BIRTH DEFECTS

If your baby is born with a birth defect or other health condition, he may need special care at birth and later in life. You may be worried and have lots of questions. It’s OK to feel this way.

Birth defects are health conditions that are present at birth. They change the shape or function of one or more parts of the body. Birth defects can cause problems in overall health, how the body develops or how the body works. Statistics for Kosovo are not available, but to give you a sense of how common they are, one in every 33 babies in the United States is born with a birth defect. Applying that same percentage would mean almost 1,000 babies born each year in Kosovo have a birth defect.

Learn about some of the most common birth defects here; what they are, how they happen and how they are treated. Find out how to prevent certain birth defects and other health conditions. If you want more information on other less common birth defects, visit March of Dimes.

Can birth defects be prevented?

Most babies born with birth defects are born to two parents with no apparent health problems or risk factors. However, some birth defects can be prevented. Here’s how:

  1. Take at least 400mcg of folic acid daily for at least one month before getting pregnant and 600-800mcg during pregnancy. You can typically find this in prenatal vitamins, but check the dosage. Foods high in folic acid include some fortified cereals, lentils and dried beans/peas, nuts, avocado, dark green vegetables (broccoli, spinach, collard or turnip greens, okra, brussels sprouts, and asparagus) and citrus fruit and 100% juice. Getting enough folic acid can reduce the risk of your baby having a neural tube defect, like spina bifida, by as much as 70%, and reduce the risk of your baby getting an oral clefts by 25%.
  2. Visit the doctor when planning to get pregnant and as soon as you think you are pregnant. It’s essential to visit the doctor regularly throughout your pregnancy (at least four times). They will conduct important tests on you and your baby which will help to identify any possible complications, and they can also tell you how to best take care of yourself and your unborn baby during this important time.
  3. Avoid alcohol when pregnant. Since there is no known safe amount of alcohol to use during pregnancy, experts recommend not to drink alcohol at all to keep risks to your baby to a minimum. Risks include miscarriage, stillbirth, and numerous physical, behavioral, and intellectual disabilities. The risks are greater the more you drink. Drinking heavily can cause fetal alcohol syndrome, which leads to lifelong issues with poor growth, facial abnormalities, and learning and behavioral problems. You might have drunk alcohol before even realizing you’re pregnant. There is no need to worry unnecessarily as risks to your baby are likely to be low, but you should avoid further drinking.
  4. Don’t smoke and avoid secondhand smoke (when you inhale smoke from person/s smoking near you). Exposure to smoke can cause cleft lip/palate and other dangers like preterm birth and infant death. It’s best to quit before getting pregnant, but if you are already pregnant and smoking, you can still protect your baby by quitting as soon as possible.
  5. Prevent infections by frequent hand-washing with soap, thoroughly cooking meat, and avoiding people who are sick. You should also be active to avoid sexually transmitted diseases and if you are exposed, get treatment immediately. Infections can cause a range of birth defects.
  6. Manage any adverse health conditions, such as asthma, diabetes, high blood pressure, stress and weight. Talk to your doctor about how you can do this before and during pregnancy. This will reduce your risk of having a child born with a birth defect or other poor health outcome.
  7. Avoid toxic substances before and during pregnancy. This applies to both the men and women as it may increase the risk of a large range of birth defects that affect many aspects of the baby’s development, including his brain, spinal cord, urinary tract, heart, nervous system, among others.
  8. Avoid certain medications, including prescription and over-the-counter medications and dietary or herbal products. Check with your doctor before getting pregnant or as early as possible in your pregnancy. They might be able to recommend an alternate that is compatible with pregnancy.

Take 250mcg of iodine daily when pregnant. You can typically find this in prenatal vitamins, but check the dosage. Foods high in iodine include iodized salt, seafood and dairy products. But don’t take too much. Taking too much or too little iodine can increase the risk of thyroid-related disorders and mental delays.

The following information on specific birth defects is provided courtesy of March of Dimes (adapted for Kosovo). For more information on these and other birth defects, visit March of Dimes’ website. (links to http://www.marchofdimes.org/complications/birth-defects-and-health-conditions.aspx)

Autism spectrum disorder

Autism spectrum disorder (also called ASD) is a developmental disability that can cause major social, communication and behavior challenges. ASD is almost 5 times more common in boys than in girls. More people are being diagnosed with ASD today than ever before. We’re not sure exactly why, but it may be because of several reasons, including that ASD is being defined more broadly, and people are more aware of ASD so more children are checked for it, even those with less severe symptoms.

