The last 2 weeks have been a roller coaster of emotions.
As I mentioned in my 13 week update, we had an ultrasound as part of our first trimester screening.
The Nuchal translucency ultrasound:
Nuchal translucency screening, or NT screening, is an ultrasound test. It screens for Down syndrome (trisomy 21, meaning an extra copy of chromosome 21) and other disorders that are caused by extra copies of chromosomes (trisomy 13, trisomy 18), as well as congenital heart defects.
Fetuses who have an extra chromosome may have more fluid at the base of their necks — a spot known as the nuchal fold — and this can make their necks larger. This fluid can be measured on a sonogram during weeks 11 to 14 when the base of the neck is still transparent. Timing is crucial, because the nuchal fold becomes less transparent as your baby grows. NT measurements are not conclusive, so the NT screening test can't tell you for sure whether your child has a chromosomal disorder, but it can be combined with other data (from blood tests and from population studies) to provide a statistic about the likelihood of such a disorder. This information can be helpful to parents who are trying to decide whether to have more invasive genetic tests, such as amniocentesis or chorionic villus sampling.
NT screening can be combined with blood tests for more definitive results. For example, your first trimester blood test measures free beta-hCG (a certain type of human chorionic gonadotropin hormone) pregnancy protein called PAPP-A (pregnancy associated plasma protein A). Low levels of PAPP-A early in pregnancy indicate increased risk of genetic abnormalities, heart problems, and preterm birth. The results of these two blood tests plus the NT screening, known as the first trimester combined screening, can be combined into one number that represents the likelihood of having a child with a genetic abnormality.
The tech said things looked great and even pointed out gummy bear's hands/fingers. The second step of the screening was to get blood drawn to look at pregnancy hormones. Afterwards we met with my primary doctor to listen to the heart beat. Our doctor said everything looked great with the ultrasound. I scheduled my next appointment for 4 weeks later and left the clinic with a goofy grin on my face. [Seeing our wiggle worm on screen is incredible].
Fast forward to Tuesday afternoon. I had a voice mail from the doctor stating I should call him back to go over my test results. Immediately I knew something was wrong...doctors don't call with normal results. My fears were confirmed when the doctor told me my screening test came back as positive for Down's Syndrome.
I need to point out that this screening test is NOT a diagnosis. It is just a report that states your risk of having a baby with chromosomal abnormalities. A 27 year old has a 1 in 1,111 risk for having a baby with trisomy 21 (Down Syndrome). The screening test identifies a positive result if your risk is determined to be 1 in 47 or less.
Needless to say I burst into tears at work and called Chris right away. I couldn't even get my words out in a full statement without crying. My heart was breaking into a million pieces and I felt as if someone had punched me in the stomach. That night I couldn't stop sobbing. The pain I felt as I grieved for my baby was horrific. I grieved for his/her future and all my hopes and wishes. I feel guilty admitting this but I immediately began to shut down on any emotions I felt with my pregnancy and bonding with the baby. I began researching a lot and found a lot of women go through similar experiences when given a positive screening test.
I found out that 2 of the hormones they look at in the blood test were wonky. My beta hCG levels were higher than normal and my PAPP-a was lower than normal. Both of these results are weakly associated with Down's Syndrome. [From my research I found that these hormones vary greatly from individual to individual. Every woman's body responds differently to pregnancy. Some pregnant ladies just make more hCG. There really is no normal] So while the ultrasound looked completely normal, my abnormal blood work flagged as high risk.
The next day I went to the clinic to get more blood drawn. In light of the positive screening, my doctor had given me 3 options for more definitive testing. All of these tests look at the baby's chromosomes to determine if there is an abnormality. They also determine the sex.
(1) Chorionic villus sampling (CVS) - Actually this wasn't an option for me because I was past the first trimester
(2) Amniocentesis - I would need to wait until 16 weeks and it has a risk of miscarriage since it is an invasive test. Results take up to 2 weeks
(3) Verifi - this is a new type of test that involves taking a blood sample from the mom. The baby's DNA is mixed with my blood so they are able to look at the chromosomes. Results come back within 1 week. This is the option I chose as it is safest and would give us results earliest.
The waiting game is the absolute worst. I barely slept all week. I was obsessed with researching and reading other's experiences on pregnancy forums. I had a huge knot in my stomach all day long. No appetite. No emotion. Just empty. Waiting obsessively for the phone to ring. [I realize this sounds incredibly selfish and I am cringing as I type....but I am just trying to keep this honest.]
Exactly one week after I had the Verifi test, the clinic called. The nurse said, "I have the results of your Verifi test and everything looks normal with your baby. Now relax and enjoy the rest of your pregnancy."
I have never been happier in my life. I immediately called Chris who was in New Orleans for work to tell him the good news.
I've had a week to reflect on this roller coaster we experienced...When I first opted to have the first trimester screening I was very naive. I thought, I'm a healthy 27 year old. I am a dietitian. I eat healthy and exercise. The screening is nothing. When we got the abnormal results it shocked me to the core. How could I be so naive to think nothing could go wrong? Here I was thinking about foolish things like not gaining too much weight, the baby's gender, nursery colors, cute outfits, etc...I suppose these are all normal things one thinks about during your pregnancy, but they seemed so foolish compared to the baby's health. My entire being ached for my baby to be okay. I would give anything and everything for a healthy baby.
Deep down I knew we had a strong chance of having a perfectly healthy baby. The screening tests identify many false positives.The majority of women who receive a positive screening will go on to have healthy babies. But I kept thinking, what if we are that 1%...I am no different than any other pregnant woman. I did a lot of praying that week. I knew we were going to love the baby regardless of the outcome. A baby brings joy and happiness no matter what the circumstances. As the week went by I started to have more peace of mind with the outcome. I really think this was part of God's plan- he was testing our strength and faith. Teaching us that a healthy baby should not be taken for granted. He was preparing us for parenthood. Were we willing to give this baby everything even if it meant our future would look different than we imagined? God needed me to be okay with having a special needs child. He needed me to let go of the control and put my trust into his hands.
He needed to test my relationship with Chris. Could we handle the unknowns of our future? Was our marriage really strong enough? Chris was my rock during this whole ordeal. He would just quietly hold my hand while my body was shaking from the sobbing. He was calm and told me everything would be okay. And if we did have a special needs child, he/she would be unique and so special. At that moment I knew no matter what the results were, we would be okay.
I am so incredibly thankful to know everything is healthy so far. We now understand the true meaning of wanting a healthy baby. And I will never ever forget that.
