Open Neural Tube Defects (ONTDs) in Children

Open neural tube defects (ONTDs) are problems with the way the brain, spinal cord, or spine forms while a baby is growing in the mother’s uterus. These problems occur in about 1 in every 1,500 newborn babies each year.

The types of neural tube defects include:

  • Spina bifida. This is when the spine doesn’t grow normally over the spinal cord. Babies born with spina bifida may have minor or short-term problems. Or they may have lasting (permanent), serious physical problems. These may include paralysis, lack of bowel and bladder control, club feet, a buildup of spinal fluid in the head (hydrocephaly), and intellectual disability. In most cases, a child may need 1 or more surgeries after birth. This is the most common kind of ONTD.
  • Anencephaly. This defect is when part of the brain and skull don’t form. It occurs when the neural tube doesn’t close at the base of the skull. Babies with anencephaly often die in the uterus after 20 weeks of pregnancy (stillborn). Or they only live for a very short time after birth.
  • Encephalocele. This is a very rare condition. With this defect, the brain or its coverings poke through the skull. This can occur anywhere from the forehead to the lower back of the skull. But it may also occur in the front of the skull, near the nose and sinuses.

 

During pregnancy, the brain and spine begin as a flat plate of cells. This plate rolls into a tube, called the neural tube. The tube is completely formed 28 to 32 days after conception. If all or part of the neural tube fails to close, this leaves an opening. The opening is called an open neural tube defect. The opening in the tube may be left exposed or covered with bone or skin.

Neural tube defects are caused by genes passed on from both parents and from environmental factors. Some of these factors include obesity, uncontrolled diabetes in the mother, and some prescription medicines. In most cases, a child with a neural tube defect has no family history of this problem. ONTDs happen 5 times more often in girls than boys.

Once a child with a neural tube defect has been born in the family, the chance that this problem will happen in another child rises to 1 in 25. The type of neural tube defect can differ the second time. For example, one baby could be born with anencephaly. A second baby could have spina bifida instead.

Other risk factors for neural tube defects include:

  • Mother’s age. Spina bifida is more common in teen mothers.
  • History of miscarriage. A woman who has had miscarriages in the past has a higher risk of having a baby with neural tube defects.
  • Birth order. First-born babies are at higher risk.
  • Socioeconomic status. Children born into lower socioeconomic families are at higher risk for spina bifida. Researchers think that poor diet may be a factor.

 

Symptoms depend on the type of ONTD. And they can occur a bit differently in each child.

Symptoms of spina bifida can include:

  • Area on the back that looks abnormal, such as a small hairy patch, dimple, or birthmark, or a pouch-like bulge (sac)
  • No feeling below the place on the spine where the sac is
  • No ability to move the legs (paralysis)
  • Constipation or incontinence

The baby may also have other problems such as:

  • Increased fluid and pressure in the head area (hydrocephalus)
  • Heart problems
  • Bone problems
  • Intellectual disability                                     

Symptoms of anencephaly can include:

  • No bones on the back of the head
  • Missing bones on the front and sides of the head
  • Large areas of brain missing
  • Folding of the ears
  • Split in the roof of the mouth (cleft palate)
  • Congenital heart defects

Symptoms of encephalocele can include:

  • Bulging sac at back of skull
  • Face defects
  • Fluid on the brain (hydrocephaly)
  • Small head
  • Weakness of arms or legs
  • Trouble moving, walking, reaching
  • Intellectual disability
  • Vision problems
  • Delayed growth and development
  • Seizures

The signs and symptoms of open neural tube defects can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

 

ONTDs can be diagnosed before birth with tests that include:

  • Blood test. A test called a quad screen measures 4 substances in the mother’s blood. This can see if there is an increased risk for neural tube defects and other problems. This test is done between 16 and 18 weeks of pregnancy. It measures levels of alpha-fetoprotein (AFP) and other things in the blood. AFP is a protein made by the baby growing in the uterus. If a baby has an open neural tube defect, the AFP level in the mother’s blood will be higher than normal. The test isn’t conclusive. This means it can’t prove that your baby has an open neural tube defect. But it can show if your baby is at risk for one. The test can show if you need more testing. The American College of Obstetrics and Gynecology (ACOG) advises that this blood test be offered to all pregnant women.
  • Prenatal ultrasound. This imaging test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. Ultrasounds let healthcare providers see the internal organs as they function. They also show blood flow through blood vessels. Prenatal ultrasound may be able to find an open neural tube defect. Your provider may also use ultrasound to look at some of the baby’s other organs and body systems.
  • Amniocentesis. This test looks at a small sample of the fluid that surrounds the baby in the uterus. The healthcare provider uses a long, thin needle to reach the amniotic sac. He or she takes the sample of fluid and checks it for AFP. The test may not be able to find small or closed defects.