How does it affect your baby?

People with ASD may communicate, interact, behave and learn in ways that are different from most other people. Some people with ASD have strong skills in learning, thinking and solving problems; others have severe challenges with these skills. Some people with ASD need a lot of help in their daily lives, but others need less help.

It's really important to learn the signs and symptoms of ASD and get help for your child right away if you think he has ASD. Getting early intervention services as soon as possible can help improve your child’s development. These services can help children from birth through three years old learn important skills. Services include therapy to help a child talk, walk, learn self-help skills and interact with others. Check with your baby’s doctor for available services. 

Some of the signs and symptoms of autism spectrum disorder include:

  • Problems with joint attention are one of the most early and common signs of ASD. Joint attention is when your child looks back and forth between an object (or event) and a person. When a child does this to share interest and interact with another person, he develops skills that help him connect with other people. Most children with ASD have delays in joint attention skills, or they don’t have any joint attention skills.
  • Communication challenges. Some children with ASD can’t speak at all or speak very little. About 40% of children with ASD don’t speak at all. Other children with ASD speak well. Some children have trouble talking to other people or may seem unaware when people talk to them but respond to other sounds. They might repeat or echo words or phrases or talk in an unusual way (flat/robot-like, sing-song or high-pitched voice).
  • Social challenges. These include avoiding eye contact or making very little eye contact, not responding to his name by 12 months old, not responding to a parent’s smile or other facial expressions, not looking at objects when someone points to them or doesn’t point at objects to show interest (like pointing at an airplane flying in the sky), trouble understanding other people’s feelings or talking about his own feelings, interest in people but not knowing how to talk/play/relate to them, not having interest in other people or wanting to play alone.
  • Behavior challenges. Some children with ASD don’t play “pretend” games (like pretending to feed a doll), gets upset by changes in routines (like making an unplanned stop on the way home from school), has unusual interests or behaviors (like lining up toys or objects without playing with them or being really interested in vacuum cleaners), is very sensitive or not sensitive at all to the way things feel/sound/taste/smell, is overly focused on one thing or activity and does the activity many times during a day, is very interested in certain things (like numbers, symbols or certain subjects) and remembers lots of information about these things, repeats actions over and over again, like flapping his hands, rocking his body or walking on his toes
  • Other challenges. These include being hyperactive (very active) or having trouble sitting still or paying attention, impulsive (acts without thinking first), not being afraid of dangerous things but is very afraid of harmless things, is violent, has temper tantrums often or hurts himself (like by banging his head or biting himself), has unusual eating or sleeping habits (some children with ASD may eat just a few foods).

How is it diagnosed?

ASD can be hard to diagnose. There’s no medical test, like a blood test, to check for ASD. No two children with ASD have the exact same signs or symptoms. Providers diagnose ASD by looking at your child’s behavior and development.

Children with ASD usually show signs or symptoms when they’re 12 to 24 months old, but some may have them earlier or later. Some children with ASD develop normally until they’re around 18 to 24 months old, but then they stop gaining new skills or lose the skills they once had. This is called regression.

Babies may show signs of ASD before their first birthday if they have severe developmental delays. Developmental delays are when your child doesn’t reach developmental milestones when expected. A developmental milestone is a skill or activity that most children can do at a certain age. Milestones include sitting, walking, talking, having social skills and having thinking skills. Tell your baby’s doctor if your baby isn’t meeting her milestones (click here for a guide by age) . It’s not unusual for a healthy baby to fall behind in some areas or move ahead in others. But babies who don’t meet these milestones need their development checked more closely by a doctor.

Most children with ASD don’t have problems with early developmental milestones, like crawling and walking on time. But they may have delays in other areas, like communication, social and behavior skills. If your child shows signs or symptoms of ASD, it doesn’t always mean he has ASD. Children with ASD may have different signs and symptoms, and they may not have all the signs and symptoms.

At each well-child visit, your baby’s doctor should look for developmental delays or problems and talks with you about any concerns you may have about your baby’s development. Children should be assessed by their doctor for developmental delays and disabilities at 9 months, 18 months and 24 or 30 months. You can ask your doctor to do these tests if they don’t automatically offer them.

