Percent Chance of Having a Baby With Down Syndrome

KEY POINTS

• Babies with Downward syndrome have an actress copy of chromosome 21, which changes how the brain and torso develop.

• People with Down syndrome may accept physical problems, learning problems and distinct physical features.

• Many people with Down syndrome are healthy, but some demand medical intendance for nativity defects or other health conditions.

• Talk to your health care provider or a genetic counselor to learn well-nigh testing for Down syndrome.

What is Down syndrome?

Down syndrome (also called trisomy 21) is the most mutual chromosomal condition in the United States. A chromosomal condition (as well chosen genetic condition) happens when there's a trouble in i or more chromosomes. Chromosomes are the structures that hold genes. Genes are part of your body's cells that store instructions for the way your body grows and works. Genes are passed from parents to children.

Virtually 1 in 700 babies (less than 1 percent) is born with Downwardly syndrome. Many children with Down's syndrome lead good for you, active lives. They can become to schoolhouse, participate in activities and savour being social with others. A person with Downwardly syndrome may live lx years or more.

What causes Downwards syndrome?

Each person has 23 pairs of chromosomes, or 46 in all. For each pair, you get one chromosome from your mother and ane from your father. Babies with Down syndrome have an actress copy of chromosome 21. This extra copy changes the way the brain and torso develop.

We don't know for sure why Down syndrome happens. It may be that the egg or sperm that come together in fertilization has an extra chromosome. Fertilization is when a human's sperm gets inside of a woman'south egg. This is how a adult female gets pregnant.

These things can affect your adventure of having a baby with Down syndrome:

• Your historic period when yous get significant. Your risk of having a baby with Down syndrome increases as you go older, specially if you are age 35 or older.
• Existence a carrier of a certain type of Down's syndrome. If you lot or your partner are a carrier of i type of Downward syndrome (translocation Down syndrome), you carry (have) a gene change for the status, but you don't actually have the status. Y'all can pass the cistron change to your baby, but it's rare.
• Already having a baby with Down syndrome. If yous already accept a baby with Down syndrome, your risk for having some other is higher.

Talk to a genetic counselor to empathize your take a chance of having a babe with Down syndrome. A genetic counselor is a person who is trained to aid you understand genes, birth defects and other medical weather condition that run in families and how they can touch on your wellness and your baby's health.

What are the different types of Down's syndrome?

There are three types of Down syndrome:

1. Trisomy 21. This is the most mutual kind. Near 95 in 100 people with Down syndrome (95 percent) have trisomy 21. In this condition, your babe's cells have three copies of chromosome 21 instead of two.
2. Translocation Down's syndrome. About three in 100 people with Down syndrome (three percentage) have translocation Down's syndrome. This condition happens when a person has two copies of chromosome 21, but they also have an extra part of chromosome 21 or a whole actress chromosome 21 that's attached (besides called translocated) to a different chromosome. Translocation Down syndrome can be inherited (passed from parent to kid through genes).
3. Mosaic Down syndrome. About 2 in 100 people with Down syndrome (2 percent) have mosaic Down's syndrome. People with this condition have some cells with three copies of chromosome 21, just other cells accept the usual two copies. People with mosaic Down syndrome may take fewer characteristics of Down syndrome considering they have some cells with the two copies of chromosome 21.

Can you lot find out during pregnancy if your baby has Down syndrome?

Yes. Health care providers offer testing for Down syndrome to all meaning women as function of regular prenatal intendance (medical care you lot get during pregnancy). You can make up one's mind if yous want to have these tests. Talk to your health care provider or a genetic advisor almost testing for Down's syndrome.

If you lot or your partner has a family history of Down syndrome, tell your health intendance provider or genetic counselor. Family unit history means that someone in either of your families has the condition. Use our family wellness history form to help you find out if sure health weather run in your families.

At that place are two kinds of prenatal tests to check for Downwardly syndrome:

1. Screening tests. These are medical tests to see if you're at adventure or your baby is at risk for certain health weather. A screening test for Down syndrome checks to see if your baby is more than probable than other babies to have Down's syndrome. Screening tests are rubber for you and your baby, but they don't tell you for sure if your babe has a condition like Down's syndrome.
2. Diagnostic tests. These are medical tests to see if y'all exercise or don't have a certain health condition. Diagnostic tests may have more than risks than screening tests, but they can tell yous for sure if your baby does or doesn't have Down's syndrome. If a screening test shows your babe is at high take chances of Down syndrome, your provider may recommend a diagnostic exam to confirm the results.

Screening test results can help you lot decide if y'all want to accept a diagnostic test. It is your choice whether or not you want to have diagnostic tests. You may or may not want to know for sure during pregnancy if your infant has Down syndrome. If you lot exercise detect out for sure, you can learn virtually the condition then y'all're prepared when your baby's born. You lot too can make plans for the medical care your infant may need.

What screening tests are used for Down syndrome?