After birth, a healthcare provider makes a diagnosis with a physical exam.

 

If your baby has an ONTD, you may need to have a cesarean section to deliver your baby. This is often done to lower the risk for damage to the spinal cord that may occur during a vaginal delivery.

If your child has spina bifida or encephalocele, he or she may need surgery to:

  • Fix and close the defect
  • Treat hydrocephalus
  • Treat bone (orthopedic) problems
  • Repair bowel and bladder problems

A baby may also need:

  • Rehabilitation
  • Positioning aids that help the child sit, lie, or stand
  • Braces and splints that help prevent deformity and give support or protection to areas of the body
  • Medicines

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.

There is no cure or standard treatment for anencephaly. Treatment is supportive. This means efforts are made to keep the baby as comfortable as possible. Anencephaly most often leads to death in days or weeks. Grief counseling services are available to help parents cope with the loss of their child.

Babies with spina bifida are at high risk of developing a latex allergy. This is because they are exposed to latex during the many medical and surgical procedures they need. Your baby’s healthcare team will do their best to limit how much latex your baby is exposed to. Your baby’s healthcare providers can help you find out which products contain latex and also find products that are latex-free.

Up to 3 in 4 babies with anencephaly are stillborn. Anencephaly most often leads to death in days or weeks.

 

The neural tube closes 28 to 32 days after a baby is conceived. This is before many women know that they are pregnant. Normal development of the brain and spinal cord may be affected during these first 3 to 8 weeks of pregnancy by:

  • Not getting enough vitamins such as folic acid and other nutrients
  • Infection
  • Using prescription medicine or alcohol
  • Being around hazardous chemicals and other substances
  • Genetic problems

Folic acid is in prenatal vitamins. Getting this vitamin early in pregnancy is important to prevent an ONTD. Researchers have found that a woman who gets enough folic acid (vitamin B-9) can help lower the risk for neural tube defects. Folic acid is found in some leafy green vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals. Experts recommend that all women of childbearing age take a daily multivitamin containing 400 to 800 micrograms of folic acid.

If you have had a child with a neural tube defect, your healthcare provider may recommend taking a larger amount of folic acid before your next pregnancy. Your provider may tell you to take this extra amount for 1 to 2 months before conception and then through the first trimester.

Your healthcare provider may also advise genetic counseling. You can discuss with a counselor the risk of a neural tube defect in a future pregnancy. Also talk with your provider about getting a prescription for folic acid to lower the risk for another open neural tube defect.

 

 Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her capabilities. Physical and occupational rehabilitation, plus extra support in school, can help a child function as well as possible.

If your baby is born with an ONTD, there are things you can do to take care of yourself and your baby:

  • Keep all appointments with your baby’s healthcare provider.
  • Talk with your baby’s healthcare provider about other providers who will be involved in your child’s care. Your child may get care from a multidisciplinary team that may include counselors, social workers, clergy, genetic counselors, and physical or occupational therapists. Your child’s care team will depend on your baby’s condition.
  • Call your baby’s healthcare provider if you are concerned about your baby’s symptoms.
  • Consider genetic testing and counseling to understand your risk.
  • Tell others about your baby’s condition. Work with your child’s healthcare provider to develop a treatment plan.
  • Ask for support from local community services, such as your faith community, and organizations that specialize in birth defects, such as the March of Dimes.

A diagnosis of anencephaly can be overwhelming and upsetting. You will face difficult decisions about how to care for your baby. Because many babies born with anencephaly may not live beyond the first few days or weeks of life, you may have to cope with your baby never coming home from the hospital.

 

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms

 

  • Open neural tube defects (ONTDs) are problems with the way the brain, spinal cord, or spine forms while a baby is growing in the womb.
  • The types of neural tube defects include spina bifida, anencephaly, and encephalocele. Treatment for an ONTD depends on the type of defect your child has.
  • Neural tube defects are caused by genes passed on from both parents and from environmental factors.
  • Symptoms can include a bulging sac on the back of the neck or head, or a very small head.
  • Experts recommend that all women of childbearing age take a daily multivitamin containing 400 to 800 micrograms of folic acid. Getting this vitamin early in pregnancy is important to prevent an ONTD.
  • ONTDs can be diagnosed before birth with tests that include a blood test, prenatal ultrasound, or amniocentesis.

 

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Developmental Dysplasia of the Hip in Children

Developmental dysplasia of the hip (DDH) is a health problem of the hip joint. It’s when the joint hasn’t formed normally, so it doesn’t work as it should. DDH is present at birth. It is more common in girls than boys.

In a normal hip joint, the top (head) of the thighbone (femur) fits snugly into the hip socket. In a child with DDH, the hip socket is shallow. As a result, the head of the femur may slip in and out. It may dislocate. This means it moves partly or completely out of the hip socket.

