Is the Mother's Health at Risk When Carrying a Baby With Down Syndrome

March 08, 2022 Post a Comment

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KEY POINTS

Babies with Down syndrome have an actress re-create of chromosome 21, which changes how the brain and trunk develop.
People with Downward syndrome may have physical problems, learning problems and distinct physical features.
Many people with Downward syndrome are healthy, merely some need medical care for nascency defects or other health atmospheric condition.
Talk to your health care provider or a genetic advisor to learn most testing for Down's syndrome.

What is Downward syndrome?

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

About ane in 700 babies (less than 1 percentage) is born with Down's syndrome. Many children with Down syndrome lead good for you, active lives. They tin can go to school, participate in activities and enjoy being social with others. A person with Down syndrome may alive 60 years or more.

What causes Down syndrome?

Each person has 23 pairs of chromosomes, or 46 in all. For each pair, you get i chromosome from your mother and one from your father. Babies with Down's syndrome have an extra re-create of chromosome 21. This extra copy changes the style the brain and trunk develop.

We don't know for sure why Downwards syndrome happens. Information technology may exist that the egg or sperm that come up together in fertilization has an actress chromosome. Fertilization is when a man's sperm gets inside of a woman's egg. This is how a woman gets pregnant.

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

Your age when you go pregnant. Your risk of having a infant with Down syndrome increases as you get older, especially if you are historic period 35 or older.
Being a carrier of a certain type of Down syndrome. If you or your partner are a carrier of one type of Down syndrome (translocation Down's syndrome), yous carry (have) a gene change for the condition, but you don't actually take the condition. Y'all can pass the gene change to your infant, but it'southward rare.
Already having a baby with Downwardly syndrome. If you already have a infant with Down syndrome, your take a chance for having another is higher.

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

What are the dissimilar types of Down's syndrome?

There are three types of Down's syndrome:

Trisomy 21. This is the nigh common kind. Virtually 95 in 100 people with Down syndrome (95 percentage) have trisomy 21. In this condition, your baby's cells have three copies of chromosome 21 instead of 2.
Translocation Downwards syndrome. About iii in 100 people with Down syndrome (iii percent) have translocation Down syndrome. This status happens when a person has 2 copies of chromosome 21, but they too accept an extra part of chromosome 21 or a whole extra chromosome 21 that'southward fastened (also called translocated) to a different chromosome. Translocation Down syndrome tin can be inherited (passed from parent to child through genes).
Mosaic Down syndrome. Nearly two in 100 people with Down's syndrome (2 per centum) accept mosaic Down syndrome. People with this status have some cells with three copies of chromosome 21, only other cells have the usual 2 copies. People with mosaic Down syndrome may have fewer characteristics of Down syndrome considering they have some cells with the two copies of chromosome 21.

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

Aye. Health intendance providers offering testing for Down's syndrome to all significant women as part of regular prenatal care (medical care you get during pregnancy). You tin can decide if you desire to have these tests. Talk to your health care provider or a genetic counselor about testing for Down syndrome.

If y'all or your partner has a family history of Down syndrome, tell your health intendance provider or genetic counselor. Family history means that someone in either of your families has the condition. Use our family wellness history class to aid you lot find out if certain health conditions run in your families.

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

Screening tests. These are medical tests to see if you're at take chances or your baby is at take a chance for sure wellness conditions. A screening exam for Down syndrome checks to see if your infant is more likely than other babies to have Downwardly syndrome. Screening tests are safe for you and your babe, but they don't tell you for sure if your babe has a status similar Downwardly syndrome.
Diagnostic tests. These are medical tests to meet if yous do or don't have a certain health condition. Diagnostic tests may have more risks than screening tests, merely they can tell y'all for sure if your baby does or doesn't have Down's syndrome. If a screening test shows your infant is at high risk of Downward syndrome, your provider may recommend a diagnostic test to confirm the results.

Screening test results can help you decide if y'all want to take a diagnostic test. It is your pick whether or not you want to have diagnostic tests. You may or may not desire to know for sure during pregnancy if your baby has Down syndrome. If you do find out for sure, y'all can acquire well-nigh the condition so y'all're prepared when your baby's built-in. You besides can make plans for the medical intendance your baby may demand.

What screening tests are used for Down syndrome?

