Down’s syndrome


Congratulations on the birth of your baby!

We are aware that during this joyous time, the diagnosis of Down’s Syndrome (Trisomy 21) might cause you concern.  Hence, we created this leaflet to give you some information to take home in addition to all the explanations by our professionals.

What is Down’s syndrome?

Down's syndrome is the most common chromosomal condition in humans and babies with Down’s syndrome are born worldwide to parents of all races, religions and status.  Nothing you did before or during pregnancy caused your baby to have Down’s syndrome.
Down’s syndrome is a genetic condition caused by an extra chromosome in your baby’s cells.  Chromosomes contain genes which determine our physical traits and how our body functions.
Usually 2 copies of every chromosome are present in our cells but people with Down’s syndrome have 3 copies of chromosome 21.
This extra chromosome can affect your baby’s development, learning and health in different ways. It cannot be cured but treatment and support can help babies, children and adults with Down's syndrome to lead a fulfilling life.

How is it Diagnosed?

The diagnosis of Down's syndrome is confirmed by a genetic blood test that looks at the number of chromosomes (karyotype) in the blood cells of your baby.  The laboratory will especially look for an extra chromosome 21.
This test is done as soon as possible if your health care provider suspect Down’s syndrome after discussion with you and once your consent is obtained.

What are the features of Down’s syndrome?

There are some facial and other physical features that are typical in people with Down's syndrome such as central or flat, with up slanting eyelids, protruding tongue, small ears and a short neck. There are also certain medical conditions that can affect someone with Down's syndrome more than someone without.  However, not all people with Down's syndrome will have all of these features or conditions. Everyone with Down's syndrome is different!

Just like all babies, your baby will have a thorough examination after birth. If any issues are discovered, we will tell you about it, answer any questions you might have and make sure your baby will be referred to the appropriate specialist. Some of the health conditions that might be discovered could include:

  1. Heart:
    Around half of babies with Down's syndrome will have a congenital heart problem. Therefore, all babies with Down's syndrome will have a thorough examination of their heart – including an ultrasound scan, called an echocardiogram. Sometimes other heart problems can develop later in life; therefore, a regular check-up of the heart is needed.
  2. Digestive System:
    Up to 12% of babies with Down’s Syndrome have congenital malformations of their gastrointestinal tract, sometimes these are discovered antenatally. Following birth, your baby will have a thorough examination to assess for any problems.
  3. Vision/Hearing conditions:
    It is important that vision and hearing problems are detected and treated before they affect language and learning skills. Your baby will be assessed at birth and followed up by Audiology (hearing doctor) and Ophthalmology (eyes doctor) teams.
  4. Blood conditions:
    Babies with Down’s syndrome may be more likely to have a temporary excess of red blood cells, this may lead to jaundice (yellowish skin). Some babies with Down’s syndrome may have low levels of platelets (those cells in the blood which help it clot).  This is usually only for a limited period of time.
    5-30% of babies with Down’s syndrome have congenital leukemia- this is called transient Leukemia of Down Syndrome (TL-DS). It is important to identify this so a blood test will be taken after your baby is born to look at the red blood cells.
  5. Feeding difficulties:
    Your baby may have difficulties in feeding due to low muscle tone and may have other digestive issues.
    Midwifes, nurses and therapists may all have a role in helping you successfully feeding your baby.
  6. Other health conditions:
    Some medical conditions may happen more frequently in babies and children with Down’s syndrome.  These include hypothyroidism, seizure disorders, breathing problems, obesity, an increased chance of infections, a higher risk of childhood leukemia and an unstable upper spine.
    Fortunately, many of these conditions are treatable and, therefore, knowing about those early is important.  Hence, screening is essential throughout your baby’s child’s life.

Vaccinations and Screening:

All routine immunizations are important and help protect your baby.  Down’s Syndrome is no contraindication for routine vaccinations!

Support for development:

Babies with Down’s syndrome tend to be quite floppy (hypotonic). Feeding challenges, delayed speech development and delay in development (sitting, crawling, walking, potty training, etc) can occur.
Down’s syndrome affects ability to learn in different ways but babies and children can and do learn, and are capable of developing skills throughout their lives. They simply reach goals at a different pace.
Early intervention programmes from birth are important for a baby born with Down's syndrome. The earlier that such help and care are given for any issues, the better the long-term outcome is likely to be and the more likely that person is to reach their full potential.
A team of different healthcare practitioners are likely to be involved in the care of your baby in hospital and after discharge to help support you and your baby together as a family.


It's important not to compare your child with Down’s syndrome against typically developing siblings or even other children with the condition.