A combination of things may lead to DDH. It may be partly genetic. DDH tends to run in families. It may also be partly environmental, such as:

  • The baby’s response to the mother’s hormones during pregnancy
  • A tight uterus that makes it hard for the fetus to move around
  • A breech delivery, when the baby is born bottom-first instead of headfirst

First-born babies are at higher risk because the uterus is small and there is limited room for the baby to move. That may affect how the hip develops. Other risk factors are:

  • Family history of DDH, or very flexible ligaments
  • Position of the baby in the uterus, especially the breech position
  • Other orthopedic problems, such as clubfoot

The following are the most common symptoms of DDH. Symptoms can occur a bit differently in each baby. They can include:

  • The leg may appear shorter on the side of the dislocated hip
  • The leg on the side of the dislocated hip may turn outward
  • The folds in the skin of the thigh or buttocks may appear uneven
  • The space between the legs may look wider than normal

The symptoms of DDH may seem like other health problems of the hip. Make sure your baby sees his or her healthcare provider for a diagnosis.

DDH is sometimes noted at birth. A healthcare provider screens newborn babies in the hospital for this hip problem before they go home. But DDH may not be discovered until later checkups.

Your baby’s healthcare provider makes the diagnosis of DDH with a physical exam. During the exam, he or she asks about your baby’s birth history and whether other family members have DDH.

Your baby may also need these tests:

  • X-rays. This test makes images of internal tissues, bones, and organs.
  • Ultrasound (sonography). This test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. It is used to view internal organs as they function and to assess blood flow through various vessels.

Treatment will depend on your baby’s symptoms, age, and general health. It will also depend on how severe the condition is.

The goal of treatment is to put the head of the femur back into the socket of the hip so that the hip can develop normally. Treatment choices vary for babies. They may include:

  • A special device or Pavlik harness. The Pavlik harness is used on babies up to 6 months of age to hold the hip in place, while allowing the legs to move a little. Your baby’s healthcare provider puts the harness on and periodically check its fit. The harness may fix the DDH. But sometimes the hip may still be partly or completely dislocated.
  • Casting. If your child still has DDH, a cast may help.
  • Surgery. If the other methods don’t work, or if DDH is diagnosed at age 6 months to 2 years, your child may need surgery to realign the hip. Your child may then have to wear a spica cast for up to 6 months after surgery. This special cast holds the hip in place as it heals. After the cast is removed, your child may need a special brace or physical therapy exercises to strengthen the muscles around the hip and in the legs.

If DDH is found early, many babies do well with the Pavlik harness, and if needed, casting. Some babies may need one or more surgeries as they grow because the hip can dislocate again. If DDH is left untreated, a child may develop differences in leg length and a duck-like gait. Later in life, he or she may have pain or arthritis in the hip.

  • DDH is a health problem of the hip joint. The hip socket is shallow. This allows the head of the femur to dislocate, slipping in and out of the socket.
  • DDH is present at birth. It may be caused by gene problems and environmental factors.
  • A baby with DDH may have one leg that looks shorter than the other.
  • Newborns are screened for DDH before they leave the hospital.
  • Treatment may include a Pavlik harness, casting, and surgery.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Trisomy 13 and Trisomy 18 in Children

Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects. This includes severe learning problems and health problems that affect nearly every organ in the body.

Most babies born with trisomy 13 or 18 die by age 1. But some babies with these disorders do survive the first year of life. It’s hard to predict how long a child with these disorders might live. There are a few reports of babies with trisomy 13 or 18 surviving to their teens. But this is unusual.

Chromosomes come in sets of 2, or pairs. Most people have 23 pairs of chromosomes in their cells. Trisomy means that a person has 3 of a certain chromosome instead of 2. Trisomy 13 means the child has 3 copies of chromosome number 13. Trisomy 18 means the child has 3 copies of chromosome number 18.

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes. Half are from the father and half are from the mother.

But sometimes an error occurs when the 46 chromosomes are being divided in half. An egg or sperm cell may keep both copies of chromosome number 13 or 18, instead of just 1 copy. If this egg or sperm is fertilized, then the baby will have 3 copies of chromosome number 13 or 18. If the baby has 3 copies of chromosome number 13, this is called trisomy 13. If the baby has 3 copies of chromosome number 18, this is called trisomy 18. The extra copy of chromosome number 13 or number 18 is present in every cell in the body.

Sometimes the extra number 13 or number 18 chromosome, or part of it, is attached to another chromosome in the egg or sperm. This is called a translocation. This is the only form of trisomy 13 or 18 that may be inherited from a parent. Some parents may have balanced translocation. This means the number 13 or 18 chromosome is attached to another chromosome. But it does not affect their own health.

A rare form is called mosaic trisomy 13 or 18. This is when an error in cell division happens after the egg is fertilized. People with this syndrome have both normal cells and some cells with an extra chromosome number 13 or 18.

