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Downwardly syndrome is a condition in which a person has an extra chromosome.

What is Down's syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are pocket-sized "packages" of genes in the body. They determine how a infant'due south body forms and functions every bit it grows during pregnancy and afterward nativity. Typically, a baby is born with 46 chromosomes. Babies with Downward syndrome take an extra re-create of i of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is 'trisomy.' Down's syndrome is likewise referred to as Trisomy 21. This extra copy changes how the baby'due south body and brain develop, which can cause both mental and physical challenges for the baby.

Even though people with Down syndrome might human action and wait similar, each person has unlike abilities. People with Down's syndrome usually take an IQ (a measure out of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down's syndrome include:

• A flattened face, especially the bridge of the nose
• Almond-shaped optics that slant up
• A short cervix
• Modest ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored part) of the eye
• Small-scale hands and anxiety
• A single line beyond the palm of the manus (palmar crease)
• Small pinky fingers that sometimes bend toward the pollex
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down's syndrome?

Down syndrome remains the most mutual chromosomal condition diagnosed in the U.s.. Each twelvemonth, about vi,000 babies born in the U.s.a. take Down syndrome. This means that Down syndrome occurs in about 1 in every 700 babies.^ane

Types of Down syndrome

In that location are iii types of Down syndrome. People often can't tell the divergence betwixt each type without looking at the chromosomes because the physical features and behaviors are similar.

• Trisomy 21: About 95% of people with Down syndrome take Trisomy 21.^two With this type of Down's syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small percentage of people with Down syndrome (well-nigh 3%).² This occurs when an extra office or a whole extra chromosome 21 is present, only information technology is attached or "trans-located" to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This blazon affects about 2% of the people with Down syndrome.² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have iii copies of chromosome 21, only other cells have the typical ii copies of chromosome 21. Children with mosaic Down syndrome may take the aforementioned features as other children with Down syndrome. However, they may have fewer features of the status due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Take a chance Factors

• The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an actress chromosome, but no 1 knows for sure why Down's syndrome occurs or how many unlike factors play a office.
• One factor that increases the risk for having a baby with Down syndrome is the mother's age. Women who are 35 years or older when they become pregnant are more likely to accept a pregnancy affected by Down's syndrome than women who become meaning at a younger age.^three-5Even so, the majority of babies with Downwards syndrome are built-in to mothers less than 35 years old, because there are many more births among younger women.^6,7

Diagnosis

There are two basic types of tests bachelor to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test tin can tell a woman and her healthcare provider whether her pregnancy has a lower or higher adventure of having Down's syndrome. Screening tests do non provide an absolute diagnosis, but they are safer for the female parent and the developing baby. Diagnostic tests can typically observe whether or not a baby will have Down syndrome, but they can be more risky for the female parent and developing babe. Neither screening nor diagnostic tests tin can predict the full impact of Down syndrome on a baby; no 1 tin can predict this.

Screening Tests

Screening tests often include a combination of a blood exam, which measures the amount of diverse substances in the mother's blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby'south neck. Actress fluid in this region could indicate a genetic trouble. These screening tests tin aid make up one's mind the baby'south risk of Down syndrome. Rarely, screening tests can give an aberrant result even when in that location is cipher incorrect with the baby. Sometimes, the exam results are normal and yet they miss a trouble that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

• Chorionic villus sampling (CVS)—examines textile from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the babe)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests expect for changes in the chromosomes that would indicate a Down syndrome diagnosis.

Other Wellness Problems

Many people with Down syndrome have the common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more mutual health problems among children with Down syndrome are listed below.⁸

• Hearing loss
• Obstructive sleep apnea, which is a status where the person's breathing temporarily stops while asleep
• Ear infections
• Centre diseases
• Eye defects present at birth

Wellness intendance providers routinely monitor children with Down's syndrome for these conditions.

Treatments

Down syndrome is a lifelong status. Services early in life will often help babies and children with Downwardly syndrome to improve their concrete and intellectual abilities. Most of these services focus on helping children with Downward syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early on intervention programs in each state. Children with Down syndrome may likewise need extra help or attention in schoolhouse, although many children are included in regular classes.

Other Resource

The views of these organizations are their ain and practice not reverberate the official position of CDC.

• Down Syndrome Research Foundation (DSRF)external icon
  DSRF initiates research studies to amend understand the learning styles of those with Downward syndrome.
• Global Down syndrome Foundationexternal icon
  This foundation is dedicated to significantly improving the lives of people with Down's syndrome through research, medical care, didactics and advocacy.
• National Association for Down's syndromeexternal icon
  The National Clan for Down syndrome supports all persons with Down's syndrome in achieving their total potential. They seek to help families, educate the public, address social bug and challenges, and facilitate agile participation.
• National Down syndrome Social club (NDSS)external icon
  NDSS seeks to increase awareness and acceptance of those with Down syndrome.

References

1. Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle‐Colarusso T, Cho SJ, Aggarwal D, Kirby RS. National population‐based estimates for major birth defects, 2010–2014. Nativity Defects Research. 2019; 111(18): 1420-1435.
2. Shin M, Siffel C, Correa A. Survival of children with mosaic Down's syndrome. Am J Med Genet A. 2010;152A:800-one.
3. Allen EG, Freeman SB, Druschel C, et al. Maternal age and take a chance for trisomy 21 assessed by the origin of chromosome nondisjunction: a study from the Atlanta and National Down's syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
4. Ghosh S, Feingold Eastward, Dey SK. Etiology of Down's syndrome: Bear witness for consistent association among contradistinct meiotic recombination, nondisjunction, and maternal historic period across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-xx.
5. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(three):221-7.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Downward's syndrome. Contempo trends in the Us. JAMA. 1981 Aug 14;246(7):758-lx.
7. Olsen CL, Cantankerous PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live nascence prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 November;xvi(11):991-1002.
8. Balderdash MJ, the Commission on Genetics. Health supervision for children with Down's syndrome. Pediatrics. 2011;128:393-406.

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Source: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html

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