What are the causes?

We don’t know all the causes of ASD. Research suggests that ASD may develop in a child around the time of birth—before, during and immediately after. More research is needed, but these things may play a role:

  • Having pregnancy complications that lead to low birthweight, premature birth or cesarean birth.
  • Taking certain prescription medicines, like valproic acid (treats epilepsy and other neurological disorders) or thalidomide (treats certain types of cancer), during pregnancy.
  • Having an older parent. Babies born to older parents are more likely to have ASD.
  • Having genes linked to ASD. Genes are passed from parents to children. Children who have a brother or sister with ASD are more likely to have ASD themselves.
  • Having a genetic or chromosomal condition.

 

Vaccinations DO NOT cause autism spectrum disorder. You may have heard about vaccines that contain thimerosal, a chemical that has mercury in it. Research shows that thimerosal in vaccines does not cause autism. Thimerosal is no longer used in vaccines, except in some flu shots.

Can it be prevented?

In most cases, ASD is out of anyone’s control. But while you can’t change genetics, you can do some things that might reduce your risk of having a baby that develops ASD. But keep in mind, that ASD is a complex disorder and there is still a lot we don’t’ know about causes and prevention.

  • Check your medications with your doctor about if they are safe during pregnancy.
  • Avoid exposure to toxic chemicals and environmental pollution.
  • Keep healthy to limit your likelihood if developing pregnancy complications. This includes taking a vitamin supplement containing 400-800mcg of folic acid daily and avoiding infections.

What is the treatment?

There is no cure for ASDs. But some children can do well when they get treatment as soon as possible. In addition to early intervention services, children with ASD may need other kinds of treatment, including:

  • Medicines. While medicines can’t cure ASD, certain medicines can help some children with ASD to function better. No two children with ASD are exactly alike, but talk to your child’s provider to see if any medicines may help your child.
  • Behavior and communication treatment options and therapies. These include: Applied behavior analysis; Developmental, individual differences, relationship-based approach (also called “floortime”); Occupational therapy (helps a child learn skills like dressing, eating, bathing and relating to people); Sensory integration therapy; and, Speech and language therapy.
  • Complementary and alternative medicine, (CAM), which uses treatments that are different from what a pediatrician typically recommends. Special diets are one kind of CAM for children with ASD, but there isn’t enough research to recommend them.

Cleft lip and palate

A cleft lip is a birth defect in which a baby's upper lip doesn’t form completely and has an opening in it. A cleft palate is a similar birth defect in which a baby’s palate (roof of the mouth) doesn’t form completely and has an opening in it. These birth defects are called oral clefts. Some babies have just a cleft lip, but most babies with a cleft lip also have a cleft palate. Some babies have only a cleft palate, which is called an isolated cleft palate.

How does it affect your baby?

Some babies with cleft lip have just a small notch in the upper lip. Others have a complete opening or hole in the lip that goes through the upper gum to the bottom of the nose. A cleft lip can happen on one or both sides of a baby’s mouth.

A cleft palate can affect the soft palate (the soft tissue at the back of the roof of the mouth) or the hard palate (the bony front part of the roof of the mouth). A cleft palate can happen on one or both sides of a baby’s palate.

Babies and children with oral clefts may have:

  • Feeding problems
  • Ear infections and hearing loss
  • Speech problems
  • Dental problems

What are the causes?

We’re not sure what causes oral clefts. Some possible causes are:

  • Changes in your baby’s genes. Genes are part of your baby’s cells that store instructions for the way the body grows and works. They provide the basic plan for how your baby develops. Genes are passed from parents to children.
  • Not getting enough folic acid before pregnancy. Folic acid is a vitamin that can help protect your baby from birth defects of the brain and spine called neural tube defects. It also may reduce the risk of oral clefts by about 25%.
  • Taking certain medicines, like anti-seizure medicine, during pregnancy
  • Smoking during pregnancy.
  • Drinking alcohol during pregnancy
  • Having certain infections during pregnancy

Can it be prevented?