Symptoms can occur a bit differently in each child.

A baby with trisomy 13 may have symptoms such as:

  • Low birthweight
  • Small head with sloping forehead
  • Structural problems of the brain, such as the front of the brain not divided normally (holoprosencephaly)
  • Eyes that are close together
  • Nose or nostrils not well developed
  • Cleft lip and cleft palate
  • Low-set ears that have unusual shape
  • Scalp problems that look like sores (cutis aplasia)
  • Purplish-red birthmarks from tiny blood vessels close to the skin (hemangiomas)
  • Extra fingers and toes (polydactyly)
  • Feet with prominent heels
  • Heart defects
  • Kidney problems
  • Part of the belly (abdominal) organs bulging through an opening near the umbilical cord (omphalocele)
  • In boy babies, testes not descended into the scrotum
  • In girl babies, a uterus that forms in 2 branches (bicornuate uterus)

A baby with trisomy 18 may have symptoms such as:

  • Looking thin and frail
  • Failure to thrive
  • Problems feeding
  • Small size, even when delivered full term
  • Small head
  • Low-set ears
  • Small mouth and jaw
  • Shortened breastbone (sternum)
  • Weak cry
  • Problems with hearing
  • Heart defects
  • Can’t extend fingers fully
  • Arms and legs in a bent position (contracture)
  • Feet with a curved shape, known as rocker bottom
  • Spinal cord not fully closed (spina bifida)
  • Eye problems
  • Cleft lip and palate
  • Slow growth
  • Seizures
  • High blood pressure
  • Kidney problems
  • Curvature of the spine (scoliosis)
  • In boy babies, testes not descended into the scrotum

Most babies with trisomy 18 have problems that affect all parts of the body.  Heart problems, feeding problems, and infections are what most often lead to death.

Chromosome problems such as trisomy 13 or 18 can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This can also be done by looking at the amount of the baby’s DNA in the mother’s blood. This is a noninvasive prenatal screening. These tests are very accurate.

Fetal ultrasound during pregnancy can also show the possibility of trisomy 13 or 18. But ultrasound is not 100% accurate. Problems caused by trisomy 13 or 18 may not be seen with ultrasound.

After birth, your baby may be diagnosed with a physical exam. The healthcare provider may also take a blood sample. This is checked in a lab to find the extra chromosome.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is. Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.

Severe, often life-threatening health problems occur in both trisomy 13 and trisomy 18. Treatment for complications varies depending on the body organ affected and the severity of the problem. Your child’s healthcare provider will discuss treatment options with you.

Researchers don’t know how to prevent the chromosome errors that cause these disorders. There is no reason to believe a parent can do anything to cause or prevent trisomy 13 or 18 in their child.                                                                  

If you are younger than 35, the risk of having a baby with trisomy 13 or 18 goes up slightly each year as you get older. After a baby is born with suspected trisomy 13 or 18, a healthcare provider will take a blood sample to do a chromosome analysis (karyotype). This confirms trisomy 13 or 18. This test also shows the chromosome problem that caused the disorder. This information is important in assessing the risk in future pregnancies. Translocation and mosaic trisomy 13 and 18 have different risks for future pregnancies.

Your healthcare provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests in detail. He or she can talk about risks for future pregnancies. The counselor can tell you what tests are available to diagnose chromosome problems before a baby is born.

A diagnosis of trisomy 13 or trisomy 18 can be overwhelming and upsetting. You will face difficult decisions about how to care for your baby. Many babies born with trisomy 13 or trisomy 18 may not live beyond the first few days or weeks of life. So you may have to cope with your baby never coming home from the hospital.

Many resources are available to help you. These include early intervention services, hospice care, social workers, a hospital chaplain or clergy, and genetic counselors. Support groups that include other families dealing with a similar problem can also help you cope with questions and emotions. 

If you are caring for your child at home, call your child’s healthcare provider if your child has:

  • Symptoms that don’t get better, get worse, or worry you
  • New symptoms
  • Trisomy 13 and trisomy 18 are genetic disorders. They include a combination of birth defects, such as severe learning problems and health problems that affect nearly every organ in the body.
  • Most babies born with trisomy 13 or 18 die by the time they are 1 year old. But some babies with these disorders do survive the first year of life.
  • There is no reason to believe a parent can do anything to cause or prevent trisomy 18 or 13 in their child. Researchers don’t know how to prevent the chromosome errors that cause these disorders.
  • A diagnosis of trisomy 13 or 18 can be overwhelming and upsetting. You will face difficult decisions about how to care for your baby.
  • Many resources are available to help you. These include early intervention services, hospice care, social workers, a hospital chaplain or clergy, genetic counselors, and support groups. 

