Understanding the ultrasound experience and prenatal information 

An ultrasound appointment can be a special experience for expectant parents! You’ll have the opportunity to connect with your growing family and perhaps learn so much more about your baby, including your baby’s fetal sex. However, these scans are primarily tools used to check in on your little one's growth and development. During an ultrasound, your practitioner or ultrasound technician may mention something called "soft markers.” And a quick search of the term can lead you down a rabbit hole of overwhelming and differing clinical information. But not to worry! In this blog, we'll explain what soft markers are and what they might mean for you and your pregnancy to hopefully offer you peace of mind as you continue your pregnancy journey.

Expectant parents looking at an ultrasound to receive vital prenatal information so that they can make informed decisions about their pregnancy

What are soft markers?

Soft markers are fetal ultrasound findings, such as variations in the size, shape, or blood flow to specific fetal structures, that are generally not considered harmful on their own but may be associated with a slightly increased chance for certain chromosomal or genetic conditions.  These findings are called “soft” markers because they aren’t definite signs of a problem or issue- any baby can have them! And in many cases, soft markers are transient or temporary findings that resolve on their own and do not have a lasting impact on the baby’s health. 

Some common examples of soft markers include:

  • Choroid Plexus Cysts (CPC): These are small fluid-filled cysts in the fetus' brain that can be seen on an ultrasound. The cysts themselves are considered harmless, and CPCs are seen in 1 to 2 percent of normal fetuses; however, in rare cases, they may be associated with trisomy 18 (Edwards syndrome).
  • Echogenic Intracardiac Focus (EIF): This is a small white spot in the fetus' heart that can be caused by calcium deposits. An EIF is a relatively common finding seen in 5-7% of normal pregnancies and can be more frequent in the Asian population. However, if an EIF is seen in combination with additional ultrasound findings, the risk for Down syndrome (trisomy 21) may be increased. 
  • Thickened Nuchal Fold: The nuchal fold refers to the fold of skin located at the back of a baby’s neck that is routinely measured during a second-trimester anatomy ultrasound. A nuchal fold >6 mm is generally considered thicker than average and can indicate an increased chance for chromosomal or genetic conditions such as Down syndrome (trisomy 21) or Noonan syndrome. 
  • Short Femur or Humerus Bones: If the fetus' bones measure lower than the 5th percentile for their gestational age, it may suggest an increased chance for a growth condition, such as skeletal dysplasia, or a chromosomal condition such as Down syndrome (trisomy 21). 

What to Expect if Soft Markers are Found

If your doctor sees soft markers during an ultrasound, they may suggest further diagnostic testing, such as amniocentesis or chorionic villus sampling (CVS). Your provider may also recommend a non-invasive prenatal screening (NIPS, also called a NIPT) if that screen hasn’t yet been performed. This non-invasive option offers expectant parents vital prenatal information early on so that they can make informed decisions about their pregnancy.

Hazel™ Non-Invasive Prenatal Screening

The Juno Hazel™ screens for common genetic conditions, such as trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), as early as 9 weeks into your pregnancy. Designed for your convenience, our at-home test kits allow you to collect your sample and receive your results from the comfort and privacy of home. You can now learn about your baby on your terms, on your time, surrounded by those you love and trust. And with a screening process offering results with greater than 99% sensitivity and 99.9% specificity, you can have peace of mind about your baby's health even if soft markers are present in an ultrasound. 

And don’t just take our word! We recently sat down with Claudia, a Juno community member and patient, to discuss her experience handling a soft marker finding and how she felt better equipped to manage the anxiety that comes with such a discovery with the assistance of a Hazel™ NIPS. Click here to watch our full interview: Things to Know With Juno 

Juno Hazel uses next-generation sequencing to perform non-invasive prenatal screening (NIPS), also referred to as NIPT.

Staying calm and informed

Regardless of whether a soft marker is found during an ultrasound, it's always important to remember that these are common findings that are often just normal variations. Soft markers are just markers, not a diagnosis. Still, this finding can be incredibly scary. You may feel overwhelmed and anxious, and those emotions are valid. We see and hear you. 

If your ultrasound shows soft markers or if you have any concerns about your ultrasound results, it's always a great idea to speak with your doctor and get more information. Your doctor or practitioner may recommend further testing, but it's really up to you to decide what's best for you and your pregnancy. As an expectant parent, staying informed about all aspects of your pregnancy is essential. Juno Diagnostics and our team of scientists, genetic counselors, and customer care experts are here to support you and your pregnancy journey.

To learn more about the benefits of Juno’s non-invasive prenatal screening tests, click here: Hazel™ NIPS

Please note: JunoDx.com and the materials and information it contains are not intended to, and do not constitute medical or other health advice or diagnosis and should not be used as such. You should always consult with a qualified physician or health professional about your specific circumstances. 

February 03, 2023 — Juno Diagnostics