Not all oral clefts can be prevented. But there are things you can do to help reduce your chances of having a baby with an oral cleft:

  • Before pregnancy, get a preconception checkup. This is a medical checkup to help make sure you are healthy before you get pregnant.
  • Before pregnancy, take a multivitamin with 400mcg of folic acid every day.
  • During pregnancy, take a prenatal vitamin with 600mcg of folic acid every day.
  • Talk to your doctor to make sure any medicine you take is safe during pregnancy. Your doctor may want to switch you to a different medicine that is safe during pregnancy.
  • Don’t smoke.
  • Don’t drink alcohol.
  • Get early and regular prenatal care.

What is the treatment?

In most cases, oral clefts can be repaired by surgery. Each baby is unique, but surgery to repair cleft lip usually is done at 10 to 12 weeks of age. Surgery for cleft palate usually is done between 9 and 18 months of age. Your child may need more surgery for oral clefts as he grows.

Can other birth defects happen along with oral clefts?

Yes. There are about 400 health conditions (called syndromes) that are related to oral clefts. If your baby has an oral cleft, his provider checks him thoroughly for other birth defects soon after birth.

Are oral clefts more common in some families?

Yes. If you have family members with oral clefts, you may be more likely to have a baby with an oral cleft. If neither you nor your partner has a cleft but your baby does, and if your baby doesn’t have any kind of syndrome, the chance of you having another baby with a cleft is about 2 to 5 out of 100 (2 to 5 percent).

If you have a family history of oral clefts, or if you’ve had a baby with oral cleft, you can meet with a genetic counselor to find out the chances of having a baby with oral cleft. To find a genetic counselor, you can ask your provider or contact the National Society of Genetic Counselors.

Congenital heart defects

Congenital heart defects are heart conditions that a baby’s born with. These conditions can affect the heart’s shape or how it works, or both. Congenital heart defects are the most common types of birth defects. Critical congenital heart disease (CCHD) must be treated within the first few hours, days or months of life as without treatment it can be deadly If your baby’s doctor thinks your baby has a congenital heart defect or CCHD, she can refer you to a pediatric cardiologist. This is a doctor who treats babies and children with heart problems.

How does it affect your baby?

Heart defects can affect different parts of your baby’s heart, including:

  • Septum. This is the wall that splits the right and left sides of the heart.
  • Heart valves. These open and close to control blood flow to and from the heart.
  • Arteries and veins. Arteries are blood vessels that carry blood away from the heart to the body. Veins are blood vessels that carry blood from the body to the heart.

Heart defects can affect your baby’s blood flow, causing blood to:

  • Slow down
  • Go in the wrong direction or to the wrong place
  • Be blocked completely

What are the causes?

Heart defects develop in the early weeks of pregnancy when the heart is forming, often before you know you’re pregnant. We’re not sure what causes most congenital heart defects, but these things may play a role:

  • Medical conditions in the mother, like diabetes, lupus, rubella (German measles) in the first 3 months of pregnancy, being obese (very overweight) and phenylketonuria.
  • Changes in genes or chromosomes. About 30% of babies with a heart defect also have a chromosomal condition or a genetic condition (like down syndrome). If you, your husband or one of your other children has a congenital heart defect, your baby may be more likely to have one, too.
  • Conditions in your everyday life may increase your chances of having a baby with congenital heart defects. These include smoking or drinking alcohol and taking certain medicines. Talk to your doctor about these things and your risk factors.

Can it be prevented?

Because we are not sure what causes it, you can only hope to reduce your chances of having a baby with a congenital heart defect by managing your (the mother’s) medical conditions (explained above), not smoking or drinking just before and during pregnancy, and avoiding certain medicines.

How is it diagnosed?

Severe congenital heart defects usually are diagnosed during pregnancy or soon after birth. Less severe heart defects often aren’t diagnosed until children are older.

  • During pregnancy your doctor may use a test called fetal echo to check your baby’s heart. This test makes a picture of your baby’s heart while still in the uterus (womb). You can have this test as early as 18 to 22 weeks of pregnancy.
  • After birth your baby may be tested for CCHD as part of newborn screening before he leaves the hospital after birth. Newborn screening checks for serious but rare conditions at birth. It includes blood, hearing and heart screening.

After birth, signs and symptoms of heart defects can include:

  • Fast breathing
  • Gray or blue skin coloring
  • Fatigue (feeling tired all of the time)
  • Slow weight gain
  • Swollen belly, legs or puffiness around the eyes
  • Trouble breathing while feeding
  • Sweating, especially while feeding
  • Abnormal heart murmur (extra or abnormal sounds heard during a heartbeat)

If your baby shows any of these signs or symptoms, call her doctor right away.

