Testing and Pregnancy
In the course of the pregnancy, there are all sorts of tests to check the health of the baby. Some of the tests are optional, like the nuchal fold testing. Some are only offered in certain conditions, like an amniocentesis, and they carry their own risks. We found that one of the most challenging parts about the constant testing is the sensitivity of the screening.
When Lily had her second ultrasound at around 18 weeks, we were excited to get some good pictures and determine her gender. Instead, we ended up quite concerned when the ultrasound discovered an echogenic intracardiac focus (EIF), which is a small dot of calcified muscle in the heart that shows up as a bright dot in the ultrasound. EIF is a soft marker for certain types of genetic abnormalities, which means that it is correlated with about a 5x increase in certain chromosomal problems. However, what we learned by doing our own research, which our ultrasound tech did not tell us, is that the incidence of EIF for Asian American woman is as high as 30% of all pregnancies. Once there is one soft marker, we were given the option of having a Level II ultrasound, which is a more thorough ultrasound than a Level I ultrasound. We did this at Stanford Hospital, which takes care of many high risk patients.
At the L2 ultrasound, we were told that there was an additional soft marker – a choroid plexus cyst, which is essentially an air bubble that forms as the brain folds around itself. All babies have CPCs, but they generally disappear before the timing of the second ultrasound. At this point, we were given the option of having a genetic counseling appointment (where they discuss risks and options, such as terminating a pregnancy) and also offered the option of an amniocentesis, which has a miscarriage rate of 1 in 150 to 1 in 300.
Around that time, we also got our bloodwork testing back (AFP and triple test) which tests for hormonal and protein levels in the maternal blood, and independently assigns a risk level for genetic abnormalities like Down’s Syndrome. Thankfully, Mimi’s bloodwork put her in the very minimal risk range – ultimately, the “math” indicated that her bloodwork results coupled with the higher correlation due to the 2 soft markers gave a risk incidence of approximately 1 in 1000.
One of the things we learned through this whole experience is how easy it is to be caught up in fear that something will go wrong in the pregnancy. Being pregnant for the first time already heightened our anxiety level, and it was very easy to stress out over the test results. We ended up having to do quite a bit of research to put the whole thing in perspective. If you read the message boards at popular parenting websites, like babycenter.com, you’ll find a lot of parents despairing about some of these types of ultrasound results. It is very understandable – you get a lot of medical jargon with very little context and very little help to properly interpret what is going on. What was particularly disturbing was how readily an amniocentesis was offered – though it is considered a relatively safe procedure, the odds of harm coming from an amnio was much higher than the real risk of developmental problems to our baby – but that’s something the parents have to figure out for themselves. We also learned that there is a fair amount of disagreement in the medical literature about whether it is worthwhile to even escalate to L2 ultrasounds for these soft markers, or even inform the patients, because it tends to cause incredibly disproportionate anxiety for what is essentially minimal risk. 15 or 20 years ago none of the ultrasounds were sensitive enough to detect these soft markers, and so it never became an issue.
In the end, going through this ordeal taught us the importance doing research for ourselves, not letting test results scare us without proper context, and ultimately, to have greater trust in God to provide for us throughout the pregnancy. God doesn’t promise that a child won’t be a special needs child, and testing can be valuable for identifying real issues and helping parents to prepare to care for their child’s needs. However, when testing does not provide concrete information, it can very easily lead to unhealthy anxiety, and that’s something we had to give over into God’s hands.
