Ultrasound

After 96 hours of waiting...it was time. A time we had all anticipated and dreaded. I was ready...and yet so unprepared. I felt rather nauseated and yet somehow perfectly calm.

"There's a peace I've come to know

Though my heart and flesh may fail..."

Our ultrasound tech was young and energetic, but we could tell she was careful in selecting her words. We didn't expect to hear much in the way of diagnostics, but we were eager to learn the gender of our baby, the one normal aspect of this whole process. We love getting to meet our babies in utero! What a beautiful thing it is to see a tiny person wiggling around inside my belly, even as I can feel little movements.

The first thing we saw was "the string of pearls," a beautiful spine. Baby was face down at first, but that position didn't last long. We soon learned our little girl is ACTIVE! And fairly contentious, lol, as she didn't make it easy for the tech to take the needed measurements. In fact, we didn't learn for sure that we were having a girl until quite some time had passed; those little legs were clamped together!

Even though we didn't have numbers for comparing, Ted and I have seen enough ultrasounds to know that our baby was different in at least one respect. I waited...longed to see...those little hands opening and closing. I had never wanted to see that "Hi, Mom!" pose more, a snapshot we have in other baby books lining our shelves, a beautiful profile with a little hand "waving." But our baby never waved. Her hands remained in clenched fists, one of the common problems associated with Trisomy 18. 

"There's an anchor for my soul;

I can say, 'It is well...'"

Aside from the flailing fists, we really were not sure what to make of the whole ordeal. It seemed to take so long to get all the required measurements and photos. The tech even returned to the room after leaving so that she could attempt to get some better takes--we noticed that she zoned in on the top of the baby's head and her heart.

After what seemed an eternity, a doctor entered the room to speak with us. (I was so incredibly grateful to learn that they would not send us away from the medical center without some answers: how difficult it would have been to have to go home and wait some more!) The doctor noted several concerning things from the ultrasound, all of which are characteristic of Trisomy 18:

• The clenched fists, as we ourselves had observed
• Clubbed feet
• Small head (measuring in the 5th percentile)
• Fluid on the brain

While she said the ultrasound results did not show specific problems with the heart, she verbally indicated that there were some suspicious aspects that made them wonder--still, the official report does not indicate anything of concern with the heart. It is, however, something that they will look at closely during our next ultrasound.

Based on these findings, we followed through with an amniocentesis, the first I have ever experienced in all my pregnancies. 

"There's a peace I've come to know

Though my heart and flesh may fail...

There's an anchor for my soul;

I can say, 'It is well...'

Jesus has overcome, and the grave is overwhelmed.

Victory is won--He is risen from the dead.

And I will rise when He calls my name,

No more sorrow, no more pain

I will rise on eagles' wings

Before my God fall on my knees

And rise...I will rise

There's a day that's drawing near

When this darkness breaks to light

And the shadows disappear

And my faith shall be my eyes...

Jesus has overcome, and the grave is overwhelmed.

Victory is won--He is risen from the dead.

And I will rise when He calls my name,

No more sorrow, no more pain

I will rise on eagles' wings

Before my God fall on my knees

And rise...I will rise."

["I Will Rise" by Chris Tomlin]

This song was the soundtrack playing in my head during the whole hour and a half or so that I lay on that table. The few people who knew of our situation at that point were praying, and it was evident. Even as I tried to hold back tears, I could truly say, "It is well with my soul." 

We were told that the initial results of the amnio would come as soon as 1-2 days, with the final analysis finished within 7-10 days. Numbly I received more papers--Ted held quite the growing stack by this point. We scheduled another ultrasound for October 24, and finally the ordeal was over. We had spent nearly 4 hours in the university medical center. But the hardest part was to come: sharing with our parents and our other children what we had learned and then waiting...for what? Confirmation that our baby girl really does have Edwards Syndrome? We knew. We knew! The DNA analysis hadn't even begun, but in our hearts we were already On That Road.

What IS Trisomy 18 (Edwards Syndrome)?

We had nearly an hour-long consultation with a genetic counselor just before our ultrasound. Of course, after receiving the phone call from my doctor 4 days prior, we had immediately done some research on Edwards Syndrome. The analysis was pretty grim. I read enough to see that the studies on survival rates show an extremely high mortality rate either before or soon after birth for children with Trisomy 18. That was all the information I could handle during those days leading up to the ultrasound...one bridge at a time.

As you may perhaps surmise from the name of the condition, there is extra genetic material in the 18th chromosome that can cause a wide range of developmental problems. Our counselor gave us the following list of specific things the doctor would be looking for in our ultrasound:

• Heart defects, such as:

1. VSD (Ventricular Septal Defect): a hole between the lower chambers
2. ASD (Atrial Septal Defect): a hole between the upper chambers
3. Coarctation of the aorta: a narrowing of the exit vessel from the heart

• Kidney problems
• Part of the intestinal tract is outside the stomach (omphalocele)
• The esophagus doesn’t connect to the stomach (esophageal artesia)
• Excess amniotic fluid (polyhydramnios)
• Clenched hands
• Pocket of fluid on the brain (choroid plexus cysts)
• Rocker bottom feet
• Delayed growth
• Small jaw (mycrognathia)
• Small head (microcephaly)
• Low-set ears
• Strawberry-shaped head
• Severe developmental delays
• Umbilical or inguinal hernia

Among other things, our discussion also included information about how the quad screen blood test works as well as how Trisomy 18 was determined to be the risk factor for our baby as opposed to other genetic issues. It turned out to be a good biology lesson for all of three of us--Charis, our oldest daughter, had chosen to accompany us to the ultrasound. (I gave her the option since she has attended nearly every ultrasound we have ever had done...she loves seeing the babies in my womb and being the first to know their gender!)

Along with all of this, we learned more about our post-ultrasound options...what we might choose to do if the ultrasound findings were or were not clear. Basically, there were two things that could give us more specific information:

1. A blood test that would check specifically for chromosomes. This would give us results with 99% accuracy...however, there is the chance for both false positive and false negative results.
2. An amniocentesis. Based on an experience I had had 13 years prior with our third child, I was leery of getting an amnio because of the information I had received at that time, which seemed to indicate that an amnio would actually increase my chances of miscarrying the baby. The question we looked at was...does the amnio itself increase the risk of losing a baby, or is it perhaps the fact that most amnios are done during pregnancies with complications to begin with?

Armed with more information than we perhaps wanted, we decided on our own, in the counselor's office as she went to finish some paperwork, that if the ultrasound showed specific concerns, we would elect to have an amnio done immediately afterward. If the ultrasound seemed to indicate that all was well, we would go ahead and do a blood test on me just in case.

And then it was time. We followed the counselor to our ultrasound room where the tech was preparing for us.