What is the treatment?

Procedures varying depending on the type and severity of congenital heart defect. It could include medicines, procedures with catheters, surgery and/or heart transplant. Lifelong medical care might be required.

Cytomegalovirus (CMV)

Cytomegalovirus (CMV) is a herpes virus. This is a large group of viruses that can cause different kinds of diseases and health problems. Most people get CMV at some point in their lives, most often during childhood. CMV is a very common congenital infection. Congenital means that it’s something a baby’s born with.

How does it affect your baby?

Most babies born with CMV don’t have serious health problems from the virus. In fact, 80% never have symptoms or problems caused by the infection. About 15% develop one or more disabilities during the first few years of life. These disabilities can include hearing loss, intellectual disabilities (problems with how the brain works that can cause a person to have trouble learning, communicating, taking care of himself and getting along with others), and vision loss.

How is it diagnosed?

If you’re pregnant and have CMV, you can have prenatal tests to see if your baby has CMV. After birth, your baby’s doctor can test your baby’s body fluids within three weeks of birth to check for CMV. Most babies born with CMV appear healthy. But about 10% have signs and symptoms of CMV at birth. These include:

  • Enlarged liver or spleen
  • Jaundice (yellowing of the skin and eyes) or liver problems
  • Low birthweight (when a baby weighs less than 2.5kg)
  • Premature birth (birth that happens too early, before 37 weeks of pregnancy)
  • Feeding problems
  • Rash
  • Seizures
  • Small size
  • Swollen lymph nodes

Older babies and children usually don’t have CMV symptoms. But some may have:

  • A sore throat
  • Fever that lasts for a few days
  • Swollen glands
  • Fatigue (extreme tiredness)

Call your baby’s doctor if you think your baby may have CMV.

What are the causes?

You can pass CMV to your baby at any time during pregnancy. It’s more likely to cause problems for your baby if it happens in the early part of pregnancy. You also can pass CMV to your baby during labor and birth and during breastfeeding. If your baby gets the virus during these times, he’s less likely to have health problems than if he gets the virus during pregnancy.

Can it be prevented?

Mothers can pass the CMV virus to their baby during pregnancy through the placenta. This happens when the mother experiences a first-time infection, a reinfection with a different CMV strain (variety), or a reactivation of a previous infection during pregnancy. To limit her exposure, the mother can:

  • Wash her hands often with soap, especially after contact with bodily fluids (e.g. diaper contents, saliva, tears) of children.
  • Avoid sharing food, drink and kitchen utensils.
  • Clean any surfaces, such as toys and countertops, that come into contact with children's urine or saliva.

What is the treatment?

Even though most babies aren’t harmed by CMV, all babies born with the virus need regular hearing and vision tests. Babies born with CMV may be treated with antiviral medicines. These medicines kill infections caused by viruses. This treatment usually happens in a hospital.

Down Syndrome

Down syndrome (also called trisomy 21) is perhaps the most common chromosomal condition. A chromosomal condition happens when there’s a problem in one 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.

Many children with Down syndrome lead healthy, active lives. They go to school, play sports and enjoy being social with others. A person with Down syndrome may live 60 years or more.

For more information about children with Down syndrome in Kosovo, including support and resources for parents, contact Down Syndrome Kosova.

How does it affect your baby?

Most babies with Down syndrome have distinct physical characteristics, including some, but not all of these characteristics:

  • 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 eye
  • A short neck
  • Small hands and feet.
  • Small ears that may fold over a little at the top
  • Low muscle tone (also called hypotonia) or loose joints. Babies with Down syndrome have low muscle tone at birth. They may seem floppy and have poor head control.
  • Short height

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

  • Congenital heart defects. These are heart conditions a baby’s born with that can affect the heart’s shape or how it works, or both. About half of babies with Down syndrome have congenital heart defects.
  • Hearing loss. This is when your baby can’t hear sound in one or both ears. About 75% have hearing loss.
  • Intellectual and developmental disabilities. These are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others.
  • Vision problems. More than half of children with Down syndrome have vision problems.
  • Some children with Down syndrome have other conditions, including blood disorders, dental problems, infection,. Microcephaly, problems with the intestines, neck or spine problems, and thyroid problems.

