Baby girl sucking her thumb.

After a blissful weekend of celebrating and looking on Pinterest for nursery plans, it did not once cross my mind that anything was wrong with our little girl.  On Monday morning, while at work, I got a call from the doctor's office.  It was too soon to be reminding me of my next appointment so what could this be about?  I spoke with a nurse who said, "Everything is normal with your ultrasound except two things."  I began to freak out.  Everything is not normal if there is an "except".  The nurse said that there were two abnormal finding.  First, a choroid plexus cyst (CPC) in the brain, and second, an echogenic intracardiac focus (EFI) in the heart.  Well cyst in the brain and something in baby's heart sound pretty serious to me and naturally I begin to worry.  The nurse goes on to explain that a CPC is a normal variant and it is when they see fluid build up in the brain. A CPC is a soft marker for Trisomy 18.  An EFI, which is also a normal variant, is a calcium deposit in the heart and is a soft marker for Down Syndrome.  She goes on to explain that everything else looked normal so the chances of either chromosomal disorder are very unlikely.  I, however, wasn't paying much attention because the thought of anything being wrong with my baby girl was gut wrenching.  I got off the phone and could not stop crying.  It only made matters worse when I actually researched Trisomy 18 since I had no idea what it was.

After finding out the news I immediately left work to go see David.  I did not know what to do or what to think.  After sharing the news we both decided it would be best to take the rest of the day off.  When we got home, we called the nurse again.  I wanted David to hear first hand what was going on and now that the shock had worn off a little, I needed to ask more questions.  The second nurse we spoke with was much more reassuring.  She told us that almost always with Trisomy 18 they will see other indicators on the ultrasound besides a CPC (such as missing fingers, facial abnormalities, etc.).  She said we should not worry about it at all and that even though it shows up on only 1% of ultrasounds, the chances are still very very unlikely.  In her 10 years of working in the NICU, she had only seen Trisomy 18 one time.  She also told us that a CPC is considered an indicator for it because 40%-60% of babies who have Trisomy 18 had a CPC on their ultrasounds.  She said that the EFI shows up on about 3%-5% of all ultrasounds, and given my young age, the chances of our little girl having Down Syndrome is very unlikely.  She said she even feels like this shows up more than 3%-5% of the time because she makes calls like this several times a week.  She told us that she dreads making these calls because most of the time it turns out to be nothing and it causes unnecessary worrying, but legally they have to call with any findings from the ultrasound.  The nurse recommend I get a Quad Screen which is a blood test that measures the likelihood of genetic disorders.  She said, "If the Quad Screen comes back negative, if I were you, I wouldn't worry at all."

Well, even though statistically my chances are slim, I cannot help but worry.  Last night I literally worried myself sick and could not keep any food down.  I didn't even know about these "soft markers" before my ultrasound.  I guess they are right when they say ignorance is bliss.  At this point I feel like I cannot fully enjoy my pregnancy knowing that my risk is higher because of my ultrasound results.

Last night I read Mommy discussion boards until I fell asleep.  It turns out there are countless numbers of cases where these showed up on women's ultrasounds and everything was perfect with the baby.  Some say with technology getting better they are even picking these soft markers up more and more and that some studies even show that there is no strong evidence that, when isolated, these are not linked to Trisomy 18 or Down Syndrome.  In my case, although I have two markers, they are both considered isolated because they are indicators for two separate disorders.  Still having two show up is so horrifying and super scary.  Even after reading all of positive outcome stories, I cannot help but worry about our little girl.  I love her so much and I want more than anything for her to have a normal and happy life.

Today I got the Quad Screen and should have results back either tomorrow or Thursday.  If they come back positive, I will be referred to Maternal Fetal Medicine for further screening and testing.  Usually, you will be offered an amniocentesis if your risk of genetic disorder is greater than your risk of miscarriage from the amnio, but apparently there is a new, non-invasive, blood test that can diagnose some genetic disorders with 99% accuracy.  Even if the Quad Screen comes back negative, I think I will still ask my doctor for the referral just so I can have some peace of mind and be able to enjoy the rest of my pregnancy without worry or to start planning for the challenges ahead.  No matter what happens though, I will still love my daughter the same.  Please keep her in your prayers.