimum, and since I felt knowing this statistic was not going to change the outcome of my pregnancy (I wasn't going to have an abortion; I probably wasn't even going to have an amnio or cvs if my stats came back telling me I was in the higher risk category), I opted to not have the screening done.

This second pregnancy, I have been debating having the tests done for the same reasons I did during my first pregnancy.  Other than probably peace of mind, I couldn't think of a great reason to have the test done.  And since I felt relatively peaceful in my mind anyway, it didn't seem necessary.  But when someone we know had a beautiful baby girl who was born with Down Syndrome (and they did not know in advance), I decided, perhaps I would like to have an idea of whether we had a greater or lower chance of having a baby with DS or not.  Again, it would not affect the outcome of my pregnancy, but maybe it would give me greater peace of mind, or maybe it would enable me to start mentally and logistically preparing for having a child with DS.

So I call up my OB's office and inform them that I have decided to have the Sequential Screening after all.  Luckily, the hospital quickly accommodates me, and my sonogram is scheduled for the end of that week.

Since we don't have babysitting, Mike takes the morning off to watch our toddler, and I attend our first "big hospital" ultrasound alone.  As I sit in the waiting area with all the couples, I miss Mike.  We have been extremely lucky that he's been able to attend all of my OB appointments so far, and for my last pregnancy, as well.  I wait for well over an hour, as that always is the case at this maternity building, but finally I am called in.

I first meet with a very friendly Genetics Counselor, who draws out a family tree for my side of the family, and Mike's side of the family.  She discusses how family may or may not expose possible red flags for genetic risks.  She asks if our 2-year-old knows about the baby and I share our son's comments and insights about the baby, which leave her impressed and laughing.

After this meeting, and after more waiting, my ultrasound begins.

The sonographer is cheerful and talkative.  It is incredible to see our little baby on the big screen!  This is no small blurry sonogram at the OB's office when the baby is the size of a pee.  The baby is now the size of a lime, 2 inches head to rump (they don't measure head to foot until around 20 weeks).  The picture is clear and we have a lot of time to look at him/her.  S/he is extremely active, putting his/her little hands to the mouth, hiding his/her little face, flipping around from side to side.  The sonographer tells me my baby is "so cute," and when I ask if babies look different to her in the ultrasounds or mostly the same, she says, "They do look mostly the same. But some are just cuter than others. Some do cuter things, like move their hands around--like your baby is being cute."  Even though Mike is not there, she shares in my awe of the baby and makes me feel as though I am having this experience with a friend.

She tells me that all of the measurements look great, and hands me a long roll of 2-D and 3-D images of the baby (although she warns me earlier that 3-D images at this point look a bit scary--and I have to agree a bit--the baby sort of looks like a skinny sumo wrestler! But I love it nonetheless).  My bloodwork is completed quickly and I am finally on my way.

A few days later, I receive a call from the Genetics Counselor.  She tells me that after this first screening (there will be a follow up during the 2nd trimester), my baby's chance of having one of the syndromes is in the lowest risk category, 1 in 10,000.  I know there is still a 1 in 10,000 chance, but it does give me some peace of mind.  And while I do not advocate unnecessary sonograms, it still was a pretty awesome experience to get to see my precious baby again, in all his/her active glory!