What is Mosaic Down’s syndrome?

Karolina Baker, Alphabiolabs

By Karolina Baker, Health Testing Specialist at AlphaBiolabs
Last reviewed: 05/10/2023

Mosaic Down’s syndrome is a rare form of Down’s syndrome. In this article, we look at all aspects of Mosaic Down’s syndrome, including its characteristics, how common it is, what can cause it, and whether it is hereditary.

What is Down’s syndrome?

Down’s syndrome is often characterised as having a full or partial extra copy of chromosome 21 and is sometimes referred to as Trisomy 21. It is one of the most common chromosomal conditions at birth and affects approximately 1 in 1,000 births worldwide. This means that each year in the UK, around 700 babies are born with Down’s syndrome.

(Source:  National Center on Birth Defects and Developmental DisabilitiesCenters for Disease Control and Prevention)

The presentations of Down’s syndrome can vary drastically. Individuals with Down’s syndrome have mild to moderate intellectual disability, characteristic facial features, and may have treatable medical conditions, such as congenital heart defects, low muscle tone, and low thyroid levels.

Nevertheless, many individuals with Down’s syndrome lead healthy and active lives. As our understanding of Down’s syndrome continues to grow, the clinical and social management of the condition improves – allowing many individuals to have jobs, relationships and even live independently.

Different types of Down’s syndrome

There are three different types of Down’s syndrome. People living with all three types of Down’s syndrome show similar presentations in terms of intellectual disability and physical features.

Trisomy 21

Trisomy 21 is the most common form of Down’s syndrome and occurs when a person has a full, separate, extra copy of chromosome 21. It accounts for 95% of people with Down’s syndrome.

Mosaicism

In around 2% of people with Down’s syndrome, individuals will have an extra copy of chromosome 21 in some, but not all of the cells in their body. This is known as mosaic Down’s syndrome.

Translocation

The remaining 3% of Down’s syndrome cases are caused by having an extra critical part of, or an extra whole copy of chromosome 21 that has become attached to another chromosome, rather than existing as its own extra chromosome.

What is mosaic Down’s syndrome?

Mosaic Down’s syndrome is a rare form of Down’s syndrome. The clinical term ‘mosaicism’ is used to describe a person who has two genetically different types of cells. This means that a person with mosaic Down’s syndrome has some cells that contain an extra copy of chromosome 21, and some cells with the normal number of chromosomes.

People with mosaic Down’s syndrome show similar presentations to those with the common form of Down’s syndrome, in terms of intellectual disability and physical features. However, in mosaic Down’s syndrome the percentage of cells containing an extra chromosome may have an effect on the number and severity of Down’s syndrome characteristics present.

How common is mosaic Down’s syndrome?

Mosaic Down’s syndrome accounts for only around 2% of Down’s syndrome cases. It is the rarest form of Down’s syndrome and, in the UK, around 14 babies are born with mosaic Down’s syndrome every year.

What causes mosaic Down’s syndrome?

Mosaic Down’s occurs by a random chance event that occurs shortly after the sperm cell joins with an egg. It is therefore not hereditary, and anyone of any age can have a baby with mosaic Down’s syndrome.

Is mosaic Down’s syndrome hereditary?

Mosaic Down’s syndrome occurs by chance and therefore does not run in families. Mosaic down’s syndrome is a random event that occurs shortly after the sperm cell joins with an egg. It is therefore not hereditary, and anyone of any age can have a baby with mosaic Down’s syndrome.

However, it is important to note that the risk of having a child with Down’s syndrome in general increases with maternal age. This means that older women have an increased chance of having a pregnancy that is affected by Down’s syndrome.

Paternal age is also known to influence the incidence of Down’s syndrome, but only in pregnant women aged 35 and over.

What are the characteristics/features of mosaic Down’s syndrome?

People living with the mosaic form of Down’s syndrome show similar presentations to everybody else with Down’s syndrome in terms of intellectual disability and physical features. However, the severity and number of Down’s syndrome characteristics may be reduced, depending on the percentage of cells that contain an extra chromosome.

