Is a Down Syndrome Baby Active in the Womb

KEY POINTS

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

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

• Many people with Down syndrome are good for you, but some need medical intendance for birth defects or other health weather condition.

• Talk to your health care provider or a genetic counselor to larn most testing for Downwards syndrome.

What is Downwards syndrome?

Down syndrome (also chosen trisomy 21) is the well-nigh common chromosomal condition in the United States. A chromosomal condition (likewise called genetic status) happens when there's a problem in 1 or more than chromosomes. Chromosomes are the structures that hold genes. Genes are part of your body's cells that shop instructions for the fashion your body grows and works. Genes are passed from parents to children.

About 1 in 700 babies (less than i percentage) is born with Down's syndrome. Many children with Down's syndrome atomic number 82 healthy, active lives. They can go to school, participate in activities and enjoy existence 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 get one chromosome from your mother and one from your father. Babies with Down syndrome take an actress copy of chromosome 21. This extra copy changes the way the brain and trunk develop.

We don't know for sure why Down's syndrome happens. Information technology may be that the egg or sperm that come up together in fertilization has an extra chromosome. Fertilization is when a human being's sperm gets inside of a woman's egg. This is how a woman gets significant.

These things can touch your risk of having a infant with Down syndrome:

• Your age when yous become pregnant. Your risk of having a baby with Down syndrome increases equally yous get older, especially if yous are historic period 35 or older.
• Existence a carrier of a certain type of Down syndrome. If you or your partner are a carrier of one type of Down's syndrome (translocation Downwards syndrome), you bear (have) a gene change for the status, but y'all don't really take the condition. You tin pass the gene change to your baby, but it'south rare.
• Already having a baby with Down syndrome. If you already have a baby with Down's syndrome, your run a risk for having some other is higher.

Talk to a genetic counselor to sympathize your risk of having a infant with Downward syndrome. A genetic counselor is a person who is trained to help you understand genes, birth defects and other medical conditions that run in families and how they tin can affect your health and your baby's wellness.

What are the different types of Down syndrome?

There are 3 types of Down's syndrome:

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

Tin you discover out during pregnancy if your baby has Down syndrome?

Yes. Health intendance providers offer testing for Down syndrome to all pregnant women as role of regular prenatal care (medical care you become during pregnancy). Y'all tin decide if y'all want to have these tests. Talk to your health care provider or a genetic advisor about testing for Down syndrome.

If you 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 status. Use our family health history form to help y'all discover out if certain health atmospheric condition run in your families.

There are two kinds of prenatal tests to check for Down's syndrome:

1. Screening tests. These are medical tests to see if you're at risk or your baby is at take chances for certain health conditions. A screening test for Down syndrome checks to see if your baby is more likely than other babies to take Downwards syndrome. Screening tests are safe for you and your infant, but they don't tell you for sure if your infant has a condition similar Down's syndrome.
2. Diagnostic tests. These are medical tests to run into if you do or don't have a certain health condition. Diagnostic tests may have more 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 exam shows your baby is at high risk of Down syndrome, your provider may recommend a diagnostic exam to confirm the results.

Screening test results can help you make up one's mind if you want to have a diagnostic test. Information technology is your choice whether or not you want to take diagnostic tests. Y'all may or may not want to know for certain during pregnancy if your baby has Down's syndrome. If you do detect out for sure, you can learn about the condition and so you're prepared when your baby's built-in. You likewise can brand plans for the medical intendance your baby may demand.

What screening tests are used for Down syndrome?

