For many expecting parents, prenatal ultrasounds are an exciting and fun experience to look forward to during the course of routine prenatal care. You might anticipate finding out the sex of your baby and the weeks of preparation that will ensue, or seeing the baby’s face and getting cute pictures to share with relatives. But ultrasound examinations can also reveal findings that are unexpected or foreign sounding to patients. Nowadays, ultrasound technology is quite advanced, and the high resolution allows doctors to evaluate pregnancies at a high level of detail. Soft markers are one example of an ultrasound finding that we see commonly in pregnancies of all women, both low and high risk.
A soft marker is a fetal sonographic finding that is not an abnormality of development and generally has no negative impact on the baby’s health. It does, however, increase the likelihood (odds) of there being an underlying diagnosis, such as Down syndrome, in the pregnancy. We know that soft markers increase the chances of there being an underlying condition in pregnancies because studies have shown that they are seen more frequently in pregnancies affected with various syndromes as compared to unaffected pregnancies. Different soft markers are correlated with different conditions. It is estimated that a soft marker is noted in approximately 7 percent of all pregnancies, and they can be noted at any gestational age. Another way to think about this statistic is to consider that, on average, 1 out of every 14 pregnant women will be informed of a soft marker noted on prenatal ultrasound. Learning of any unexpected finding on ultrasound is often scary and confusing for parents to be. However, knowing ahead of time that soft markers are common, and that most of the time babies with soft markers are born completely healthy, can help patients feel reassured about such findings.
When a soft marker is noted on ultrasound, your doctor or ultrasound technician will inform you of the finding and will likely offer for you to meet with a genetic counselor to provide you with more information. Genetic counselors meet with patients about topics that range from very minor and harmless to ones of greater significance. We feel that it is important to provide all patients with thorough information and a discussion of testing options if warranted, no matter how small the indication. So, it is important to know that just because you are recommended to meet with a genetic counselor, does not mean that there is anything wrong with your pregnancy.
Hopefully this post will help put into perspective a topic that, while common, can be challenging for some patients. The staff and providers at PANM are always here to help address your concerns and help ensure that your pregnancy goes as smoothly as possible.
-Alex Yragui, GC