On the whole, the severity of Down’s syndrome can vary drastically, but all people with Down’s syndrome have some degree of learning disability. There are several medical conditions that are more common in people with Down’s syndrome, including problems with the heart, hearing, vision, bowel problems and an increased likelihood of infections.

Physical characteristics

The physical features of Down’s syndrome include:

  • Shorter than average height
  • Shorter than average neck
  • Flattened facial features
  • Eyes that slant upward
  • Small ears, hands and feet
  • A tongue that tends to stick out of the mouth
  • Palmar Crease – a line across the palm of the hand
  • Low muscle tone (hypotonia) or loose joints

Developmental and behavioural characteristics

Developmental and behavioural features of Down’s syndrome include:

  • Slower than average to meet developmental milestones such as talking and walking
  • Mild to moderate intellectual disability
  • Problems with verbal memory
  • Expressive communication
  • Short attention span
  • Children with Down’s syndrome tend to be more impulsive and stubborn
  • Children with Down’s syndrome tend to have strong social skills

Medical complications

There are several medical conditions that are more common in people with Down’s syndrome.

These can include:

  • Around half of children born with Down’s syndrome are affected by a heart condition
  • More than half of children born with Down’s syndrome have vision problems
  • Up to three quarters of children with Down’s syndrome have some degree of hearing loss
  • Children born with Down’s syndrome are more susceptible to Autism
  • Adults with Down’s syndrome may develop dementia at a younger age

However, a huge amount of support is available to help people with Down’s syndrome live fulfilling and healthy lives.

What is the life expectancy for people with Down’s syndrome?

The life expectancy for people with Down’s syndrome has increased dramatically as our knowledge and understanding of the condition has grown.

In 1960 the life expectancy of a person with Down’s syndrome was only 10 years.

Today, the life average expectancy of an individual with Down’s syndrome is almost 60 years, and this figure is continuing to climb.

Source: Down Syndrome Life Expectancy Is Higher, But Not For Everyone (nationwidechildrens.org)

What is the treatment for Down’s syndrome?

The severity and presentation of Down’s syndrome varies drastically between individuals with Down’s syndrome. Therefore, there is no single standard treatment for Down’s syndrome. Treatments are based on each individual’s medical, developmental and intellectual needs.

What can impact the probability of having a child with Down’s syndrome?

The risk of having a child with Down’s syndrome increases with maternal age. This means that older women have an increased chance of having a pregnancy that is affected by Down’s syndrome.

For example, a 35-year-old woman has a 1 in 350 risk of having a pregnancy affected by Down’s syndrome, and this risk increases year-on-year, whereby the risk at the age of 45 increases to around 1 in 30:

Maternal Age Incidence of Down’s syndrome
20 1 in 2,000
21 1 in 1,700
22 1 in 1,500
23 1 in 1,400
24 1 in 1,300
25 1 in 1,200
26 1 in 1,100
27 1 in 1,050
28 1 in 1,000
29 1 in 950
30 1 in 900
31 1 in 800
32 1 in 720
33 1 in 600
34 1 in 450
35 1 in 350
36 1 in 300
37 1 in 250
38 1 in 200
39 1 in 150
40 1 in 100
41 1 in 80
42 1 in 70
43 1 in 50
44 1 in 40
45 1 in 30
46 1 in 25
47 1 in 20
48 1 in 15
49 1 in 10

Other risk factors include being a carrier of a genetic translocation for Down’s syndrome. Men and women can carry this genetic predisposition asymptomatically.

Paternal age is also known to influence the incidence of Down’s syndrome, but only in pregnant women aged 35 and over.

Parents who have has one child with Down’s syndrome are slightly more likely to have  another child with Down’s syndrome.

How can I get Down’s syndrome screening during pregnancy?

A screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome is available at 10-14 weeks of pregnancy.