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Turner Syndrome (Monosomy X) in Children

Turner syndrome (monosomy X or TS) is a genetic disorder that occurs in girls. It causes a variety of traits and problems. Girls with TS are shorter than most girls. They don’t go through normal puberty as they grow into adulthood. They may also have other health problems such as heart or kidney problems. The seriousness of these problems varies from girl to girl. Many of the health problems affecting girls with Turner syndrome can be managed or fixed with treatment. Turner syndrome occurs in about 1 in 2,000 to 2,500 girl babies.

When a baby is conceived, a normal egg cell and normal sperm cell start with 46 chromosomes. The egg and sperm cells then divide in half. The egg and sperm cells then have 23 chromosomes each. When a sperm with 23 chromosomes fertilizes an egg with 23 chromosomes, the baby will then have a complete set of 46 chromosomes, or 23 pairs. Half are from the father and half are from the mother. The 23rd pair is called the sex chromosomes. In females, the 23rd pair is two X chromosomes. In males, the 23rd pair is one X and one Y chromosome.

There are 2 types of Turner syndrome: monosomy X TS and mosaic TS. About half of all girls with Turner syndrome have a monosomy disorder. Monosomy means that a person is missing one chromosome in the pair. Instead of 46 chromosomes, the person has only 45 chromosomes. This means a girl with TS has only one X chromosome in her 23rd pair. Sometimes an error occurs when an egg or sperm cell is forming, causing it to have a missing sex chromosome. But it is usually an error that happened by chance when the father’s sperm cell was forming. The missing sex chromosome error can occur in either the mother’s egg cell or the father’s sperm cell.

Girls with mosaic TS have chromosome changes in only some cells, but not all cells. A small number of cases have the normal number of 46 chromosomes, but with part of the X chromosome missing. When only part of an X chromosome is missing (deletion), a girl with the syndrome will usually have milder signs of TS. The features of TS depend on which part of the X chromosome is missing.

During a pregnancy, the healthcare provider may have seen a structure called a cystic hygroma during a fetal ultrasound. A cystic hygroma is a fluid-filled sac at the base of the neck. It often goes away before birth. But sometimes the sac is there when the baby is born.

About 50% of girls born with TS will have puffy hands and feet at birth. They will also have a wide neck with folds of skin down the sides of the neck (called webbing). Girls with TS often also have:

  • Feeding problems as a baby
  • Short height
  • A low hairline at the back of the neck
  • Small differences in the shape and position of the ears
  • Broad chest with widely spaced nipples
  • More small brown moles (nevi) on the skin than normal
  • Deep-set nails 
  • Small jaw
  • Narrow top of the inside of the mouth
  • Skeletal problems

Chromosome problems such as TS can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. This can also be done by looking at the amount of the baby’s DNA in the mother’s blood. This is a noninvasive prenatal screening. These tests are very accurate.

Fetal ultrasound during pregnancy can also show the possibility of Turner syndrome. But ultrasound is not 100% accurate. Problems due to the disorder may not be seen with ultrasound.

If a healthcare provider thinks that your newborn baby girl may have TS, he or she will usually take a small sample of your baby’s blood. The lab will look at the sample to see if 1 X sex chromosome is missing.

The healthcare provider may refer you to a genetic counselor. This expert can explain the results of chromosome tests, as well as tests available to diagnose chromosome problems before a baby is born.

Sometimes a girl with TS doesn’t have any problems as a baby or child. It’s only when she doesn’t go through puberty or is shorter than her peers that her healthcare provider may suspect TS.

There is no cure for TS. But many of the more serious problems can be treated. For example, growth hormone and androgen therapy can increase the final adult height of a girl. She can also take hormone therapy to develop secondary sex traits such as breasts, pubic hair, and underarm hair. Surgery can fix coarctation of the aorta, if needed. And medicines are available to treat high blood pressure, diabetes, and thyroid problems. A woman with TS can have children by using donor eggs. 

Being shorter than normal is the most common feature of TS as a girl grows. The average adult height of a woman with TS is 4 feet, 8 inches. A girl may also have cubitus valgus. This means that when she stands with her arms at her side, her elbows will be slightly bent. She can’t keep her arms perfectly straight at her side.

Most women with TS are born with poorly formed or missing ovaries. Ovaries make estrogen, and without it, a girl with TS will not develop sexually. The usual signs of puberty don’t happen unless the girl is given hormone therapy. This includes breast development, menstrual periods, and growth of pubic hair and hair elsewhere on the body. Most girls with the syndrome won’t be able to have children (are infertile) as adults.                                              

Other common problems with TS affect the heart, kidney, and thyroid. About 1 in 10 girls with TS is born with coarctation of the aorta. This means the main artery that leaves the heart is narrowed. This problem sometimes needs to be fixed with surgery.

Girls with TS generally have normal intelligence. They tend to score higher on their verbal IQ than their nonverbal IQ. But they may have problems in the areas of spatial perception. They may also have certain learning disabilities.

