World Down Syndrome Day: What Are Soft Markers For Down Syndrome? How To Identify It In Your Baby?

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World Down Syndrome Day (WDSD) is observed on 21 March, every year. The day was initiated in the year 2006, where 21 May, the 3rd month of the year was specifically selected to signify the uniqueness of the triplication (trisomy) of the 21st chromosome which causes Down syndrome.

'With Us, Not For Us' is the theme for World Down Syndrome Day 2023. It is intended to convey that people with disabilities also have the right to be treated fairly and have the same opportunities as everyone else.

What Is Down Syndrome?

Down Syndrome is a condition where a child is born with an extra copy of chromosome 21. This condition is also known as Trisomy 21, where the extra copy of chromosome causes delayed or restricted growth and development [1].

Globally, according to the World Health Organization, Down syndrome is the most common disorder related to chromosomes, occurring between 1 in 1,000 and 1 in 1,100 live births.

There are three types of Down syndrome and they are trisomy 21, translocation and Mosaicism or mosaic Down syndrome.

What Are Soft Markers For Down Syndrome?

Soft markers are characteristics that may be observed during a mid-pregnancy ultrasound - typically around 16 to 20 weeks - and indicate an increased likelihood of foetal chromosomal abnormalities.

A soft marker for Down syndrome is a specific sonographic feature that is more likely to be seen in foetuses with Down syndrome. This feature is usually seen during an ultrasound in the second trimester [2].

The following are soft markers for Down syndrome [3]:

• Enlarged brain ventricles
• Smaller-than-normal or absent nasal bone
• Increased thickness of the nuchal fold
• Small, bright point on the heart
• Abnormality of the aortic arch
• Bowel that appears white on the ultrasound
• Mild kidney swelling
• Shortening of the humerus or femur bones

Will My Child Have Down Syndrome If There Are Soft Markers?

Although these markers are not necessarily indicative of Down syndrome, approximately 30% of babies with Down syndrome have these markers on their mid-pregnancy ultrasound [4].

Do Soft Markers For Down Syndrome Change?

There are a number of soft markers that either resolve or have no impact on the future health of a baby. However, certain soft markers may be related to chromosomal abnormalities such as Down syndrome [5].

What Is The Outlook For Foetuses With Secondary Markers For Down Syndrome?

Some soft markers for Down syndrome are more likely to be predictive of Down syndrome than others, but all soft markers may increase your child's likelihood of having Down syndrome [6].

When a foetus has only one soft marker, the risk of that foetus developing Down syndrome is only slightly increased, according to a 2013 meta-analysis on soft markers and Down syndrome.

In The Absence Of Soft Markers, How Likely Is It That Your Kid Will Have Down Syndrome?

During your second-trimester ultrasound, if no soft markers are found that are associated with Down syndrome, your chances of having a child with Down syndrome decrease by approximately 7.7 times.