The screening test that is most widely available is known as a combined test. The combined test comprises of a blood test and an ultrasound scan. The blood test looks at markers found in the blood that can indicate an increased chance of carrying a baby with a chromosomal disorder. The ultrasound scan is used to determine something known as the ‘nuchal translucency’.

The results of both of these tests are used along with the age of the pregnant woman to determine the risk of carrying a foetus with Down’s syndrome, Edwards’ syndrome or Patau’s syndrome.

In the case of a high-risk result from the combined test, the pregnant woman will be offered the chance to receive NIPT, which is another screening test, or diagnostic testing, which may be an amniocentesis or chorionic villus sampling (CVS).

Amniocentesis and CVS will provide a definite answer as to whether or not the baby has Down’s syndrome, Patau’s syndrome or Edwards’ syndrome, but in rare cases amniocentesis and CVS can cause a miscarriage. Therefore, many pregnant people are choosing to take a NIPT screening test privately, as it is available to all expectant mothers, irrespective of whether they were classified as high-risk by the combined test.

To perform NIPT and CVS/amniocentesis, foetal DNA must be obtained for analysis. Foetal DNA is traditionally acquired through invasive sampling methods such as amniocentesis or CVS.

Amniocentesis involves a long, thin needle that is inserted through the abdomen (stomach) to obtain a sample for testing. For CVS, a needle is inserted into the womb to obtain a sample of cells. Both procedures are invasive and increase the risk of pregnancy loss. This increased risk of miscarriage is often a dilemma, and many pregnant women therefore opt for NIPT as their initial screening test.

The AlphaBiolabs NIPT test only requires a blood sample, which can be provided by any expectant mother in the first trimester, from 10+ weeks gestation.  It is not restricted to just those who received a high-risk result from the combined test.

The AlphaBiolabs NIPT test is a laboratory test which detects 97.2%-100% of trisomies in singleton and twin pregnancies. The AlphaBiolabs NIPT test can also provide foetal sex determination, which is not offered by the NHS. With results available in in 5-7 working days, you can get results much faster than the traditional testing pathway.

Traditional screening consists of multiple tests across the first and second trimesters, which can detect around 85% of babies with Down’s syndrome, and 80% of babies with Edwards’ or Patau’s syndrome.

Traditional Screening Tests AlphaBiolabs NIPT
Multiple procedures over the course of the first and/or second trimester Just one laboratory test at any time over 10 weeks gestation
Combined screening identifies around 85% of babies with Down’s syndrome and 80% of babies with Edwards’ or Patau’s syndrome The AlphaBiolabs NIPT test detects >99.9% of babies with Down’s syndrome, Edward’s syndrome and Patau’s syndrome
Reduced performance of screening in twin pregnancies Equivalent performance of screening in both twin and singleton pregnancies
Results are provided following several tests, which can take some time Results are provided within 5-7 working days
Can involve invasive methods that may harm the mother and baby and carry an increased chance of miscarriage Blood test taken from mother’s arm, posing no risk to mother or baby
No gender identification Gender identification available
Tests for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome only Can look for chromosomal changes in all 46 chromosomes
NIPT, if offered, is only offered to pregnancies determined as ‘high-risk’ by the combined test Can be taken by any pregnant person, irrespective of the risk status determined by the combined test

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Karolina Baker

Karolina Baker

Health Testing Specialist at AlphaBiolabs

Karolina joined AlphaBiolabs in 2021, and holds the role of Health Testing Specialist.

As well as overseeing a range of health tests, Karolina plays an active role in the research and development of the company’s latest health test offerings.

Before joining AlphaBiolabs, Karolina worked as an Associate Practitioner at Mid-Cheshire Hospitals NHS Foundation Trust, and as a research assistant at the Turner Laboratory, within the Faculty of Biology, Medicine and Health at The University of Manchester.

Karolina’s main scientific interests include clinical genomics and genetic diagnostics. Her qualifications include a BSc in Molecular Biology and an MSc in Genomic Medicine.

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