Other possible problems include:

  • Middle ear infections
  • Diabetes
  • Dry skin
  • High blood pressure

Researchers don’t know how to prevent the chromosome error that causes this disorder. In general, a woman who has a child with Turner syndrome is not at increased risk of having another baby with the condition. TS is usually not inherited in families but happens randomly.

If your baby girl is born with TS, there are things you can do to take care of yourself and your baby.

  • Keep all appointments with your baby’s healthcare provider.
  • Talk with your healthcare provider about other providers who will be involved in your child’s care. Your child may receive care from a multidisciplinary team that may include experts such as counselors, social workers, genetic counselors, physical therapists, and speech therapists.
  • Call your healthcare provider if you are concerned about your baby’s symptoms.
  • Think about having genetic testing and counseling to understand your risk.
  • Tell others about your baby’s condition. Work with your child’s healthcare provider to create a treatment plan.
  • Reach out for support from local community services. Being in touch with other parents who have a daughter with TS can also be helpful.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms
  • Turner syndrome (TS) is a genetic disorder that occurs in girls.
  • Girls with TS generally have normal intelligence. But they are shorter than most girls. They don’t go through normal puberty as they grow into adulthood. And they may also have heart, thyroid, or kidney problems.
  • There is no cure for TS. But many of the more serious problems can be treated with hormone therapy, surgery, and medicines.
  • A woman with TS can have children by using donor eggs. 
  • Chromosome problems such as Turner syndrome can often be diagnosed before birth. This is done by looking at cells in the amniotic fluid or from the placenta. These tests are very accurate.
  • Researchers don’t know how to prevent the chromosome error that causes TS. It usually happens by chance during conception. It usually does not run in families.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Spina Bifida in Children

Spina bifida is a condition present at birth (birth defect) where there are problems with the spine, spinal cord, and the surrounding nerves. It can cause part of the spinal cord and areas around it to form outside of the body. This problem can happen anywhere along the spine. Spina bifida is a type of neural tube defect. Neural tube defects affect 7 out of 10,000 live births in the U.S.

The types of spina bifida are:

  • Spina bifida occulta. This is a mild form of spina bifida. The spinal cord and surrounding tissues stay inside the baby. But the lower spine doesn’t form as it should. The child may have a hairy patch, dimple, or birthmark over the area of the defect. Or the problem may not have any visible marks.
  • This is a moderate form of spina bifida. The fluid-filled sac that surrounds the spinal cord forms outside of the body in the spine area. The sac does not contain the spinal cord or nerves.
  • This is a severe form of spina bifida. Part of the spinal cord and nerves form outside the body. They are contained in a fluid-filled sac that bulges from the baby’s back. A baby with this problem usually has weakness and loss of feeling below the defect. The baby may have problems with bowel and bladder function. Most will also have a condition that causes the fluid inside the head to build up. This is called hydrocephalus. The extra fluid puts pressure on the inside of the head. The skull bones expand to a size that’s larger than normal.

During pregnancy, the brain and spine begin as a flat plate of cells. This plate rolls into a tube, called the neural tube. The tube is completely formed 28 to 32 days after conception. If all or part of the neural tube fails to close, this leaves an opening. The opening is called an open neural tube defect. The opening in the tube may be left exposed or covered with bone or skin. The neural tube in a child with spina bifida doesn’t close at some point along the spine. Spina bifida is the most common type of open neural tube defect.

Neural tube defects can be caused by genes passed on from both parents (inherited). They also can be caused by environmental factors like obesity or uncontrolled diabetes in the mother, and by some prescription medicines. In most cases, a child with a neural tube defect has no family history of this problem.

Once a child with a neural tube defect has been born in the family, the chance that this problem will happen in another child rises to 1 in 25. The type of neural tube defect can differ the second time. For example, one baby could be born with anencephaly. But a second baby could have spina bifida instead.

Other risk factors for neural tube defects include:

  • Mother’s age. Spina bifida is more common in teen mothers.
  • History of miscarriage. A woman who has had miscarriages in the past has a higher risk of having a baby with neural tube defects.
  • Birth order. First-born babies are at higher risk.
  • Socioeconomic status. Children born into lower socioeconomic families are at higher risk for spina bifida. Researchers think that poor diet may be a factor.

