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Causes of Down Syndrome Babies in Pregnancy

The cause of mothers carrying babies with Down syndrome is not yet known with certainty. However, several factors are thought to increase the risk of pregnant women giving birth to children with this condition, ranging from genetic disorders, heredity, to unhealthy habits.

Down syndrome is a disease that makes sufferers have learning difficulties, growth and development barriers, as well as distinct physical forms.

Some physical features possessed by Down syndrome sufferers include the short neck, small head size, slightly flat face, distinctive eye shape, short body, and short fingers. Some children born with this condition also suffer from congenital heart disease, hearing loss, and thyroid problems.

How does Down syndrome occur?

About 4% of children with down syndrome (DS) have two full copies and 1 partial copy of chromosome 21 that attaches to different chromosomes, referred to as translocation Down syndrome. Translocation Down syndrome is the only type of DS that can be inherited from one parent. However, only one-third of the cases of DS were transferred from one parent.

A carrier may not show signs or symptoms of DS, but he can reduce the process of translocation to the fetus, causing additional genetic material from chromosome 21.

The risk of decreasing DS translocation will depend on the sex of the parent of chromosome 21 that has been rearranged:

  • If the father is a carrier, the risk of DS is around 3%
  • If the mother is a carrier, the risk of DS ranges from 10-15%

What Causes Mother to Contain Down Syndrome Baby?

Down syndrome occurs due to genetic disorders that cause DNA components to form abnormally. This causes the growth and function of organs of the fetus to be abnormal.

Unfortunately, until now it has not been known exactly what causes the fetus to experience these abnormalities. Nevertheless, several studies have found that several factors can increase the risk of a woman giving birth to a child with this genetic disorder, namely:

1. Pregnant at an older age

The risk of a mother carrying a Down syndrome baby will increase with increasing age during pregnancy. Some studies state that the risk of giving birth to a baby with Down syndrome will be higher in pregnant women over the age of 35 years.

This may be because the older a woman's age, the quality of her eggs will decrease so that it can cause interference with the formation of genetic components during fertilization.

However, this cannot be used as the main benchmark, because of not a few pregnant women under the age of 35 who gave birth to children with Down syndrome.

2. Have a history of giving birth to a child with Down syndrome

The risk of a mother carrying a Down syndrome baby will also increase if she has previously given birth to a baby suffering from this condition. Although very rare, Down syndrome can also be inherited from parents.

Therefore, periodic pregnancy checks are needed to determine whether there are genetic abnormalities in the fetus that indicate the presence of Down syndrome.

3. Smoking and consuming excessive alcohol while pregnant

Pregnant women who often consume alcohol or smoke are also said to have a higher risk of conceiving babies with Down syndrome. This is suspected because both of these bad habits can make the genetic component or DNA of the fetus more susceptible to damage and are not formed properly, resulting in Down syndrome.

4. Frequent exposure to pollution and toxic substances

One risk factor that is thought to contribute to causing a fetus to develop Down syndrome is exposure to pollution and toxic substances during pregnancy. This pollution exposure can occur when pregnant women inhale cigarette smoke, motor vehicles, or factory smoke.

While toxic substances that are thought to increase the risk of Down syndrome are from pesticides, factory waste, to heavy metals, such as arsenic, lead, and mercury.

5. Malnutrition during pregnancy

Adequate nutrition plays a very important role in a healthy pregnancy. This also applies to reduce the risk of Down syndrome in the fetus.

According to some health research, mothers who lack certain nutrients, such as folate, protein, iron, vitamin D, and omega-3s, are said to be at higher risk for giving birth to babies with Down syndrome.

Because some of the above can increase the risk of a baby having Down syndrome, pregnant women need to avoid it. Also, do a routine obstetric examination of the doctor.

How do I know if I have a Down syndrome baby?

The American College of Obstetricians and Gynecologists recommend that doctors run prenatal screening and diagnostic tests for DS and other genetic disorders for patients who are at high risk of DS. However, now all doctors are expected to recommend these two tests for all women who are planning a pregnancy.

During weeks 11-14 of pregnancy, the doctor will run a blood test combined with ultrasound, which checks the thickness of the fetal back neck (nuchal translucency). Both of these procedures can detect DS up to 82-87 percent, with minimum risk to yourself and also the fetus.

If you are 35 years or older and are known to have other risk factors, your doctor will also recommend you to carry out a fetal DNA test during the first trimester of pregnancy. This test has a 99 percent accuracy rate of results because this test will sort the small parts of your fetal DNA that circulate in your blood during pregnancy.

In your second trimester, another blood test (multiple marker screening, or quad screening) can detect DS up to 80% accuracy.

If one of these tests indicates high risk, you can run diagnostic tests, such as amniocentesis or chorionic villus sampling (CVS). It should be understood that both of these procedures carry the risk of miscarriage, even though they are relatively low.

Down syndrome cannot be prevented

Determining whether you want to screen or not is a personal choice that concerns not only your future but also your baby. However, this series of tests can also help your doctor to know for certain whether the fetus in your womb has other potentially life-threatening issues, such as congenital heart disease.

Whether or not the risk of your baby suffering from Down syndrome, understand that DS has occurred before fertilization takes place.

There is nothing you can do during pregnancy, which will increase or prevent your baby's risk of developing the Down syndrome. The best thing you can do is to adopt a healthy diet, take prenatal vitamins, and enrich your knowledge about Down syndrome to prepare yourself for all possibilities.



  1. Parent. Are You at Risk of Having a Baby With Down Syndrome? 
  2. Mayo Clinic. Down Syndrome.
  3. National Institutes of Health (2019). U.S. National Library of Medicine Genetics Home Reference. Down Syndrome. 
  4. Centers for Disease Control and Prevention (2018). Birth Defects. Facts About Down Syndrome. 

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