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Down, Edwards and Patau syndrome

In trisomy syndromes, the child's cells have three copies of a certain chromosome instead of just two. That already affects their development in the womb. Down syndrome, Edwards syndrome and Patau syndrome can be detected through prenatal testing.

Down syndrome (trisomy 21)

Down syndrome (also called Down's syndrome) affects different children in very different ways. Their personalities are just as varied as in other children. Even though they have certain special physical features and usually develop more slowly, they often only have minor disabilities and can do a lot of things that other people can do. Some live a more or less independent adult life. Others are more restricted and need more support. Many people with Down syndrome live to be 60 and over. It is not possible to say before birth how a child with Down syndrome will develop.

Edwards syndrome (trisomy 18)

Children with Edwards syndrome have deformities on their head, body and internal organs. These deformities can often be seen on ultrasound scans. Most children with Edwards syndrome have a severe heart defect. They have severe intellectual disabilities. They usually die when still in the womb or in the first few days after birth. About 10% of those born alive can live to five years or older. But that is mainly true for children with less severe deformities.

Patau syndrome (trisomy 13)

These children have various, mostly severe physical deformities that can also be seen on ultrasound scans. A lot of them have a cleft palate, and some have a small head too. They also have severe intellectual disabilities. They have a similar life expectancy to children with Edwards syndrome.

How common are trisomy syndromes?

The following table shows that trisomy syndromes are rare in pregnant women of all ages. But the risk increases with age. The most common trisomy syndrome is Down syndrome (trisomy 21).

Table: Prevalence of trisomy 21, 18 and 13 per 10,000 pregnancies, by age of pregnant woman
Age (years) Down syndrome Edwards syndrome Patau syndrome
20 – 24 years 8
out of 10,000 		2
out of 10,000 		1
out of 10,000
25 – 29 years 10
out of 10,000 		2
out of 10,000 		1
out of 10,000
30 – 34 years 17
out of 10,000 		3
out of 10,000 		2
out of 10,000
35 – 39 years 52
out of 10,000 		10
out of 10,000 		4
out of 10,000
over 40 163
out of 10,000 		41
out of 10,000 		10
out of 10,000

Illustrations: How often women of different ages become pregnant with a child with Down syndrome

 

How do trisomy syndromes affect family life?

There is no general answer to this question because it can vary greatly. It depends how well a child and their family are supported and how well they manage their lives together. The type of trisomy syndrome also plays a role.

Children with Down syndrome need special support – some more than others. Many of them develop well and are often very friendly, cheerful and happy people. Most children with Down syndrome learn everyday skills like reading and writing. Many parents say they have a pretty normal and fulfilling life with their children. It comes with certain challenges too, of course.

Early development support is important and – like with all children – so are close ties with family and other people. Most parents find a way to cope well with the special challenges. A number of support options can help here, such as early intervention centers, advice centers, welfare associations and parents’ associations. Health insurance providers and other institutions finance various support programs.

Children with Edwards syndrome or Patau syndrome always need intensive support. Their families often only have a few days with the child, or in rare cases a few months or years. It is still possible to have an enriching family life during that time, though.

Further information

You can find information about trisomy syndromes on many sites, including:

  • www.cdc.gov: General information about Down syndrome on the website of the Centers for Disease Control and Prevention
  • www.leona-ev.de: Germany-based support group for families with rare chromosome mutations (such as Edwards syndrome and Patau syndrome)

Institute for Quality and Efficiency in Health Care (IQWiG, Germany). Information for health insurance fund members on prenatal testing: Final report. Commission P17-01. Version 1.0. 2020.

IQWiG health information is written with the aim of helping people understand the advantages and disadvantages of the main treatment options and health care services.

Because IQWiG is a German institute, some of the information provided here is specific to the German health care system. The suitability of any of the described options in an individual case can be determined by talking to a doctor. informedhealth.org can provide support for talks with doctors and other medical professionals, but cannot replace them. We do not offer individual consultations.

Our information is based on the results of good-quality studies. It is written by a team of health care professionals, scientists and editors, and reviewed by external experts. You can find a detailed description of how our health information is produced and updated in our methods.

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Down, Edwards and Patau syndrome

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Created on July 7, 2022

Next planned update: 2025

Publisher:

Institute for Quality and Efficiency in Health Care (IQWiG, Germany)

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