How is it diagnosed?

You can find out during pregnancy if your baby has Down syndrome through your regular prenatal care (medical care during pregnancy). You can decide if you want to have a test for Down syndrome. There are two types of tests:

  1. Screening tests. These tests check if your baby is more likely than others to have Down syndrome. There are no risks to you or your baby when you have a screening test, but they don’t tell you for sure if your baby has a condition like Down syndrome. IN the first trimester, this involves a blood test and ultrasound at 11-14 weeks pregnancy. In the second trimesterthis involves a blood test at 15-20 weeks (also called ‘quad screen’). There is also Cell-free DNA testing (also called noninvasive prenatal screening or testing or NIPT). This test checks your blood for your baby’s DNA to see if he may have Down syndrome. You can have this test as early as 10 weeks of pregnancy. If you’re at high risk of having a baby with Down syndrome, your doctor may recommend this test. It’s not recommended if you aren't likely to have a baby with a birth defect or if you’re pregnant with multiples (more than one baby, like twins or triplets).
  2. Diagnostic tests. These tests tell you for sure if your baby does or doesn’t have Down syndrome. If a screening test shows your baby is at high risk of Down syndrome, your doctor may recommend a diagnostic test to confirm the results. There is a risk of miscarriage with diagnostic tests.

If you or your partner has a family history of Down syndrome, tell your doctor.

Diagnostic tests for Down syndrome include; Amniocentesis (also called amnio), which takes some amniotic fluid from around your baby in the uterus at 15 to 20 weeks of pregnancy; Chorionic villus sampling (also called CVS), which checks tissue from the placenta at 10 to 13 weeks of pregnancy; and, Cordocentesis (also called percutaneous umbilical cord sampling or PUBS), which involves inserting a thin needle into an umbilical cord vein to take a small sample of your baby’s blood  at 18 to 22 weeks of pregnancy. There’s a much greater risk of miscarriage with cordocentesis than with amnio or CVS, so you only get this test if other tests are unclear and your provider can’t confirm your baby has Down syndrome any other way.

After birth, your baby’s doctor gives your baby a physical exam and checks for common physical characteristics of Down syndrome. To confirm your baby has Down syndrome, she sends a sample of your baby’s blood to a lab for testing.

What are the causes?

Each person has 23 pairs of chromosomes in every cell in their body. For each pair, you get one chromosome from your mother and one chromosome from your father. Babies with Down syndrome have an extra copy of chromosome 21. This extra copy changes the way the brain and body 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 man’s sperm gets inside a woman’s egg to make her pregnant. One kind of Down syndrome (called translocation Down syndrome) can be passed from a parent to a child, but it’s rare.

Your age when you get pregnant affects your risk of having a baby with Down syndrome. The older you are, the higher your risk. If you get pregnant:

  • At age 25, your risk of having a baby with Down syndrome is 1 in 1,340.
  • At age 30, your risk is 1 in 940.
  • At age 35, your risk is 1 in 353.
  • At age 40, your risk is 1 in 85.
  • At age 45, your risk is 1 in 35.

If you already have a baby with Down syndrome, your risk for having another increases with each pregnancy. Up to age 40, for each pregnancy your chances of having another baby with Down syndrome is about 1 in 100 (1 percent). After age 40, the risk is based your age.

Can it be prevented?

There is no way to prevent Down syndrome.

What is the treatment?

Early treatment, in the form of speech therapy, occupational therapy and exercises to improve motor skills, can help improve the quality of life for children with Down syndrome and help them to have productive adult lives. For more information about treatment options in Kosovo, contact Down Syndrome Kosova.

Neural tube defects

Neural tube defects (NTDs) are birth defects of the brain and spinal cord. A baby’s neural tube normally develops into the brain and spinal cord. It starts out as a tiny, flat ribbon that turns into a tube by the end of the first month of pregnancy. NTDs happen if the tube doesn’t close completely. NTDs can cause serious problems for babies, including death. There are three primary types:

  • Spina bifida is the most common NTD. In this condition, the tiny bones of the vertebrae do not close completely, and a part of the spinal cord pokes through the spine.
  • Anencephaly is one of the most severe NTDs. Anencephaly occurs when the upper part of the neural tube that forms the brain does not close completely. Girls are three times more likely than boys to have anencephaly.
  • Encephalocele is a rare NTD that affects the brain and skull. 

