Odds of Having a Baby With Down Syndrome After as Low Panirna With Another Soft Marker

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

What is Down's syndrome?

Down's syndrome is a condition in which a person has an extra chromosome. Chromosomes are pocket-sized "packages" of genes in the torso. They determine how a baby's body forms and functions equally it grows during pregnancy and after birth. Typically, a baby is built-in with 46 chromosomes. Babies with Downwards syndrome have an extra re-create of 1 of these chromosomes, chromosome 21. A medical term for having an extra copy of a chromosome is 'trisomy.' Down's syndrome is also referred to equally Trisomy 21. This actress copy changes how the baby'due south torso and encephalon develop, which can cause both mental and physical challenges for the baby.

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

Some mutual physical features of Down's syndrome include:

• A flattened face, particularly the bridge of the nose
• Almond-shaped eyes that slant upwards
• A short cervix
• Small ears
• A tongue that tends to stick out of the mouth
• Tiny white spots on the iris (colored office) of the eye
• Small hands and anxiety
• A unmarried line beyond the palm of the hand (palmar crease)
• Minor pinky fingers that sometimes curve toward the thumb
• Poor muscle tone or loose joints
• Shorter in height as children and adults

How Many Babies are Born with Down syndrome?

Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about half-dozen,000 babies born in the United States have Down syndrome. This ways that Down syndrome occurs in most 1 in every 700 babies.¹

Types of Downward Syndrome

There are three types of Downwards syndrome. People oftentimes tin can't tell the difference between each type without looking at the chromosomes considering the concrete features and behaviors are like.

• Trisomy 21: About 95% of people with Down syndrome have Trisomy 21.^two With this blazon of Down's syndrome, each cell in the body has iii split copies of chromosome 21 instead of the usual 2 copies.
• Translocation Down syndrome: This type accounts for a small pct of people with Down syndrome (about 3%).² This occurs when an actress part or a whole extra chromosome 21 is present, but it is fastened or "trans-located" to a different chromosome rather than being a separate chromosome 21.
• Mosaic Downwardly syndrome: This type affects about ii% of the people with Down's syndrome.² Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, just 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. All the same, 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 concrete features and developmental challenges that can occur amid people with Down syndrome. Researchers know that Down's syndrome is caused by an extra chromosome, but no one knows for sure why Downward syndrome occurs or how many different factors play a part.
• One factor that increases the risk for having a infant with Down syndrome is the mother's age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age.^3-fiveStill, the majority of babies with Down's syndrome are born to mothers less than 35 years old, because at that place are many more than births among younger women.^6,vii

Diagnosis

In that location are two basic types of tests available to discover Down syndrome during pregnancy: screening tests and diagnostic tests. A screening exam can tell a adult female and her healthcare provider whether her pregnancy has a lower or higher gamble of having Down's syndrome. Screening tests do non provide an absolute diagnosis, merely they are safer for the female parent and the developing baby. Diagnostic tests tin typically detect whether or non a baby will have Downwardly syndrome, only they tin be more risky for the mother and developing baby. Neither screening nor diagnostic tests tin can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests often include a combination of a claret test, which measures the corporeality of various substances in the female parent's claret (due east.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a movie of the baby. During an ultrasound, 1 of the things the technician looks at is the fluid behind the baby's cervix. Actress fluid in this region could indicate a genetic problem. These screening tests tin can aid determine the baby's risk of Down's syndrome. Rarely, screening tests can requite an aberrant issue even when there is nothing wrong with the baby. Sometimes, the exam results are normal and withal they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are usually performed after a positive screening exam in lodge to confirm a Down 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 claret sampling (PUBS)—examines blood from the umbilical string

These tests look for changes in the chromosomes that would betoken a Down syndrome diagnosis.

Other Health Bug

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

• Hearing loss
• Obstructive sleep apnea, which is a condition where the person'south animate temporarily stops while comatose
• Ear infections
• Eye diseases
• Heart defects present at nascency

Wellness care providers routinely monitor children with Downwards syndrome for these weather.

Treatments

Down syndrome is a lifelong status. Services early in life volition often help babies and children with Down syndrome to meliorate their physical and intellectual abilities. Well-nigh of these services focus on helping children with Down syndrome develop to their total potential. These services include spoken language, 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 attention in school, although many children are included in regular classes.

Other Resources

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

• Down Syndrome Research Foundation (DSRF)external icon
  DSRF initiates enquiry studies to better understand the learning styles of those with Down syndrome.
• Global Downwardly Syndrome Foundationexternal icon
  This foundation is dedicated to significantly improving the lives of people with Down's syndrome through research, medical care, education and advocacy.
• National Association for Down's syndromeexternal icon
  The National Clan for Down Syndrome supports all persons with Down syndrome in achieving their full potential. They seek to help families, educate the public, address social problems and challenges, and facilitate active participation.
• National Down syndrome Guild (NDSS)external icon
  NDSS seeks to increase awareness and acceptance of those with Downward 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. Birth Defects Research. 2019; 111(eighteen): 1420-1435.
2. Shin M, Siffel C, Correa A. Survival of children with mosaic Downwards syndrome. Am J Med Genet A. 2010;152A:800-one.
3. Allen EG, Freeman SB, Druschel C, et al. Maternal historic period and chance for trisomy 21 assessed by the origin of chromosome nondisjunction: a report 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 Downwards syndrome: Evidence for consequent association among contradistinct meiotic recombination, nondisjunction, and maternal age across populations. Am J Med Genet A. 2009 Jul;149A(7):1415-twenty.
5. Sherman SL, Allen EG, Bean LH, Freeman SB. Epidemiology of Downwards syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(three):221-7.
6. Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the Us. JAMA. 1981 Aug 14;246(7):758-sixty.
7. Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The furnishings of prenatal diagnosis, population ageing, and changing fertility rates on the live birth prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 November;16(11):991-1002.
8. Bull MJ, the Commission 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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