Symptoms can occur a bit differently in each child. They can include:

  • Area on the back that looks abnormal, such as a small hairy patch, dimple, or birthmark, or a pouch-like bulge (sac)
  • No feeling below the place on the spine where the sac is
  • Not able to move his or her legs (paralysis)
  • Constipation or incontinence

The baby may also have other problems such as:

  • Increased fluid and pressure in the head area (hydrocephalus)
  • Heart problems
  • Bone problems
  • Lower level of intelligence

The symptoms of spina bifida can be like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

You may need tests while you are pregnant to check for spina bifida in your growing baby. The tests include:

  • Blood test. A test called a quad screen measures 4 substances in the mother’s blood to see if there is an increased risk for neural tube defects and other problems. This test is done between 16 and 18 weeks of pregnancy. It measures levels of alpha-fetoprotein (AFP) and other things in the blood. AFP is a protein made by the baby growing in the womb. If a baby has an open neural tube defect, the AFP level in the mother’s blood will be higher than normal. The test isn’t conclusive, but it can show if your baby is at risk for an open neural tube defect. The test can show if you need more testing. The American College of Obstetrics and Gynecology advises that this blood test be offered to all pregnant women.
  • Prenatal ultrasound. This imaging test uses high-frequency sound waves and a computer to make images of blood vessels, tissues, and organs. Ultrasounds let healthcare providers see the internal organs as they function. They also show blood flow through blood vessels. Prenatal ultrasound may be able to find an open neural tube defect. Your provider may also use ultrasound to look at other organs and body systems of the baby.
  • Amniocentesis. This test looks at a small sample of the fluid that surrounds the baby in the womb. The healthcare provider uses a long, thin needle to reach the amniotic sac. He or she takes the sample of fluid and checks it for AFP. The test may not be able to find small or closed defects.

After birth, the healthcare provider will give your child a physical exam.

You may need to have a cesarean section to deliver your baby. This is often done to lower the risk for damage to the spinal cord that may occur during a vaginal delivery. Babies born with a meningocele or a myelomeningocele usually need to stay in the neonatal intensive care unit (NICU). The main goals of managing spina bifida are to prevent infection and to protect the spinal cord and nerves that are exposed outside of the body.

How serious the spina bifida is, is often not fully known right after birth. It can become clearer as your child grows and develops.

Your child may need surgery to close the defect. Surgery can help manage the problems. But it can’t restore muscle function or feeling to normal. Your child may need surgery to:

  • Fix and close the defect
  • Treat hydrocephalus
  • Treat bone (orthopedic) problems. Bone problems may include curvature in the back, hip dislocation, ankle and foot deformities, and contracted muscles. Babies and children with spina bifida are also at risk of breaking bones because their bones may be weaker than normal.
  • Fix bowel and bladder problems. Surgery can help with going to the bathroom,  incontinence, and constipation, or when the bladder does not empty fully.

After surgery, you will get instructions on caring for your baby at home. You may be told how to:

  • Look at your baby’s skin, especially over bony areas such as the elbows, buttocks, back of the thighs, heel, and foot areas. You may need to change your baby’s position often to prevent pressure sores.
  • Help your baby with bowel and bladder function
  • Feed your baby and check your baby’s nutrition
  • Help your baby move and encourage him or her to be active
  • Help with your baby’s growth and development

Not all babies need surgery to repair spina bifida. Instead a baby may need:

  • Rehabilitation
  • Positioning aids that help the child sit, lie, or stand
  • Braces and splints that help prevent deformity and give support or protection to areas of the body
  • Medicines

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects of all treatments.

Complications of spina bifida vary depending on the body system affected and how serious the problem is. Your child may have problems with muscle function, bones, and bowel and bladder emptying. Your child’s healthcare provider will discuss treatment options with you.

Babies with spina bifida are at high risk of developing a latex allergy. This is because they are exposed to latex during the many medical and surgical procedures they need. Your baby’s healthcare team will do their best to limit how much latex your baby is exposed to. Your baby’s healthcare providers can help you find out which products contain latex and also find products that are latex-free.

The neural tube closes 28 to 32 days after a baby is conceived. This is before many women are aware that they are pregnant. Normal development of the brain and spinal cord may be affected during these first 3 to 8 weeks of pregnancy by:

  • Not enough vitamins such as folic acid and other nutrients
  • Infection
  • Using prescription medicine or alcohol
  • Being around hazardous chemicals and other substances
  • Genetic problems

Researchers have found that a woman who gets enough folic acid (vitamin B-9) can help lower the risk for neural tube defects. Folic acid is found in some leafy green vegetables, nuts, beans, citrus fruits, and fortified breakfast cereals. It is recommended that all women of childbearing age take a multivitamin that has folic acid. Folic acid is in prenatal vitamins. Getting this vitamin early in pregnancy is most important.

If you have had a child with a neural tube defect, your healthcare provider may recommend taking a larger amount of folic acid before your next pregnancy. Your provider may tell you to take this extra amount for 1 to 2 months before conception and then through the first trimester.

Your healthcare provider may also advise genetic counseling. You can discuss with a counselor the risk for a neural tube defect in a future pregnancy. Also talk with your provider about getting a prescription for folic acid to lower the risk for another open neural tube defect.

