You Hav Ejust Delivered a Baby Bou. His Body Is Pink but His Hands and Fet Are Blue

Down syndrome is a condition in which a person has an actress chromosome.

What is Down Syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are pocket-size "packages" of genes in the torso. They determine how a baby's trunk forms and functions as it grows during pregnancy and after birth. Typically, a babe is born with 46 chromosomes. Babies with Downwardly syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is 'trisomy.' Down syndrome is also referred to as Trisomy 21. This extra copy changes how the baby's body and encephalon develop, which can crusade both mental and physical challenges for the baby.

Fifty-fifty though people with Downwards syndrome might human activity and look similar, each person has dissimilar abilities. People with Down syndrome normally take an IQ (a measure of intelligence) in the mildly-to-moderately low range and are slower to speak than other children.

Some common physical features of Down syndrome include:

• A flattened face, especially the bridge of the olfactory organ
• Almond-shaped eyes that camber up
• A short neck
• Modest 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 beyond the palm of the hand (palmar pucker)
• Small pinky fingers that sometimes curve toward the pollex
• Poor muscle tone or loose joints
• Shorter in superlative every bit children and adults

How Many Babies are Built-in with Down Syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the Us. Each year, about half dozen,000 babies born in the United states of america have Down syndrome. This means that Down's syndrome occurs in about 1 in every 700 babies.^one

Types of Down's syndrome

There are three types of Down's syndrome. People frequently tin't tell the difference betwixt each blazon without looking at the chromosomes because the physical features and behaviors are like.

• Trisomy 21: About 95% of people with Down syndrome accept Trisomy 21.² With this type of Downward syndrome, each jail cell in the body has 3 dissever copies of chromosome 21 instead of the usual ii copies.
• Translocation Downwards syndrome: This type accounts for a modest percentage of people with Down syndrome (most iii%).ⁱⁱ This occurs when an actress office or a whole extra chromosome 21 is present, merely it is attached or "trans-located" to a different chromosome rather than being a separate chromosome 21.
• Mosaic Down syndrome: This type affects about two% of the people with Down syndrome.ⁱⁱ Mosaic means mixture or combination. For children with mosaic Down's syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

Causes and Risk Factors

• The actress chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Downwards syndrome is caused by an extra chromosome, but no ane knows for sure why Down's syndrome occurs or how many different factors play a function.
• One factor that increases the risk for having a baby with Down's syndrome is the female parent's age. Women who are 35 years or older when they get pregnant are more than likely to have a pregnancy affected by Down's syndrome than women who become pregnant at a younger age.^3-5However, the majority of babies with Down's syndrome are born to mothers less than 35 years one-time, because in that location are many more births among younger women.^6,7

Diagnosis

There are 2 basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. A screening examination can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Downwardly syndrome. Screening tests exercise not provide an absolute diagnosis, but they are safer for the mother and the developing baby. Diagnostic tests can typically discover whether or not a baby will take Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Downwardly syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a claret test, which measures the amount of various substances in the mother's blood (due east.k., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a motion picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid backside the baby's neck. Extra fluid in this region could betoken a genetic problem. These screening tests can assist determine the baby'due south adventure of Down's syndrome. Rarely, screening tests tin give an abnormal result even when there is nothing wrong with the babe. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

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

• Chorionic villus sampling (CVS)—examines material from the placenta
• Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)
• Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical string

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

Other Health Problems

Many people with Down's syndrome have the common facial features and no other major nascence defects. However, some people with Downward syndrome might have ane or more major birth defects or other medical problems. Some of the more than common wellness issues among children with Down's syndrome are listed below.⁸

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

Health care providers routinely monitor children with Down's syndrome for these weather.

Treatments

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

Other Resources

The views of these organizations are their own and do not reflect the official position of CDC.

• Down's syndrome Enquiry Foundation (DSRF)external icon
  DSRF initiates research studies to better 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 enquiry, medical care, didactics and advocacy.
• National Association for Down's syndromeexternal icon
  The National Clan for Down's syndrome supports all persons with Down's syndrome in achieving their full potential. They seek to help families, educate the public, address social issues and challenges, and facilitate active participation.
• National Down syndrome Society (NDSS)external icon
  NDSS seeks to increase awareness and acceptance of those with Down's 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 nativity defects, 2010–2014. Nascency Defects Inquiry. 2019; 111(eighteen): 1420-1435.
2. Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
3. Allen EG, Freeman SB, Druschel C, et al. Maternal age and hazard for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
4. Ghosh S, Feingold E, Dey SK. Etiology of Downwardly syndrome: Evidence for consistent association among altered meiotic recombination, nondisjunction, and maternal historic period across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
5. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Down's syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Downward'due south syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(7):758-threescore.
7. Olsen CL, Cantankerous PK, Gensburg LJ, Hughes JP. The effects of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York Country, 1983-1992. Prenat Diagn. 1996 Nov;16(xi):991-1002.
8. Bull MJ, the Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics. 2011;128:393-406.

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

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