I Have a Sma Chromosome Will My Baby Get It

March 09, 2022 Post a Comment

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

Common traits in trisomy 21 down syndrome

What is Down syndrome?

Down syndrome is a condition in which a person has an extra chromosome. Chromosomes are small "packages" of genes in the body. They determine how a baby's torso forms and functions equally it grows during pregnancy and later on birth. Typically, a baby is built-in with 46 chromosomes. Babies with Down syndrome accept an actress copy of i of these chromosomes, chromosome 21. A medical term for having an actress copy of a chromosome is 'trisomy.' Down syndrome is likewise referred to every bit Trisomy 21. This actress copy changes how the baby'south body and encephalon develop, which tin cause both mental and physical challenges for the infant.

Even though people with Down syndrome might human activity and await similar, each person has different abilities. People with Down 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 concrete features of Down's syndrome include:

A flattened face, peculiarly the span of the nose
Almond-shaped eyes that slant up
A short neck
Pocket-size ears
A tongue that tends to stick out of the mouth
Tiny white spots on the iris (colored office) of the middle
Minor easily and feet
A unmarried line across the palm of the hand (palmar crease)
Small pinky fingers that sometimes bend toward the thumb
Poor muscle tone or loose joints
Shorter in height as children and adults

How Many Babies are Born with Down's syndrome?

Downwards syndrome remains the about mutual chromosomal condition diagnosed in the United States. Each year, most 6,000 babies built-in in the Us have Down syndrome. This means that Down syndrome occurs in nigh 1 in every 700 babies.¹

Types of Down Syndrome

At that place are iii types of Downwards syndrome. People frequently tin can't tell the difference between each blazon without looking at the chromosomes because the physical features and behaviors are like.

Trisomy 21: Most 95% of people with Down's syndrome have Trisomy 21.ⁱⁱ With this type of Down's syndrome, each cell in the body has 3 split 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 (nigh three%).² This occurs when an actress part or a whole extra chromosome 21 is present, but it is attached or "trans-located" to a different chromosome rather than being a separate chromosome 21.
Mosaic Down syndrome: This type affects about ii% of the people with Down syndrome.² Mosaic means mixture or combination. For children with mosaic Down's syndrome, some of their cells have iii copies of chromosome 21, but other cells have the typical 2 copies of chromosome 21. Children with mosaic Down syndrome may have the aforementioned features every bit 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 Risk Factors

The extra chromosome 21 leads to the physical features and developmental challenges that tin can occur amongst people with Down's syndrome. Researchers know that Down's syndrome is caused by an extra chromosome, only no 1 knows for sure why Down syndrome occurs or how many different factors play a function.
One gene that increases the risk for having a babe with Down syndrome is the mother's age. Women who are 35 years or older when they go pregnant are more likely to have a pregnancy affected past Down syndrome than women who become pregnant at a younger age.^3-vAll the same, the majority of babies with Down's syndrome are born to mothers less than 35 years old, considering there are many more births among younger women.^6,7

Diagnosis

At that place are ii bones types of tests bachelor to observe Down syndrome during pregnancy: screening tests and diagnostic tests. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher take a chance of having Downward syndrome. Screening tests do non provide an absolute diagnosis, but they are safer for the mother and the developing babe. Diagnostic tests can typically discover whether or not a baby volition have Down syndrome, merely they can be more risky for the female parent and developing infant. Neither screening nor diagnostic tests can predict the full bear upon of Down syndrome on a baby; no one can predict this.

Screening Tests

Screening tests ofttimes include a combination of a blood test, which measures the amount of diverse substances in the mother's claret (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a motion picture of the baby. During an ultrasound, ane of the things the technician looks at is the fluid backside the infant's cervix. Extra fluid in this region could indicate a genetic problem. These screening tests can help decide the baby's take chances of Down syndrome. Rarely, screening tests can requite an abnormal result fifty-fifty when there is cypher wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic Tests

Diagnostic tests are normally performed after a positive screening test in lodge to ostend 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 blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Downwards syndrome diagnosis.

Treatments

Down syndrome is a lifelong condition. Services early on in life will often assistance babies and children with Down syndrome to amend their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include oral communication, occupational, and concrete therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may likewise need actress aid or attending in school, although many children are included in regular classes.

Each person with Down syndrome has different talents and the ability to thrive.

Other Resources

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

Down Syndrome Enquiry Foundation (DSRF)external icon
DSRF initiates enquiry studies to better understand the learning styles of those with Down syndrome.
Global Down syndrome Foundationexternal icon
This foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education and advancement.
National Clan for Down 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's syndrome Lodge (NDSS)external icon
NDSS seeks to increment 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 birth defects, 2010–2014. Nascence Defects Research. 2019; 111(18): 1420-1435.
Shin Thou, 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 age and take a chance for trisomy 21 assessed by the origin of chromosome nondisjunction: a written report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52.
Ghosh Due south, Feingold E, Dey SK. Etiology of Down syndrome: Testify 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.
Sherman SL, Allen EG, Edible bean LH, Freeman SB. Epidemiology of Down's syndrome. Ment Retard Dev Disabil Res Rev. 2007;thirteen(3):221-7.
Adams MM, Erickson JD, Layde PM, Oakley GP. Down's syndrome. Recent trends in the United States. JAMA. 1981 Aug xiv;246(7):758-60.
Olsen CL, Cross 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 Nov;xvi(11):991-1002.
Bull MJ, the Commission on Genetics. Health supervision for children with Downwards syndrome. Pediatrics. 2011;128:393-406.