How To Find Out If My Baby Has Down Syndrome

If you notice an upward slanting of your baby’s eyelids, your child may have Down Syndrome.

Perhaps you also noticed that their tongue tends to stick out of their mouth longer than expected. 

So you’re wondering if this is a usual development phase your child will have to go through or if something else is in the mix, something more complicated. 

If that sounds like you, the best move is to see a doctor for clarification.

The second best move is to get educated. However, chances are, you already feel overwhelmed with the torrents of information from experts – you are not even sure what works.

And that’s why we’re here – to help you make sense of the situation – to provide a quick guide to finding out if your child has Down Syndrome.

That’s said, let’s dive right into it.

What Is Down Syndrome?

A French physician in 1959, Jerome Lejeune, identified Down Syndrome as a genetic condition that occurs when an infant is born with an additional chromosome.

Chromosomes are thread-like structures made of protein and a single DNA molecule that carry genetic information from cell to cell.

This information is essential in a baby’s development because it determines its physical outlook to an extent.

The extra chromosome changes how the baby’s body and brain develop, affecting the baby’s physical appearance and mental development.

A typical baby is born with 46 chromosomes, while a baby suffering from Down Syndrome has 47 chromosomes.

Causes of Down Syndrome

Studies brought forward by the National Down Syndrome Society (NDSS) show that approximately 1 in every 772 babies in the united states has Down Syndrome, and an estimated 5100 babies are born with Down Syndrome annually.

The leading cause of Down Syndrome is abnormal cell division during the development of sperm or egg cells.

Down syndrome occurs as a result of an extra chromosome 21. Instead of having the usual two copies of chromosomes, the baby gets three copies.

Research carried out by the Down Syndrome Institute of Health, And Development proves that older women of about 35 years and above are at a higher risk of having babies with Down Syndrome because the likelihood that an egg will contain an extra copy of a chromosome increases with age.

Going further, parents who have earlier had a child with chromosomal disabilities also stand a higher chance of having more children with Down Syndrome.

Demographic factors also affect a child’s risk of being born with Down Syndrome.

People with genetic translocation are also likely to have babies with Down Syndrome.

Genetic translocation occurs when a piece of one chromosome breaks and attaches to another chromosome.

Types of Down Syndrome

In 1959, Lejeune noted the types of Down Syndrome. There are three types of Down Syndrome, namely;

Trisomy 21 (Nondisjunction)

How To Find Out If My Baby Has Down Syndrome
Source: NDSS

Trisomy 21 is also called nondisjunction. And it is considered the most common type of Down Syndrome in the United States, accounting for 95% of all cases.

It occurs when every cell in the body has three copies of chromosome 21 rather than the usual two.

Mosiac Down Syndrome (Mosaicism)

How To Find Out If My Baby Has Down Syndrome
Source: NDSS

Mosaicism refers to rare cases when there is a mixture of two types of cells where some contain the usual 46 chromosomes, and others have 47 chromosomes. The cells with 47 chromosomes are the ones that include an extra chromosome 21.

Among the various types of Down Syndrome, Mosaicism is the rarest of them all, with a statistic of 2% in all cases of Down Syndrome in the United States.

Furthermore, research shows that people with Mosaicism tend to have lesser indications of Down Syndrome when compared to other types of Down Syndrome.

Translocation Down syndrome

Translocation Down Syndrome accounts for about 3% of cases of Down Syndrome in the United States, making it the second-rarest Down Syndrome after Mosaicism.

In cases of Translocation Down Syndrome, the total number of chromosomes in the cell remains at 46, but each cell has part of an additional chromosome 21 or an entirely extra one.

This extra chromosome is usually attached to another chromosome (usually chromosome 14) rather than on its own.

How To Find Out If My Baby Has Down Syndrome

How To Find Out If My Baby Has Down Syndrome

Researchers noted that the signs and symptoms of a child with Down syndrome might vary from another child suffering from the same syndrome because there are various types of Down Syndrome.

Your baby tends to look physically different from other normal children.

