Can You Have an Abortion if Down Syndrome Test Is Positive
Down syndrome is a condition in which a person has an actress chromosome.
What is Downwardly Syndrome?
Down syndrome is a status in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the trunk. They decide how a baby'southward body forms and functions as it grows during pregnancy and after birth. Typically, a baby is born with 46 chromosomes. Babies with Down's syndrome have an extra copy of one of these chromosomes, chromosome 21. A medical term for having an actress copy of a chromosome is 'trisomy.' Down syndrome is likewise referred to as Trisomy 21. This extra re-create changes how the baby's body and brain develop, which tin can cause both mental and physical challenges for the baby.
Even though people with Down syndrome might human activity and wait similar, each person has different abilities. People with Downwardly syndrome usually accept 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 Downward syndrome include:
- A flattened face, peculiarly the span of the nose
- Almond-shaped eyes that slant up
- A brusque neck
- Small ears
- A tongue that tends to stick out of the oral fissure
- Tiny white spots on the iris (colored part) of the eye
- Small hands and feet
- A single line across the palm of the manus (palmar crease)
- Pocket-sized 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 Built-in with Down Syndrome?
Downwardly syndrome remains the most mutual chromosomal condition diagnosed in the United States. Each year, about six,000 babies born in the United states accept Down syndrome. This means that Down syndrome occurs in nearly one in every 700 babies.1
Types of Downwardly Syndrome
There are three types of Down syndrome. People often tin't tell the difference between each blazon without looking at the chromosomes because the physical features and behaviors are similar.
- Trisomy 21: About 95% of people with Down syndrome take Trisomy 21.2 With this type of Down's syndrome, each cell in the trunk has 3 divide copies of chromosome 21 instead of the usual ii copies.
- Translocation Down syndrome: This blazon accounts for a minor percent of people with Down syndrome (well-nigh 3%).2 This occurs when an extra part or a whole actress chromosome 21 is present, but it is attached or "trans-located" to a different chromosome rather than being a split chromosome 21.
- Mosaic Down syndrome: This type affects nearly 2% of the people with Down's syndrome.two Mosaic ways mixture or combination. For children with mosaic Downwardly syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical 2 copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down's 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 Risk Factors
- The extra chromosome 21 leads to the physical features and developmental challenges that tin can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, simply no one knows for sure why Downward syndrome occurs or how many unlike factors play a role.
- One factor that increases the gamble for having a baby with Downward syndrome is the mother's age. Women who are 35 years or older when they go significant are more likely to take a pregnancy afflicted past Down's syndrome than women who go meaning at a younger historic period.iii-vYet, the bulk of babies with Down syndrome are born to mothers less than 35 years old, because there are many more than births among younger women.6,seven
Diagnosis
At that place are two basic types of tests available to detect Downward syndrome during pregnancy: screening tests and diagnostic tests. A screening test tin can tell a adult female and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests practise non provide an absolute diagnosis, only they are safer for the mother and the developing baby. Diagnostic tests can typically detect whether or not a infant will accept Down syndrome, but they can be more risky for the female parent and developing baby. Neither screening nor diagnostic tests tin predict the full bear on of Down syndrome on a infant; no one can predict this.
Screening Tests
Screening tests often include a combination of a blood examination, which measures the corporeality of diverse substances in the mother's claret (e.m., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the babe. During an ultrasound, one of the things the technician looks at is the fluid behind the baby's neck. Extra fluid in this region could indicate a genetic problem. These screening tests can aid decide the infant's risk of Downwards syndrome. Rarely, screening tests tin can give an aberrant result fifty-fifty when at that place is nothing wrong with the infant. Sometimes, the test results are normal and still they miss a problem that does be.
Diagnostic Tests
Diagnostic tests are usually performed subsequently a positive screening test in guild 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 infant)
- Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical string
These tests look for changes in the chromosomes that would signal a Down syndrome diagnosis.
Other Health Problems
Many people with Down's syndrome have the common facial features and no other major nativity defects. Notwithstanding, some people with Down syndrome might have ane or more than major birth defects or other medical issues. Some of the more mutual health problems amidst children with Down's syndrome are listed beneath.eight
- Hearing loss
- Obstructive slumber apnea, which is a status where the person'southward breathing temporarily stops while asleep
- Ear infections
- Heart diseases
- Eye defects nowadays at birth
Health care providers routinely monitor children with Down syndrome for these conditions.
Treatments
Down syndrome is a lifelong condition. Services early on in life will oft help babies and children with Down syndrome to improve their physical and intellectual abilities. Nearly of these services focus on helping children with Down's 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 country. Children with Downwards syndrome may also need extra assistance or attending in schoolhouse, although many children are included in regular classes.
Other Resources
The views of these organizations are their own and do non reflect the official position of CDC.
- Down Syndrome Enquiry Foundation (DSRF)external icon
DSRF initiates inquiry studies to improve empathise the learning styles of those with Down syndrome. - Global Down's syndrome Foundationexternal icon
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, educational activity and advocacy. - National Association for Down Syndromeexternal icon
The National Clan for Down syndrome supports all persons with Down syndrome in achieving their total 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 syndrome.
References
- 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 nascence defects, 2010–2014. Birth Defects Inquiry. 2019; 111(eighteen): 1420-1435.
- Shin M, Siffel C, Correa A. Survival of children with mosaic Down syndrome. Am J Med Genet A. 2010;152A:800-1.
- Allen EG, Freeman SB, Druschel C, et al. Maternal historic period and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down syndrome Projects. Hum Genet. 2009 February;125(i):41-52.
- Ghosh S, Feingold E, Dey SK. Etiology of Downward syndrome: Evidence for consequent association amidst altered meiotic recombination, nondisjunction, and maternal age beyond populations. Am J Med Genet A. 2009 Jul;149A(7):1415-20.
- Sherman SL, Allen EG, Edible bean LH, Freeman SB. Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 2007;13(3):221-7.
- Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA. 1981 Aug 14;246(seven):758-60.
- Olsen CL, Cross PK, Gensburg LJ, Hughes JP. The furnishings of prenatal diagnosis, population ageing, and irresolute fertility rates on the live nascency prevalence of Down syndrome in New York State, 1983-1992. Prenat Diagn. 1996 November;16(11):991-1002.
- Bull MJ, the Committee on Genetics. Health supervision for children with Down's syndrome. Pediatrics. 2011;128:393-406.
Source: https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
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