How does it affect your baby?

Children with spina bifida may have paralyzed legs and problems controlling their bladder and bowel (going to the bathroom). There also are milder forms of spina bifida that cause fewer problems for children.

Babies with anencephaly are missing major parts of the brain, skull and scalp, and do not survive long after birth, usually for just a few hours. Babies with this condition often have other birth defects of the head and face, as well as defects in other parts of the body.

How is it diagnosed?

Doctors routinely offer pregnant women screening tests to help identify babies that are at increased risk of having an NTD. These screening tests include:

  • Quad screen. This blood test measures four substances in a mother’s blood to tell if her pregnancy is at an increased risk of having an NTD, other than encephalocele.
  • Ultrasound. This test can help detect pregnancies at increased risk of encephalocele and other NTDs.

If a screening test shows an increased risk of NTDs, your doctor may recommend additional tests, such as amniocentesis and a detailed ultrasound of the baby’s skull and spine.

What are the causes?

We’re not exactly sure what causes NTDs. There may be one or several causes, including:

  • Genetics. This means a baby inherits the condition from his parents. Parents pass traits like eye and hair color and sometimes birth defects to their children through genes.
  • Environment. This is things that you come in contact with in everyday life. Some can be harmful to a pregnancy, like air pollution, lead and cigarette smoke.

Anyone can have a baby with an NTD. But some are more likely than others:

  • Couples with a family history of NTDs. This means you’ve already had a baby with an NTD or someone in your family has had a baby with an NTD. A couple with one child with an NTD has a 4% of having another baby with an NTD. A couple with two affected children has a 10% chance of having another baby with an NTD.
  • Women who take certain anti-seizure medications. If you take medicine to prevent seizures, talk to your doctor before you get pregnant about how the medicine may affect your pregnancy.
  • Women who are obese. Some studies show that being obese increases your risk for having a baby with an NTD. Talk to your doctor about getting to a healthy weight before pregnancy.
  • Women who have diabetes. Diabetes is a medical condition in which your body has too much sugar (called glucose) in their blood.

Can it be prevented?

Taking the B-vitamin folic acid can help prevent NTDs. It’s important to have enough folic acid in your system before pregnancy and during early pregnancy, before the neural tube closes (at the fourth week of pregnancy).

Take at least 400 micrograms (mcg) of folic acid every day before pregnancy and 600-800mcg during pregnancy. You can take up to 1,000 micrograms each day. But don’t take more than 1,000 micrograms unless you talk to your doctor first.

If you’ve already had a pregnancy affected by an NTD, you need even more folic acid. Take at least 4,000 micrograms of folic acid each day, starting at least 1 month before pregnancy and during the first trimester of pregnancy. Studies show that taking this amount before and during early pregnancy can help reduce your risk of having another baby with an NTD by about 70%. Women with spina bifida, diabetes or seizure disorders also need this much folic acid every day. Talk to your doctor about how to get this much folic acid.

Some foods have folic acid added to them. Look for the word “fortified” or “enriched” on the package label. Foods with added folic acid include bread, breakfast cereal, cornmeal, flour, pasta, and white rice. You also can get folic acid from some fruits and vegetables. When folic acid is naturally in a food, it’s called folate. Good sources of folate are beans, leafy green vegetables and orange juice. You have to eat a lot of these foods to get the right amount of folic acid every day. So even if you eat them, remember to take your vitamin, too.

What is the treatment?

Treatment for Spina bifida depends on its severity. Spina bifida occulta often doesn't require treatment at all, but other types require surgery before or after birth. Unfortunately, surgery doesn’t fully fix the condition and further operations might be needed to manage various complications. In addition, continued paralysis and bladder and bowel problems require treatment soon after birth.

Unfortunately, there is no treatment for anencephaly.

Babies with encephalocele generally need surgery to place parts of the brain back inside the skull and close the opening. They might also need surgery to drain excess fluid.