That said, here are some signs you should look out for if you want to find out if your baby has Down Syndrome:

  • A flattened face, mainly the bridge of the nose
  •  A large gap between their first and second toes
  •  Almond-shaped eyes that slant up
  •  A short neck
  •  Small ears
  •  A tongue that tends to stick out of the mouth
  •  Tiny white spots on the iris (colored part) of the eye
  •  Small hands and feet
  •  A single line across the palm (palmar crease)
  •  Little pinky fingers that sometimes curve toward the thumb
  •  Poor muscle tone or loose joints
  •  Shorter in height as children and adults.
  •  Babies with Down Syndrome are usually slower to speak than other children.

A doctor can quickly tell if a baby has Down Syndrome after birth by looking at the baby’s physical appearance.

But a laboratory test such as a blood test can confirm if or not your baby is suffering from the syndrome.

As a result of technological advancement, Down Syndrome in babies can be detected earlier from their mother’s womb.

Speaking with some mothers with babies who have Down Syndrome shared their experiences on how they found out their babies were suffering from this syndrome.

Annabel, with a 3-year-old baby, said she didn’t know what Down Syndrome was and how it could affect a child until she had her second child and noticed his head was not the usual size of a toddler’s head.

She further stated that his head was flat, and she thought it was not something worth thinking about until she noticed the color of her child’s iris.

In a similar interview, Kemi, a mother of three, also noted that she noticed her baby’s speech was not normal, and he didn’t start talking at the right time he was supposed to.

Things To Expect From Babies With Down Syndrome

Most babies with Down Syndrome have Atlantoaxial Instability(AAI), which means their first two vertebrae are unstable; therefore, parents/caregivers of such babies should handle them with extreme care.

Also, note that babies with Down Syndrome will require special health care because they have a higher risk of having health complications.

How To Prevent Down Syndrome During Pregnancy

  • Mothers should avoid harmful substances and alcohol during pregnancy.
  •  Folic acid is advised: Adequate intake of folic acid during pregnancy is believed to protect against neural tube defects(NTDS) in babies, which may help prevent the possibility of your baby having Down Syndrome.
  •  Diabetes should be kept under control.
  •  Most importantly, speak to a doctor.

Autism and Down Syndrome

Some persons mistake Autism for Down Syndrome, but there is a difference.

Most autistic children are hardly social and may face difficulties communicating in social situations. Some autistic children do not speak at all.

But on the other hand, children with moderate Down Syndrome understand social cues and communicate much more effortlessly. However, they may speak late.

Also, it’s important to note that about 20% of babies with Down Syndrome are also autistic.

Frequently Asked Questions

Does Down Syndrome Start From Birth, Or Does It Develops Later?

Down syndrome starts from birth due to the extra chromosome 21 and does not develop later.

Irrespective of the fact that Down Syndrome can be detected during early pregnancy, the extra chromosome 21 can’t be removed from the cell.

However, some children with Mosaic Down syndrome do not look like they have Down syndrome because the usual physical features are not noticeable.

Is Down Syndrome Curable?

No, it is not. Instead, consider it a lifelong condition that can be improved (under the proper condition) as the child ages.

Self-care and early treatment programs, which include physical therapy and occupational and speech therapy, can help improve the condition.

Can A Down Syndrome Baby Live Long?

Yes, they could live up to 60 years and beyond with the proper care. They are just like every normal baby with slight differences.

However, in the 1940s, a Down Syndrome baby had a life expectancy of 12 years.


Down syndrome is usually associated with physical growth delay, mild to moderate intellectual disability, and characteristic facial features.

It is one of the most expected genetic problems that can occur in pregnancy and is also known as ‘Trisomy 21’.

Down Syndrome is likely to have a direct link with the increase in stress level during conception,’ says Sureka Ramachandran, a founder of the Down Syndrome Federation in India.

The mental abilities of babies with Down Syndrome vary, but most children with the syndrome have moderate issues with thinking, reasoning, and understanding.

They can learn and pick up new skills, but reaching fundamental goals like talking, walking, and developing social skills may take longer.

They have serious problems with the hearing part of their brain, making it hard for them to speak correctly.

However, the language development of babies with Down Syndrome is similar to that of a typically developing child.

Presently, there is no cure for Down Syndrome, but proper care, therapy, and education can significantly improve the quality of their lives.

Bonus point: Folic acid intake during conception could prevent a mum from having a baby with Down Syndrome.

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