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How is Down syndrome diagnosed?

Down syndrome is normally identifiable at birth by physical characteristics. To confirm this, a diagnostic blood test can be taken.

FAQ Frequently asked questions

What is Down syndrome?

Down syndrome, also known as Down's syndrome or trisomy 21, is a genetic condition. Normally our genetic make-up is comprised of 46 chromosomes, 23 from our mother and 23 from our father. In the case of Down syndrome, an extra chromosome 21 is included in every cell, …

What are the features of Down syndrome?

Normally, a doctor is able to identify a baby with Down syndrome at birth by their facial appearance. The face has a flat, rounded and small profile, the outer corner of the eyes slope upwards, the ears are small and the tongue is large and can stick …

What causes Down syndrome?

Down syndrome is a genetic condition and is caused by an error during cell division. During fertilization (when the sperm and egg meet), or while an embryo is developing, cells divide abnormally to create extra chromosome 21 material. This additional genetic …

How common is Down syndrome?

The chance of giving birth to a baby with Down syndrome increases significantly with maternal age. The risk according to the mother's age is as follows: 20 years old = 1 in 1500, 30 years old = 1 in 900, 35 years old = 1 in 350, 40 years old = 1 in 85, 43 …

Is Down syndrome contagious?

Down syndrome is a genetic condition and is not contagious.

Can Down syndrome be cured?

Down syndrome is a genetic condition and cannot be cured.

Can Down syndrome be screened for during pregnancy?

During the early stages of pregnancy, it is possible to screen for the presence of Down syndrome. This involves testing the mother's blood for abnormal levels of protein markers (PAPP-A and HCG), the amount of cell-free DNA that is …

Are there additional health risks for people with Down syndrome?

People with Down syndrome have increased risk of developing other medical conditions. These can include heart defects at birth, hypothyroidism, hearing loss, eyesight problems, leukemia (blood cancer), and obstructive sleep …

What is the long-term outlook for a person with Down syndrome?

The level of medical, developmental and intellectual impairments in people with Down syndrome can vary significantly. These impairments can affect the general health, life quality and life span of a person with the condition. …

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About this article

Author: Dr Idan Ben-Barak PhD, MSc, BSc (Med)
First answered: 07 Oct 2014
Last reviewed: 14 May 2019
Rating: 4.5 out of 5
Votes: 1144 (Click smiley face below to rate)
Category: Fetal alcohol syndrome

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