A Small Bump In Road

Our OB offered us non-invasive screening for Downs Syndrome. I am only 33 so he did not push it at all but left the decision and option completely up to us. We decided to go through with the screening, anticipating the results would of course be clear.

Yesterday morning we went to the Maternal and Fetal Medicine clinic that our OB referred us to for the screen. The screen itself is the nuchal translucency screening test, which uses ultrasound to measure the fluid behind the baby's neck. The end result is a measurement, in millimeters. The thicker or bigger the measurement, the higher risk the baby has for having Downs Syndrome or other chromosomal abnormalities. Normally this measurement is combined with a blood test to give a statistic, i.e. you have a 1 in 350 chance of having a baby with Downs Syndrome.

Our measurement was 2.4 which is in the "upper range" according to the doctor. They like to see around 1.4 or 1.5. Over 3.0 indicates a significantly high risk for Downs. Our measurement was borderline. So much so that they didn't even proceed to draw blood but instead gave us the option of doing a CVS or amniocentesis. The amnio cannot be performed for weeks but the CVS could be performed immediately. We opted for the CVS. The risk of miscarriage with the CVS was lower than the risk of Downs Syndrome with our measurements and I, as a worrier, would worry myself and the baby into misery if I didn't know something.

They moved us to another room for the procedure. They stuck a long needle (twice!) into my uterus through my belly and extracted some of the placenta which was then sent off to be analyzed for chromosomal abnormalities. By Tuesday we'll get a definitive answer for Downs and a few of the other more common chromosomal abnormalities, like Turner Syndrome. It will be 10 to 14 days before we get back the results for the litany of other possible abnormalities, most of which are very rare.

There is a very good chance the baby is just fine and healthy. There is the possibility that the fluid is not an indicator of a chromosomal abnormality but indicates a heart defect, the most common of which can be corrected by surgery at birth. There is always the chance the baby has Downs or some other syndrome. And then we have to make the difficult decision about whether to continue on or not. Quite honestly, I think the answer is that we wouldn't continue, but we'll cross that bridge if we come to it.

We weren't expecting this. After the miscarriage I felt like I had gotten all of the bad stuff out of the way. Sometimes knowing so much just makes things more difficult. We had more early tests than most women in this process because of our involvement with our wonderful reproductive endocrinologist who followed us daily until releasing us to the OB. The OB has been wonderful and works in conjunction with the doctors at the Maternal and Fetal Medicine clinic. At 11 weeks, I have now had 5 ultrasounds and who knows how much blood drawn. Many women only have one ultrasound around 20 weeks. But I wouldn't trade it for anything because in the end, I will know I have done everything I possibly can to ensure this child enters the world healthy and safe.

If we get an all clear, the Maternal and Fetal Medicine doctors will do an echocardiogram on the baby at 17 and at 22 weeks, along with more in depth ultrasounds. We'll also continue with our OB. I couldn't ask for better care and for that we are so very thankful. I will keep you all posted on the outcome of the tests and hopefully have good news to share on Tuesday. Until then, we're off to the mountains for the long weekend, to relax and just to be.