Screening tests for Downward syndrome include:

Outset trimester screening. Your provider uses these tests to encounter if your babe may exist at chance for Down syndrome and certain other birth defects. The test is usually washed 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 (likewise chosen HCG). If these levels are too high or too low, your infant may exist at college risk for Downward syndrome.
2. Nuchal translucency test. This is an ultrasound to await for extra fluid at the back of your baby's cervix. An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Actress fluid may mean a higher risk for Downward syndrome
2nd trimester screening. Y'all become a maternal blood test (too called quad screen) to measure up to four substances in your blood that may evidence a higher risk for Down's syndrome: alpha-fetoprotein (AFP), estriol, HCG and inhibin A. A test measuring 3 of these proteins is called a triple screen, and a test measuring four of these proteins is called a quad screen. The examination is usually done at xv to 22 weeks of pregnancy.
Integrated screening test. Your provider combines the results from the first trimester screening and the second trimester screening to better estimate the chances that your baby may have Down's syndrome.
Jail cell-gratuitous Deoxyribonucleic acid testing (also chosen noninvasive prenatal screening or testing or NIPT). This test checks your claret for your baby's Deoxyribonucleic acid to meet if he is at higher adventure for Down's syndrome. You lot can have this test as early as 10 weeks of pregnancy. Talk to your provider nigh whether this test is right for you lot.

What diagnostic tests are used for Downward syndrome?

During a diagnostic test, your provider uses a needle to take a sample of your baby'southward blood, amniotic fluid or tissue for testing. At that place is a small take a chance of miscarriage with these diagnostic tests. Miscarriage is when a baby dies in the womb earlier 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 Downward syndrome. Y'all can go CVS at 10 to 13 weeks of pregnancy.
Amniocentesis (too called amnio). This test takes some amniotic fluid from around your baby in the uterus (womb) to check for birth defects and genetic conditions in your baby. You can become this test at xv to xx weeks of pregnancy.
Percutaneous umbilical cord sampling (also called PUBS or cordocentesis). This test takes a small corporeality of your infant's blood from the umbilical string to check for chromosome defects. You tin get this test between 18 and 22 weeks of pregnancy. In that location are greater risks with PUBS than with amnio or CVS, then you lot but go this test if other tests are unclear and y'all want to confirm whether or not your baby has Down syndrome.

How are babies with Downward syndrome diagnosed after nascence?

Afterwards birth, your baby'south provider gives your baby a physical exam and checks for mutual physical characteristics of Down's syndrome. To confirm your baby has Down's syndrome, she sends a sample of your baby's blood to a lab for testing.

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

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

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

A flattened confront, with a flat nose
Almond-shaped eyes that camber upwardly
A small oral fissure
A natural language that may stick out of the mouth
Tiny white spots on the iris (colored part) of the eye

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

A curt neck
Small hands and anxiety. They as well may have small pinky fingers that sometimes curve towards the pollex.
A unmarried line beyond the eye of the palm of the mitt (also called a palmar pucker)
Small ears
Low musculus tone (as well called hypotonia) or loose joints
Curt pinnacle

How does Down's syndrome bear on your child's health and evolution?

