Is Down’s Syndrome a Learning Disability?
What is Down’s syndrome?
Down’s syndrome is 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.
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.
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.
Down’s syndrome is the most common chromosomal condition 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. In Trisomy 21 pregnancies, there is an increased risk for miscarriage or stillbirth.
What is a learning disability?
A learning disability has been defined by the Department of Health and Social Care as:
“A significantly reduced ability to understand new or complex information or to learn new skills (impaired intelligence), with a reduced ability to cope independently (impaired social functioning) which started before adulthood, with a lasting effect on development.”
What is the difference between a learning disability and a learning difficulty?
Having a learning disability is different from having a learning difficulty. A learning difficulty is a reduced intellectual ability that is limited to a specific form of learning. Learning difficulties include dyslexia, dyspraxia and attention deficit hyperactivity disorder (ADHD). However, a person with a learning disability can also have learning difficulties.
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 might 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.
The AlphaBiolabs IONA® NIPT test only requires a blood sample, which can be provided by any expectant mother in the first trimester from 10+ weeks gestation, and not 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 IONA® 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 Tests||AlphaBiolabs IONA® NIPT|
|Multiple procedures over the course of the first and/or second trimester||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 IONA® NIPT test detects >99.9% of babies with Down’s syndrome, Edwards’ 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 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 at all, 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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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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