Screening tests for Down's syndrome include:

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

  1. Blood test. This measures the levels of two proteins in your blood: plasma poly peptide-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 higher risk for Downwards syndrome.
  2. Nuchal translucency test. This is an ultrasound to expect for extra fluid at the dorsum of your baby's neck. An ultrasound uses sound waves and a reckoner screen to bear witness a picture of your baby within the womb. Extra fluid may mean a higher risk for Downwardly syndrome
• 2nd trimester screening. You lot go a maternal claret test (also called quad screen) to measure up to four substances in your blood that may show a higher risk for Downwards syndrome: blastoff-fetoprotein (AFP), estriol, HCG and inhibin A. A test measuring iii of these proteins is called a triple screen, and a examination measuring four of these proteins is chosen 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 showtime trimester screening and the second trimester screening to better estimate the chances that your babe may take Downward syndrome.
• Cell-free Deoxyribonucleic acid testing (too called noninvasive prenatal screening or testing or NIPT). This exam checks your blood for your baby's Deoxyribonucleic acid to see if he is at higher risk for Down syndrome. You can have this test every bit early as 10 weeks of pregnancy. Talk to your provider about whether this test 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 baby's blood, amniotic fluid or tissue for testing. There is a pocket-size risk of miscarriage with these diagnostic tests. Miscarriage is when a baby dies in the womb before 20 weeks of pregnancy.

Diagnostic tests for Down's syndrome include:

• Chorionic villus sampling (also called CVS). This test checks tissue from the placenta to see if your babe has a genetic condition, like Down syndrome. You can get CVS at 10 to xiii weeks of pregnancy.
• Amniocentesis (besides chosen amnio). This exam takes some amniotic fluid from around your baby in the uterus (womb) to bank check for birth defects and genetic conditions in your baby. You can get this test at 15 to xx weeks of pregnancy.
• Percutaneous umbilical cord sampling (also chosen PUBS or cordocentesis). This test takes a small amount of your infant'southward claret from the umbilical string to cheque for chromosome defects. You lot tin get this test between 18 and 22 weeks of pregnancy. In that location are greater risks with PUBS than with amnio or CVS, so you only get this examination if other tests are unclear and yous want to confirm whether or non your baby has Downwardly syndrome.

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

After nascence, your baby's provider gives your babe a physical exam and checks for common physical characteristics of Down syndrome. To confirm your baby has Downward syndrome, she sends a sample of your baby's blood to a lab for testing.

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

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

Facial features. Nearly babies with Down's syndrome have some of thesecharacteristics:

• A flattened face, with a flat nose
• 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 part) of the middle

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

• A short cervix
• Pocket-size hands and anxiety. They also may have small pinky fingers that sometimes curve towards the pollex.
• A single line beyond the eye of the palm of the mitt (also called a palmar pucker)
• Minor ears
• Low muscle tone (also chosen hypotonia) or loose joints
• Short height

How does Down syndrome impact your child'southward health and evolution?

Many people with Down syndrome are healthy, but some need special medical care. Common health and development problems in people with Down syndrome include:

• Intellectual and developmental disabilities. These are problems with how the brain works that tin cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others. Babies with Downwardly syndrome may reach developmental milestones later than other babies. A developmental milestone is a skill or action that most children tin can do at a certain age. Milestones include sitting, walking, talking, having social skills and having thinking skills. Getting early on intervention services equally shortly as possible tin can help improve your baby's development as she grows. These services can help children from birth through 3 learn important skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Visit the Early Childhood Technical Aid Heart to notice your state's contact information for early on intervention services.
• Congenital eye defects. These are heart conditions that a baby's born with. These conditions can affect the heart's shape or how information technology works, or both. Almost one-half of babies with Downwards syndrome have congenital heart defects. Like all babies, babies with Down's syndrome go heart screening as part of newborn screening tests before they leave the infirmary after birth. Babies with Down syndrome besides get checked by a pediatric cardiologist, a doctor who treats babies and children with eye problems. If your baby has a congenital centre defect, treatment may include taking medicines or having centre surgery. Sometimes mild heart defects don't need treatment.
• Hearing loss. Hearing loss can happen when any part of the ear isn't working in the usual way. Information technology can range from balmy to profound (when you can't hear whatever speech sounds). About three in 4 babies with Down's syndrome (75 percent) have hearing loss. Like all babies, babies with Down syndrome get screened for hearing loss equally office of newborn screening. Babies with Down syndrome need regular hearing tests. Your babe may need to encounter an ear, olfactory organ and pharynx (also called ENT) doctor who specializes in treating babies and children (called a pediatric ENT). Babies and children with Down syndrome as well may have 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 heart ear and prevent fluids from building upwards behind the ear pulsate.
• Sleep disorders, like obstructive sleep apnea. Obstructive sleep apnea is when your child'south breathing stops and starts during sleep considering her airway becomes narrow or blocked. Virtually 1 in 2 (50 percentage) to iii in 4 babies with Down syndrome (75 percent) have obstructive sleep apnea. Snoring is the well-nigh common 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 can be washed during an overnight sleep written report in a special slumber lab to check for sleep problems. Your kid wears sensors, and a squad of wellness care providers checks your child'due south animate, claret oxygen levels, centre charge per unit and encephalon waves while she sleeps. Treatment for sleep disorders may include wearing a special mask to assist your child exhale during sleep. Sometimes obstructive sleep apnea happens when a child'due south tonsils and adenoids are too large. Tonsils and adenoids are lymph tissues near the throat that aid protect the torso from infection. Your child may need surgery to remove his tonsils and adenoids.
• Vision issues. More than half of children with Down syndrome take vision bug. Some children with Down's syndrome have cataracts. This is when the lens of the eye is cloudy instead of clear, making it hard to run across. An centre doctor chosen a pediatric ophthalmologist checks your babe's vision afterwards birth. Children with Down syndrome demand regular eye exams. They may need glasses, surgery or other treatments to help meliorate their vision.