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

Intellectual and developmental disabilities. These are problems with how the encephalon works that tin can cause a person to accept trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others. Babies with Down syndrome may reach developmental milestones later than other babies. A developmental milestone is a skill or activity that virtually children can do at a certain historic period. Milestones include sitting, walking, talking, having social skills and having thinking skills. Getting early on intervention services as soon equally possible tin can help improve your baby's development as she grows. These services can assist children from nativity through iii learn important skills. Services include therapy to help a kid talk, walk, learn self-assistance skills and collaborate with others. Visit the Early Childhood Technical Help Center to observe your state'south contact information for early on intervention services.
Congenital centre defects. These are eye conditions that a baby'south born with. These weather can touch on the heart's shape or how it works, or both. Nigh half of babies with Down syndrome have congenital center defects. Like all babies, babies with Downwardly syndrome go heart screening as part of newborn screening tests earlier they leave the hospital afterwards birth. Babies with Down's syndrome also get checked by a pediatric cardiologist, a medico who treats babies and children with middle issues. If your babe has a congenital eye defect, treatment may include taking medicines or having centre surgery. Sometimes mild middle defects don't need handling.
Hearing loss. Hearing loss can happen when any function of the ear isn't working in the usual way. Information technology can range from balmy to profound (when y'all can't hear whatever oral communication sounds). Virtually three in 4 babies with Down syndrome (75 percent) take hearing loss. Like all babies, babies with Down syndrome become screened for hearing loss equally function of newborn screening. Babies with Down syndrome demand regular hearing tests. Your babe may need to see an ear, olfactory organ and pharynx (too called ENT) doctor who specializes in treating babies and children (chosen a pediatric ENT). Babies and children with Down syndrome likewise may have many ear infections, which tin sometimes lead to hearing loss. Your babe may need ear tubes to treat ear infections that won't get abroad with medicine. Ear tubes are tiny tubes placed through the ear drum to allow air into the center ear and prevent fluids from edifice upwards behind the ear drum.
Sleep disorders, like obstructive sleep apnea. Obstructive slumber apnea is when your child's breathing stops and starts during sleep considering her airway becomes narrow or blocked. About 1 in 2 (fifty percent) to three in iv babies with Down syndrome (75 percent) have obstructive sleep apnea. Snoring is the most mutual sign of obstructive sleep apnea. All children with Down syndrome should exist checked for obstructive sleep apnea, even if they don't snore. This can be washed during an overnight sleep study in a special slumber lab to check for sleep problems. Your child wears sensors, and a squad of wellness intendance providers checks your child's breathing, blood oxygen levels, centre 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's tonsils and adenoids are likewise large. Tonsils and adenoids are lymph tissues well-nigh the throat that help protect the body from infection. Your child may need surgery to remove his tonsils and adenoids.
Vision issues. More than than half of children with Downwardly syndrome have vision problems. Some children with Down syndrome have cataracts. This is when the lens of the centre is cloudy instead of clear, making it hard to encounter. An eye md called a pediatric ophthalmologist checks your babe's vision after birth. Children with Downward syndrome need regular eye exams. They may need glasses, surgery or other treatments to help meliorate their vision.

Some children with Down syndrome have other conditions, including:

Blood disorders. Your infant gets regular blood tests to check for problems, like low iron or anemia. Anemia is when yous don't take enough healthy red claret cells to deport oxygen to the residuum of your body. It'due south rare, but some children with Down's syndrome may develop a blood cancer chosen leukemia. These children are treated by a pediatric hematologist-oncologist, a medico who treats children with blood disorders and cancer. They may need chemotherapy (medicines used to care for cancer).
Dental problems. Your baby may develop teeth more slowly, in a different order or have fewer teeth than other children. Health care providers recommend that babies with Down syndrome get checked by a dentist within 6 months of getting their commencement tooth or past historic period 1.
Infections. Babies with Down syndrome tend to go sick oftentimes because their bodies accept problem fighting off infections. Brand sure your baby gets all of her vaccinations on time. Vaccinations help protect your infant from certain diseases.
Low muscle tone. Babies with low 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, crawling and walking.
Problems with digestion and the intestines, like Hirschsprung affliction. The intestines are long tubes that are part of your digestive system. Your digestive system helps your body break down nutrient, accept 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 office of colon that isn't working well.
Neck or spine issues. Bones in the cervix or spine tin exist unstable and increase your child's risk of spinal cord injury. Some children need surgery.
Hip problems. Children with Down syndrome may exist at higher take chances for hip dislocation. This is when the thigh bone slips out of identify at the hip.
Thyroid bug. The thyroid is a gland in your neck that makes hormones (chemicals) that assist your body store 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 non treated, this can affect your baby's growth and development. Your baby gets checked for thyroid bug as function of newborn screening and has follow-up tests every year. Thyroid bug are treated with medicine.
Epilepsy. Children with Down's syndrome are more likely to take epilepsy. This is a seizure disorder that affects how the nerve cells in your brain 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 wellness and emotional problems. Children with Downwards syndrome may have behavioral and emotional issues like anxiety, depression and attention arrears hyperactivity disorder (also chosen ADHD). Children with ADHD may have trouble paying attending and controlling behaviors or be overly agile. Treatment may include care from a mental health professional. This is a person with training and instruction to help people with emotional or mental health problems.
Microcephaly. This is a nativity defect in which a baby's head is smaller than expected, compared to babies of the same sexual practice and age. Some babies with microcephaly have smaller brains that may non develop properly. To diagnose microcephaly if your baby has Down syndrome, your baby's provider measures your babe's caput circumference and compares it to other babies' head measurements. Head circumference is the distance around the top of your infant's head.