Screening tests for Down syndrome include:

• First trimester screening. Your provider uses these tests to see if your infant may be at risk for Downwards syndrome and sure other birth defects. The test is usually done at 10 to 13 weeks of pregnancy. It has two parts:

  1. Blood examination. This measures the levels of two proteins in your blood: plasma protein-A (also called PAPP-A) and a pregnancy hormone called human chorionic gonadotropin (as well called HCG). If these levels are too high or too low, your babe may be at college risk for Down syndrome.
  2. Nuchal translucency examination. This is an ultrasound to look for extra fluid at the back of your infant's neck. An ultrasound uses sound waves and a computer screen to evidence a motion picture of your babe inside the womb. Actress fluid may mean a higher risk for Down syndrome
• Second trimester screening. You get a maternal blood examination (also called quad screen) to measure up to 4 substances in your claret that may testify a higher risk for Down syndrome: blastoff-fetoprotein (AFP), estriol, HCG and inhibin A. A examination measuring three of these proteins is chosen a triple screen, and a exam measuring four of these proteins is called a quad screen. The test is usually done at 15 to 22 weeks of pregnancy.
• Integrated screening test. Your provider combines the results from the first trimester screening and the second trimester screening to meliorate estimate the chances that your babe may have Down syndrome.
• Cell-free Deoxyribonucleic acid testing (also called noninvasive prenatal screening or testing or NIPT). This test checks your blood for your babe'due south Dna to see if he is at higher risk for Down syndrome. You tin have this test as early as x weeks of pregnancy. Talk to your provider virtually whether this exam is right for you.

What diagnostic tests are used for Down syndrome?

During a diagnostic test, your provider uses a needle to take a sample of your infant's claret, amniotic fluid or tissue for testing. There is a small adventure of miscarriage with these diagnostic tests. Miscarriage is when a infant dies in the womb before 20 weeks of pregnancy.

Diagnostic tests for Down's syndrome include:

• Chorionic villus sampling (also chosen CVS). This test checks tissue from the placenta to see if your baby has a genetic condition, like Down syndrome. You tin can go CVS at 10 to xiii weeks of pregnancy.
• Amniocentesis (also chosen amnio). This examination takes some amniotic fluid from effectually your babe in the uterus (womb) to check for birth defects and genetic conditions in your baby. You can get this test at 15 to 20 weeks of pregnancy.
• Percutaneous umbilical cord sampling (too called PUBS or cordocentesis). This test takes a small amount of your baby'southward blood from the umbilical cord to check for chromosome defects. Y'all can get this exam betwixt 18 and 22 weeks of pregnancy. In that location are greater risks with PUBS than with amnio or CVS, so you only get this test if other tests are unclear and you want to ostend whether or not your baby has Down's syndrome.

How are babies with Down syndrome diagnosed later nascency?

After nascency, your baby'south provider gives your baby a physical exam and checks for common physical characteristics of Down syndrome. To confirm your baby has Down's syndrome, she sends a sample of your infant'south claret to a lab for testing.

What are some physical characteristics of a person with Down syndrome?

A person with Down syndrome may take distinct physical characteristics, including:

Facial features. Most babies with Down syndrome accept some of thesecharacteristics:

• A flattened face, with a apartment nose
• Almond-shaped eyes that slant upward
• A small oral cavity
• A natural language that may stick out of the rima oris
• Tiny white spots on the iris (colored part) of the centre

Other physical characteristics. Babies and children with Down syndrome may have some of these characteristics:

• A short neck
• Small hands and feet. They also may have small-scale pinky fingers that sometimes curve towards the thumb.
• A single line across the centre of the palm of the hand (besides called a palmar crease)
• Pocket-size ears
• Low musculus tone (too called hypotonia) or loose joints
• Short height

How does Down's syndrome affect your child's health and development?

Many people with Down's syndrome are healthy, just some need special medical care. Common health and development issues in people with Down syndrome include:

• Intellectual and developmental disabilities. These are bug with how the encephalon works that can crusade a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting forth with others. Babies with Down's syndrome may reach developmental milestones later than other babies. A developmental milestone is a skill or action that about children can do at a sure historic period. Milestones include sitting, walking, talking, having social skills and having thinking skills. Getting early on intervention services as before long equally possible tin assistance improve your babe's development as she grows. These services tin aid children from nascence through three acquire of import skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Visit the Early Childhood Technical Assistance Center to discover your state's contact information for early on intervention services.
• Congenital heart defects. These are heart weather condition that a baby's born with. These conditions can affect the centre's shape or how it works, or both. Most half of babies with Downwardly syndrome have built heart defects. Like all babies, babies with Down's syndrome get centre screening as part of newborn screening tests earlier they get out the hospital after nativity. Babies with Downwards syndrome besides get checked past a pediatric cardiologist, a doc who treats babies and children with heart bug. If your baby has a congenital center defect, treatment may include taking medicines or having centre surgery. Sometimes balmy heart defects don't need handling.
• Hearing loss. Hearing loss tin can happen when any part of the ear isn't working in the usual way. Information technology tin can range from mild to profound (when yous can't hear any speech sounds). About three in 4 babies with Down syndrome (75 percent) have hearing loss. Like all babies, babies with Downward syndrome get screened for hearing loss every bit office of newborn screening. Babies with Down syndrome need regular hearing tests. Your baby may need to see an ear, nose and throat (also chosen ENT) doctor who specializes in treating babies and children (called a pediatric ENT). Babies and children with Down's syndrome besides may accept many ear infections, which can sometimes lead to hearing loss. Your infant may need ear tubes to treat ear infections that won't go away with medicine. Ear tubes are tiny tubes placed through the ear pulsate to allow air into the middle ear and forestall fluids from building up behind the ear drum.
• Slumber disorders, like obstructive slumber apnea. Obstructive sleep apnea is when your child's animate stops and starts during slumber because her airway becomes narrow or blocked. Nigh ane in 2 (50 percentage) to 3 in four babies with Down syndrome (75 percent) accept obstructive sleep apnea. Snoring is the near common sign of obstructive sleep apnea. All children with Down syndrome should be checked for obstructive sleep apnea, fifty-fifty if they don't snore. This can be done during an overnight sleep study in a special slumber lab to check for sleep problems. Your kid wears sensors, and a team of health intendance providers checks your kid'due south animate, blood oxygen levels, heart rate and encephalon waves while she sleeps. Treatment for sleep disorders may include wearing a special mask to assist your kid breathe during sleep. Sometimes obstructive slumber apnea happens when a child'southward tonsils and adenoids are too big. Tonsils and adenoids are lymph tissues most the throat that help protect the body from infection. Your kid may demand surgery to remove his tonsils and adenoids.
• Vision problems. More than half of children with Down syndrome take vision bug. Some children with Downward syndrome have cataracts. This is when the lens of the centre is cloudy instead of clear, making it hard to encounter. An eye medico chosen a pediatric ophthalmologist checks your baby's vision after birth. Children with Down's syndrome need regular eye exams. They may demand glasses, surgery or other treatments to help improve their vision.

Some children with Downwards syndrome have other conditions, including:

• Blood disorders. Your baby gets regular claret tests to bank check for problems, like low fe or anemia. Anemia is when you don't accept plenty healthy scarlet blood cells to carry oxygen to the rest of your body. It's rare, but some children with Down's syndrome may develop a blood cancer called leukemia. These children are treated by a pediatric hematologist-oncologist, a doctor who treats children with blood disorders and cancer. They may need chemotherapy (medicines used to treat cancer).
• Dental problems. Your baby may develop teeth more than slowly, in a different order or have fewer teeth than other children. Health care providers recommend that babies with Down syndrome become checked past a dentist within 6 months of getting their start tooth or past age 1.
• Infections. Babies with Down syndrome tend to get ill often because their bodies accept trouble fighting off infections. Make sure your babe gets all of her vaccinations on fourth dimension. Vaccinations help protect your baby from certain diseases.
• Low musculus tone. Babies with low musculus tone may have trouble with sucking, feeding, swallowing and having bowel movements. If your baby has poor musculus tone, she may have delays in meeting developmental milestones, like rolling over, sitting upwardly, crawling and walking.
• Problems with digestion and the intestines, like Hirschsprung affliction. The intestines are long tubes that are office of your digestive organization. Your digestive system helps your torso break down food, take in nutrients and remove waste. Hirschsprung disease happens when the big intestine (also called the colon) is blocked. Babies with Hirschsprung disease need surgery to remove part of colon that isn't working well.
• Neck or spine problems. Bones in the neck or spine tin can be unstable and increment your kid'southward risk of spinal cord injury. Some children need surgery.
• Hip issues. Children with Down syndrome may be at higher adventure for hip dislocation. This is when the thigh os slips out of place at the hip.
• Thyroid issues. The thyroid is a gland in your cervix that makes hormones (chemicals) that assist your body shop and use energy from food. Babies with Down syndrome may have hypothyroidism. This is when the thyroid gland doesn't make plenty thyroid hormone. If not treated, this can affect your baby'due south growth and development. Your baby gets checked for thyroid problems as part of newborn screening and has follow-upwards tests every year. Thyroid problems are treated with medicine.
• Epilepsy. Children with Down syndrome are more likely to have epilepsy. This is a seizure disorder that affects how the nerve cells in your brain work. A seizure is sudden, abnormal electric activity in the brain that can cause changes in behavior, move, feelings and consciousness. Seizures are treated with medicine.
• Mental health and emotional issues. Children with Down syndrome may have behavioral and emotional problems like anxiety, depression and attention deficit hyperactivity disorder (also called ADHD). Children with ADHD may take trouble paying attending and decision-making behaviors or be overly active. Treatment may include intendance from a mental wellness professional. This is a person with training and education to aid people with emotional or mental wellness bug.
• Microcephaly. This is a birth defect in which a infant'due south head is smaller than expected, compared to babies of the same sex and historic period. Some babies with microcephaly accept smaller brains that may non develop properly. To diagnose microcephaly if your babe has Down's syndrome, your babe's provider measures your baby's caput circumference and compares it to other babies' caput measurements. Head circumference is the distance around the top of your infant's head.

More information

• Linda Crnic Institute for Down syndrome
• National Down Syndrome Congress
• National Downward Syndrome Society
• National Society of Genetic Counselors

Last reviewed: February 2020

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Source: https://www.marchofdimes.org/complications/down-syndrome.aspx

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