Some children with Down's syndrome have other conditions, including:

• Blood disorders. Your baby gets regular blood tests to check for problems, like depression atomic number 26 or anemia. Anemia is when you don't have enough healthy red blood cells to carry oxygen to the residual of your torso. It's rare, but some children with Down's syndrome may develop a claret cancer called leukemia. These children are treated by a pediatric hematologist-oncologist, a dr. who treats children with blood disorders and cancer. They may demand chemotherapy (medicines used to treat cancer).
• Dental problems. Your baby may develop teeth more slowly, in a different order or have fewer teeth than other children. Health intendance providers recommend that babies with Down's syndrome become checked past a dentist inside 6 months of getting their first molar or past age 1.
• Infections. Babies with Down syndrome tend to get ill oftentimes because their bodies have trouble fighting off infections. Make certain your baby gets all of her vaccinations on time. Vaccinations help protect your baby from sure diseases.
• Low muscle tone. Babies with low muscle tone may take 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.
• Issues with digestion and the intestines, like Hirschsprung affliction. The intestines are long tubes that are part of your digestive organisation. Your digestive organisation helps your trunk pause downwardly food, take in nutrients and remove waste. Hirschsprung disease happens when the large intestine (also chosen the colon) is blocked. Babies with Hirschsprung disease need surgery to remove part of colon that isn't working well.
• Neck or spine bug. Bones in the cervix or spine tin exist unstable and increase your kid'south risk of spinal cord injury. Some children need surgery.
• Hip issues. Children with Down's syndrome may exist at college risk for hip dislocation. This is when the thigh bone slips out of place at the hip.
• Thyroid problems. The thyroid is a gland in your cervix that makes hormones (chemicals) that help your body store and use energy from food. Babies with Down syndrome may have hypothyroidism. This is when the thyroid gland doesn't make enough thyroid hormone. If not treated, this can impact your infant'due south growth and evolution. Your baby gets checked for thyroid problems as part of newborn screening and has follow-up 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 electrical activity in the brain that can cause changes in beliefs, motility, feelings and consciousness. Seizures are treated with medicine.
• Mental health and emotional problems. Children with Downwards 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 attention and controlling behaviors or exist overly agile. Handling may include care from a mental health professional. This is a person with grooming and educational activity to help people with emotional or mental health problems.
• 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 age. Some babies with microcephaly have smaller brains that may not develop properly. To diagnose microcephaly if your baby has Down syndrome, your baby'due south provider measures your babe's head circumference and compares it to other babies' head measurements. Caput circumference is the distance around the top of your infant's head.

More than information

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

Last reviewed: February 2020

Is a Down Syndrome Baby Active in the Womb

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

Share :