Rh disease

Rh disease is a dangerous kind of anemia. Anemia is when a person doesn’t have enough healthy red blood cells to carry oxygen to the rest of the body. Rh disease (also called Rh incompatibility) happens when the mother’s blood is Rh-negative and your baby’s blood is Rh-positive. This means your blood and your baby’s blood are incompatible, so it’s not safe for them to mix together. If they do mix, your body makes Rh antibodies that may go from your body through the placenta into your baby’s body, where they attack and destroy her red blood cells. The placenta grows in your uterus (womb) and supplies your baby with food and oxygen through the umbilical cord. Even though you and your baby don’t share blood, a small amount of your baby’s blood can mix with yours during pregnancy.

How does it affect your baby?

Rh disease can cause serious problems for your baby, including:

  • Anemia
  • Brain damage
  • Heart failure
  • Jaundice. Jaundice can make your baby’s eyes and skin look yellow. A baby has jaundice when his liver isn't fully developed or isn’t working. If jaundice is severe and isn’t treated, a baby can develop a kind of brain damage called kernicterus.
  • Stillbirth. Stillbirth is when a baby dies in the womb after 20 weeks of pregnancy.
  • Death after birth

How is it diagnosed?

You can find out if you’re Rh-negative with a blood test. Your doctor gives you a blood test at your first prenatal checkup to see if you’re Rh-negative or Rh-positive. If you’re Rh-negative, your doctor tests your blood with an antibody screen early in pregnancy to find out if you have Rh antibodies. If you’re Rh-negative and your baby may be Rh-positive, your doctor may repeat this test at 28 weeks of pregnancy.

What are the causes?

If you’re Rh-negative and your baby is Rh-positive, she may be at risk for Rh disease.

Your baby is Rh-positive depending on the blood of you and your baby’s father. Here’s how it works:

  • If both you and your baby’s father are Rh-positive: Your baby’s blood is Rh-positive, and there’s no risk of Rh disease in your baby.
  • If both you and your baby’s father are Rh-negative: Your baby’s blood is Rh-negative, and there’s no risk of Rh disease for your baby.
  • If you’re Rh negative and your baby’s father is Rh-positive: Your baby’s blood may be Rh-positive. Your baby is at risk for Rh disease and needs to be checked closely.

Talk to your doctor about having your blood and your baby’s father’s blood tested to find out if your baby may be at risk.

If it’s your first pregnancy, your body usually doesn’t make enough Rh antibodies to harm your baby. But if you get pregnant again, your body produces more antibodies that can cause Rh disease in your baby.

Can it be prevented?

Rh disease is completely preventable. Treatment during pregnancy can protect your baby and future pregnancies.

Rh disease can be prevented in your baby if you get treatment at the right times. If you haven’t developed Rh antibodies, your doctor can give you a shot of Rh immunoglobulin called Rho(D) immune globulin (brand name RhoGAM). RhoGAM can prevent your body from producing Rh antibodies so your baby and future pregnancies won’t get Rh disease. RhoGAM doesn’t work if your body has already started making Rh antibodies in a previous pregnancy. This is why it’s really important to get prenatal care as early as possible in every pregnancy.

If you’re RH-negative, you get RhoGAM:

  • At about 28 weeks of pregnancy
  • Within 72 hours after birth if your baby is Rh-positive or if his Rh is unknown
  • After any situation in which your blood and your baby’s blood may mix, like amnio or CVS, miscarriage, ectopic pregnancy or a hit to your belly.
  • Your provider watches your baby closely during pregnancy to check his health and for signs of anemia. In your third trimester, your provider may use amnio or a special ultrasound called Doppler to check your baby.

What is the treatment?

Most cases of Rh disease can be prevented. But if your baby does have Rh disease, she can be treated to help prevent serious health problems.

If your baby has mild Rh disease, you may be able to have a full-term pregnancy. Full term means your baby is born between 39 weeks and 40 weeks, 6 days. After birth, your baby may need certain medicine, and she may need treatment for jaundice. Sometimes Rh disease is so mild that your baby doesn’t need any treatment. Most babies recover fully from mild Rh disease.

If your baby develops severe Rh disease and severe anemia before birth, you may have to give birth early, before her due date. She may need a blood transfusion with new blood to replace red blood cells that the Rh antibodies destroyed. Babies can get a blood transfusion in the womb as early as 18 weeks of pregnancy; they also can get a transfusion after birth.

If your baby is born with severe jaundice, she needs quick treatment to prevent more serious complications.

Category: Problems for baby

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