For Every 2 Downsyndrome Babies There Are How Many Babies With Both Reproductive Organs

Central POINTS

• Babies with Down's syndrome have an extra re-create of chromosome 21, which changes how the brain and body develop.

• People with Down syndrome may have concrete problems, learning bug and distinct physical features.

• Many people with Down syndrome are healthy, but some need medical care for birth defects or other wellness atmospheric condition.

• Talk to your wellness care provider or a genetic advisor to learn about testing for Down syndrome.

What is Down syndrome?

Down syndrome (also called trisomy 21) is the nearly common chromosomal status in the United states. A chromosomal condition (also called genetic condition) happens when in that location's a problem in i or more chromosomes. Chromosomes are the structures that concord genes. Genes are function of your body's cells that store instructions for the manner your torso grows and works. Genes are passed from parents to children.

Virtually 1 in 700 babies (less than ane pct) is built-in with Down syndrome. Many children with Down syndrome pb salubrious, agile lives. They can go to school, participate in activities and savour being social with others. A person with Down syndrome may live 60 years or more.

What causes Down syndrome?

Each person has 23 pairs of chromosomes, or 46 in all. For each pair, you go one chromosome from your mother and one from your father. Babies with Down's syndrome take an extra copy of chromosome 21. This extra re-create changes the mode the encephalon and torso develop.

We don't know for certain 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 man's sperm gets inside of a adult female's egg. This is how a adult female gets pregnant.

These things can affect your run a risk 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 yous get older, especially if you lot are historic period 35 or older.
• Existence a carrier of a certain blazon of Down's syndrome. If yous or your partner are a carrier of one type of Down's syndrome (translocation Down syndrome), you lot comport (have) a gene change for the condition, but you don't really have the condition. Yous tin can laissez passer the factor change to your baby, but information technology's rare.
• Already having a baby with Downward syndrome. If you already take a baby with Down syndrome, your risk for having some other is higher.

Talk to a genetic counselor to understand your risk of having a babe with Downwardly syndrome. A genetic advisor is a person who is trained to aid you understand genes, nativity defects and other medical weather condition that run in families and how they tin bear on your health and your baby's wellness.

What are the different types of Down syndrome?

There are three types of Down syndrome:

1. Trisomy 21. This is the most common kind. Nearly 95 in 100 people with Down's syndrome (95 percent) take trisomy 21. In this condition, your baby's cells accept iii copies of chromosome 21 instead of two.
2. Translocation Down's syndrome. About 3 in 100 people with Down's syndrome (three percent) have translocation Downward syndrome. This condition happens when a person has 2 copies of chromosome 21, simply they also have an extra role of chromosome 21 or a whole actress chromosome 21 that'south fastened (also called translocated) to a different chromosome. Translocation Down syndrome can exist inherited (passed from parent to child through genes).
3. Mosaic Down syndrome. About ii in 100 people with Downwardly syndrome (2 per centum) have mosaic Down syndrome. People with this condition have some cells with three copies of chromosome 21, just other cells have the usual two copies. People with mosaic Downward syndrome may have fewer characteristics of Down syndrome considering they have some cells with the two copies of chromosome 21.

Can you find out during pregnancy if your babe has Down's syndrome?

Yep. Health intendance providers offer testing for Down syndrome to all pregnant women equally role of regular prenatal care (medical intendance you get during pregnancy). Yous tin can decide if you want to have these tests. Talk to your wellness intendance provider or a genetic advisor about testing for Downward syndrome.

If you lot or your partner has a family history of Down's syndrome, tell your health care provider or genetic advisor. Family history means that someone in either of your families has the condition. Use our family wellness history form to help you notice out if certain health conditions run in your families.

There are ii kinds of prenatal tests to check for Down syndrome:

1. Screening tests. These are medical tests to come across if yous're at risk or your infant is at risk for certain health conditions. A screening test for Downwardly syndrome checks to encounter if your infant is more likely than other babies to have Down syndrome. Screening tests are condom for you and your baby, but they don't tell you for certain if your baby has a condition like Down syndrome.
2. Diagnostic tests. These are medical tests to see if you practise or don't accept a certain wellness status. Diagnostic tests may have more risks than screening tests, merely they tin tell you for certain if your babe does or doesn't take Downwardly syndrome. If a screening test shows your baby is at high risk of Down syndrome, your provider may recommend a diagnostic test to confirm the results.

Screening test results can assistance you make up one's mind if y'all desire to have a diagnostic exam. Information technology is your choice whether or not you want to have diagnostic tests. You may or may non want to know for sure during pregnancy if your babe has Down syndrome. If you do find out for sure, you lot can learn near the condition then you lot're prepared when your baby'due south built-in. You also can make plans for the medical care your infant may demand.

What screening tests are used for Down's syndrome?

