A Bright Spot

I'm finally ready to tell about our visit to the fetal medicine specialist in Louisville. Let's start at the end so that the suspense doesn't kill you. The blood test showed Emmie is at low risk for the three most common genetic trisomies. Hurray!

Back to the beginning. We see a fetal medicine specialist because they have the really good ultrasound equipment and can scan thoroughly to let you know if there are any problems or possible complications. The ultrasound takes an hour. That's how thorough they are. They document and measure arm bones and leg bones, several organs, and even several parts of the brain. And they can even examine the placenta and umbilical cord, which are what concerns me most after Neil.

Emmie made things difficult for the ultrasound tech, but the scans looked good except for a bright spot in her heart called an echogenic intracardiac focus (EIF). According to Wikipedia (and our doctor), EIF "is thought to represent mineralization, or small deposits of calcium, in the muscle of the heart. EIFs are found in about 3-5% of normal pregnancies and cause no health problems. EIFs themselves have no impact on health or heart function. Often the EIF is gone by the third trimester. If there are no problems or chromosome abnormalities, EIFs are considered normal changes, or variants." Emmie's heart looked perfectly fine except for the calcium deposit, so her heart is fine.

The problem is that EIFs are a "soft marker" for Down syndrome. Up to 25% of Down syndrome babies have this condition. Having the condition doesn't mean that you have Down syndrome, but babies with Down syndrome have the condition more often than other babies do. And my "advanced maternal age" is also a risk factor for chromosomal anomalies. The ultrasound showed no other indicators of Down syndrome, so the likelihood of her having it were low; however, the main rule of obstetrics is "better safe than sorry,"although sometimes is feels like the rule is "panic at every opportunity." 

The doctor gave us options for testing if we wanted to prepare ourselves in case Emmie did have Down syndrome. She didn't recommend an amniocentesis because of the risk of miscarriage, which might have been higher than Emmie's risk of having Down syndrome. We chose to do the Harmony test, a cell-free fetal DNA test which just required a blood draw from me. The test looks for fetal DNA floating in my blood and determines high or low risk for Trisomy 21 (Down syndrome), Trisomy 18 (Edwards syndrome), and Trisomy 13 (Patau syndrome). Trisomy means an extra copy of a chromosome, giving you three instead of just the two you're supposed to have. None of these trisomies are good, but Down syndrome is the least life threatening.

We got the results today that Emmie is at a low risk. It's a screening test rather than a diagnostic test, so it's not 100% conclusive, but it's very accurate. According to the testing website, "Harmony delivers exceptional accuracy with detection rate greater than 99% and a low false positive rate of less than 0.1%." That's good enough to put our minds at ease.

We have a follow up appointment for another ultrasound in Louisville in five weeks. The calcium deposit should take care of itself eventually. They just want to make sure that nothing else develops. If that scan is OK, they'll let our regular OB take it from there. Hopefully, everything is OK. We've had enough excitement.