Spina bifida is a lifelong condition that has no cure. Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her abilities. You can help your child strengthen his or her self-esteem and be as independent as possible. Physical and occupational rehabilitation, plus extra support in school, can help a child function as well as possible.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms
  • Spina bifida is a type of birth defect called a neural tube defect. It can cause part of the spinal cord and areas around it to form outside of the body.
  • Symptoms can include an area on the back that looks abnormal. This may be a small hairy patch, dimple, or birthmark, or a pouch-like bulge (sac).
  • You may need tests while you are pregnant to check for spina bifida in your growing baby.
  • If your child is born with spina bifida, your healthcare provider may also advise genetic counseling. You can discuss with a counselor the risk for a neural tube defect in a future pregnancy.
  • Your child may need surgery to close the defect. Surgery can help manage the problems. But it can’t restore muscle function or feeling to normal.
  • Spina bifida is a lifelong condition that has no cure. Your child’s healthcare providers will work to prevent deformities or keep them to a minimum. They will also work to help your child make the most of his or her abilities.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.

Hypospadias in Children

Hypospadias is a problem where the opening of the urethra is not at the tip of the penis. The urethra is the tube that carries urine from the bladder to the outside of the body. With hypospadias, the end of the tube is lower down on the underside of the penis. Or it may be in the scrotum. The foreskin of the penis also forms abnormally. Hypospadias can prevent normal urine flow. Later in life it can cause problems with semen flow, resulting in infertility.Hypospadias is a problem that some boys are born with (congenital). It happens during growth in the mother’s uterus. As the baby grows in the uterus, the tissue on the underside of the penis that forms part of the urethra doesn’t fully close. The foreskin doesn’t fully develop. This leaves extra foreskin on the top side of the penis and no foreskin on the underside of the penis.

A baby is more at risk for hypospadias if he or she:           

  • Has an older mother
  • Has a father with other conditions of the urinary tract or genitals
  • Is born early (preterm birth)
  • Has a low birth weight
  • Is a twin
  • Has a mother who has diabetes during pregnancy (gestational diabetes)
  • Was exposed before birth to secondhand cigarette smoke and pesticides

Symptoms can occur a bit differently in each child. They can include:

  • Abnormal look of foreskin and penis
  • Abnormal direction of urine stream
  • End of penis curves downward

The symptoms of hypospadias can seem like other health conditions. Make sure your child sees his or her healthcare provider for a diagnosis.

The healthcare provider will ask about your child’s symptoms and health history. He or she may also ask about your family’s health history. The provider will give your child a physical exam. This will include looking at your baby’s penis and foreskin.

Treatment will depend on your child’s symptoms, age, and general health. It will also depend on how severe the condition is.

Hypospadias can be fixed with surgery. Surgery is often done when a baby is 6 to 24 months old. This is when penile growth is minimal. Your baby should not be circumcised at birth. This is because the foreskin may be needed to repair the penis. In some cases, more than one surgery is needed to complete the repair.

Talk with your child’s healthcare providers about the risks, benefits, and possible side effects surgery.

If a hypospadias is not repaired, your child may have problems such as:

  • Abnormal urine stream. The urine stream may point in the direction of the opening, such as downward. Or it may spray in multiple directions.
  • Curving penis. As your child grows, his penis may curve. This can cause sexual dysfunction later in life.
  • Infertility. If the urethral opening is closer to the scrotum or perineum, your child may have problems with fertility later in life.

Call the healthcare provider if your child has:

  • Symptoms that don’t get better, or get worse
  • New symptoms
  • Hypospadias is a problem where the opening of the urethra is not at the tip of the penis. The end of the urethra is lower down on the underside of the penis. Or it may be in the scrotum. The foreskin of the penis also forms abnormally.
  • It is a problem that some boys are born with. It happens during a baby’s growth in the uterus.
  • It can be fixed with surgery. Surgery is often done when a baby is 6 to 24 months old.
  • Your baby should not be circumcised at birth. This is because the foreskin may be needed to repair the penis. In some cases, more than one surgery is needed to complete the repair.
  • If the condition is not repaired, your child may have problems such as abnormal urine flow, a curving penis, and infertility.

Tips to help you get the most from a visit to your child’s healthcare provider:

  • Know the reason for the visit and what you want to happen.
  • Before your visit, write down questions you want answered.
  • At the visit, write down the name of a new diagnosis, and any new medicines, treatments, or tests. Also write down any new instructions your provider gives you for your child.
  • Know why a new medicine or treatment is prescribed and how it will help your child. Also know what the side effects are.
  • Ask if your child’s condition can be treated in other ways.
  • Know why a test or procedure is recommended and what the results could mean.
  • Know what to expect if your child does not take the medicine or have the test or procedure.
  • If your child has a follow-up appointment, write down the date, time, and purpose for that visit.
  • Know how you can contact your child’s provider after office hours. This is important if your child becomes ill and you have questions or need advice.