Screening tests for Downwards syndrome include:

• Get-go trimester screening. Your provider uses these tests to meet if your baby may be at take a chance for Down's syndrome and certain other birth defects. The examination is usually done at x to thirteen weeks of pregnancy. Information technology has two parts:

  1. Claret test. This measures the levels of two proteins in your blood: plasma protein-A (also called PAPP-A) and a pregnancy hormone chosen human being chorionic gonadotropin (also called HCG). If these levels are too high or too low, your baby may be at college risk for Down's syndrome.
  2. Nuchal translucency test. This is an ultrasound to look for extra fluid at the back of your babe'due south neck. An ultrasound uses audio waves and a reckoner screen to bear witness a picture of your baby within the womb. Extra fluid may mean a higher risk for Down syndrome
• 2nd trimester screening. You go a maternal blood test (also called quad screen) to measure upwardly to 4 substances in your blood that may show a higher risk for Down syndrome: alpha-fetoprotein (AFP), estriol, HCG and inhibin A. A exam measuring 3 of these proteins is chosen a triple screen, and a exam measuring iv of these proteins is chosen a quad screen. The test is commonly done at fifteen to 22 weeks of pregnancy.
• Integrated screening test. Your provider combines the results from the first trimester screening and the 2nd trimester screening to better approximate the chances that your baby may have Down's syndrome.
• Jail cell-free DNA testing (also called noninvasive prenatal screening or testing or NIPT). This test checks your blood for your babe's Deoxyribonucleic acid to run across if he is at higher risk for Down syndrome. Yous can accept this test as early equally 10 weeks of pregnancy. Talk to your provider almost whether this test is right for y'all.

What diagnostic tests are used for Down syndrome?

During a diagnostic test, your provider uses a needle to take a sample of your babe'south blood, amniotic fluid or tissue for testing. In that location is a small risk of miscarriage with these diagnostic tests. Miscarriage is when a baby dies in the womb earlier 20 weeks of pregnancy.

Diagnostic tests for Down syndrome include:

• Chorionic villus sampling (as well chosen CVS). This examination checks tissue from the placenta to encounter if your infant has a genetic condition, like Down syndrome. You can get CVS at 10 to 13 weeks of pregnancy.
• Amniocentesis (too called amnio). This exam takes some amniotic fluid from effectually your baby in the uterus (womb) to cheque for nativity defects and genetic conditions in your infant. Yous can get this examination at 15 to 20 weeks of pregnancy.
• Percutaneous umbilical cord sampling (as well called PUBS or cordocentesis). This test takes a small-scale amount of your babe'south claret from the umbilical cord to check for chromosome defects. You can get this test betwixt xviii and 22 weeks of pregnancy. There are greater risks with PUBS than with amnio or CVS, so yous just get this examination if other tests are unclear and you want to ostend whether or not your infant has Down syndrome.

How are babies with Down's syndrome diagnosed after birth?

After nativity, your baby's provider gives your babe a physical exam and checks for mutual concrete characteristics of Down syndrome. To ostend your infant has Down syndrome, she sends a sample of your baby'south claret to a lab for testing.

What are some concrete characteristics of a person with Downwardly syndrome?

A person with Down syndrome may accept singled-out physical characteristics, including:

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

• A flattened face, with a flat olfactory organ
• Almond-shaped eyes that slant up
• A small mouth
• A tongue that may stick out of the mouth
• Tiny white spots on the iris (colored role) of the eye

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

• A brusk neck
• Modest hands and feet. They as well may have modest pinky fingers that sometimes curve towards the thumb.
• A single line beyond the middle of the palm of the manus (also called a palmar crease)
• Modest ears
• Low musculus tone (too called hypotonia) or loose joints
• Brusque superlative

How does Downwardly syndrome affect your child's wellness 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's 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 evolution, learning, communicating, taking care of himself or getting along with others. Babies with Down's syndrome may reach developmental milestones later than other babies. A developmental milestone is a skill or activeness that most children can do at a sure age. Milestones include sitting, walking, talking, having social skills and having thinking skills. Getting early intervention services every bit before long as possible can help better your baby'southward development equally she grows. These services can help children from nascence through 3 learn important skills. Services include therapy to help a child talk, walk, learn self-assistance skills and interact with others. Visit the Early Childhood Technical Assistance Middle to find your land's contact information for early intervention services.
• Congenital centre defects. These are center conditions that a baby'southward born with. These weather condition can affect the heart's shape or how it works, or both. About half of babies with Down syndrome have congenital heart defects. Like all babies, babies with Down's syndrome become heart screening as part of newborn screening tests before they leave the hospital after nascency. Babies with Down's syndrome also get checked past a pediatric cardiologist, a medico who treats babies and children with heart issues. If your baby has a congenital middle defect, treatment may include taking medicines or having heart surgery. Sometimes mild heart defects don't need treatment.
• Hearing loss. Hearing loss can happen when any function of the ear isn't working in the usual way. It can range from mild to profound (when y'all tin can't hear any speech sounds). Most iii in 4 babies with Down's syndrome (75 percent) have hearing loss. Like all babies, babies with Down's syndrome become screened for hearing loss as part of newborn screening. Babies with Down's 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 likewise may accept many ear infections, which can sometimes atomic number 82 to hearing loss. Your infant may need ear tubes to care for ear infections that won't become away with medicine. Ear tubes are tiny tubes placed through the ear drum to allow air into the middle ear and prevent fluids from building up behind the ear drum.
• Sleep disorders, like obstructive sleep apnea. Obstructive sleep apnea is when your child'due south breathing stops and starts during slumber because her airway becomes narrow or blocked. About 1 in two (50 percent) to 3 in 4 babies with Down syndrome (75 percentage) have obstructive slumber apnea. Snoring is the nigh mutual sign of obstructive sleep apnea. All children with Down syndrome should be checked for obstructive sleep apnea, even if they don't snore. This tin exist washed during an overnight slumber study in a special sleep lab to check for sleep problems. Your kid wears sensors, and a team of health intendance providers checks your kid's breathing, blood oxygen levels, heart rate and brain waves while she sleeps. Treatment for sleep disorders may include wearing a special mask to assistance your child breathe during sleep. Sometimes obstructive sleep apnea happens when a child's tonsils and adenoids are as well big. Tonsils and adenoids are lymph tissues near the throat that assist protect the body from infection. Your kid may need surgery to remove his tonsils and adenoids.
• Vision bug. More than half of children with Down syndrome take vision issues. Some children with Downward syndrome have cataracts. This is when the lens of the center is cloudy instead of clear, making it hard to see. An eye dr. chosen a pediatric ophthalmologist checks your baby's vision after nativity. Children with Down syndrome need regular middle exams. They may need glasses, surgery or other treatments to help improve their vision.

Some children with Down syndrome have other weather, including:

• Claret disorders. Your infant gets regular claret tests to check for problems, like low iron or anemia. Anemia is when y'all don't have enough good for you ruby-red blood cells to carry oxygen to the balance of your body. It's rare, but some children with Down syndrome may develop a claret cancer called leukemia. These children are treated by a pediatric hematologist-oncologist, a doctor who treats children with claret disorders and cancer. They may demand chemotherapy (medicines used to treat cancer).
• Dental problems. Your baby may develop teeth more slowly, in a different club or accept fewer teeth than other children. Health intendance providers recommend that babies with Down's syndrome get checked by a dentist inside six months of getting their commencement tooth or by historic period 1.
• Infections. Babies with Down syndrome tend to get sick often because their bodies have trouble fighting off infections. Make certain your baby gets all of her vaccinations on time. Vaccinations assistance protect your baby from certain diseases.
• Low muscle tone. Babies with depression muscle tone may have trouble with sucking, feeding, swallowing and having bowel movements. If your baby has poor muscle tone, she may have delays in meeting developmental milestones, like rolling over, sitting up, itch and walking.
• Problems with digestion and the intestines, like Hirschsprung disease. The intestines are long tubes that are part of your digestive organization. Your digestive arrangement helps your trunk interruption down food, take in nutrients and remove waste matter. 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 bug. Basic in the neck or spine can exist unstable and increase your kid's gamble of spinal string injury. Some children demand surgery.
• Hip problems. Children with Downward syndrome may be at higher risk for hip dislocation. This is when the thigh os slips out of place at the hip.
• Thyroid problems. The thyroid is a gland in your cervix that makes hormones (chemicals) that aid your body store and use energy from food. Babies with Down's syndrome may have hypothyroidism. This is when the thyroid gland doesn't make plenty thyroid hormone. If non treated, this can impact your baby'south growth and development. Your baby gets checked for thyroid problems as part of newborn screening and has follow-upward tests every year. Thyroid problems are treated with medicine.
• Epilepsy. Children with Down syndrome are more likely to take epilepsy. This is a seizure disorder that affects how the nerve cells in your encephalon work. A seizure is sudden, aberrant electrical activity in the brain that can cause changes in behavior, movement, feelings and consciousness. Seizures are treated with medicine.
• Mental health and emotional problems. Children with Down's syndrome may have behavioral and emotional problems like anxiety, depression and attention deficit hyperactivity disorder (also called ADHD). Children with ADHD may have trouble paying attending and controlling behaviors or be overly active. Treatment may include intendance from a mental health professional. This is a person with training and education to aid people with emotional or mental health problems.
• Microcephaly. This is a nascence defect in which a baby'due south head is smaller than expected, compared to babies of the same sexual practice and age. Some babies with microcephaly accept smaller brains that may non develop properly. To diagnose microcephaly if your baby has Down syndrome, your baby's provider measures your baby's head circumference and compares it to other babies' head measurements. Caput circumference is the distance around the elevation of your infant's caput.

More than information

• Linda Crnic Institute for Down's syndrome
• National Down's syndrome Congress
• National Down Syndrome Society
• National Gild of Genetic Counselors

Last reviewed: February 2020

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

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