Common Abnormalities in Development
Atresia, stenosis, or web of the bowel
What is an intestinal atresia, intestinal stenosis or web?
In all of these, an area of the bowel did not form normally.
- In an atresia part of the bowel is thin like a thread and there is no hole in the middle, so that the bowel is blocked or "obstructed". An atresia can be at any part of the large or small bowel but atresias of the upper part of the small bowel are the most common. The amount of bowel that has atresia varies from a very small section to a large part of the bowel. There may be more than one area that has atresia.
- In stenosis the lumen or hole is present but smaller than normal. It may be a small or large portion or in more than one area.
- In a web the hole in one section of the bowel is not complete. It usually occurs in the area where the stomach meets the upper small bowel. The first part of the small bowel is called the duodenum; therefore, the web is a duodenal web.
Are there problems in pregnancy?
- If the abnormal area is near the stomach, there may be too much amniotic fluid, called polyhydramnios.
- Too much amniotic fluid may cause premature labor and premature delivery.
- If the abnormal area is lower down there may be no indication there is a problem until after birth when the baby gets sick.
How does one know that a baby has atresia, stenosis or web?
- The baby may have vomiting. Vomiting green material is not normal and is often what alerts one to the problem.
- The baby may have a swollen or full appearing tummy.
- The baby may seem uncomfortable, cry and not want to eat.
- Xrays of the baby's tummy are usually not normal
- Special studies where a dye is put into the bowel may be needed to help find the abnormal part of the bowel.
What is done for these problems?
The baby needs surgery to fix the problem. The area that is not normal will be removed. Sometimes the other two ends can be sewn back together during surgery. Other times, the end of the bowel just above the atresia will be brought to the skin, called an ostomy. Then, the bowel is reattached at a later time.
What other problems can the baby have?
- S/he may be premature.
- S/he may be small for their number of weeks of pregnancy, called intrauterine growth restriction.
- S/he may have other abnormalities. This occurs about 1/5 of the time. Intestinal atresia is sometimes seen with gastroschisis and with Down syndrome.
- S/he may have problems with nutrition and growth. This is most common if the amount of normal bowel is short or if the surgeon had to remove a large amount of bowel.
- Scar tissue that develops after surgery can cause blockage later on.
- The baby can develop necrotizing enterocolitis.
What is gastroschisis?
Gastroschisis is an abnormality in the development of the bowel and wall of the the abdomen. A large amount of the baby's intestine protrudes through a small opening on the abdomen very near the umbilical cord. Sometimes other organs such as stomach, bladder or ovaries also are out of the abdomen. There may be extra fluid in the bowel or stomach because the stomach fluid can not pass down the intestine. The cause of gastroschisis is not known but an area of the abdominal wall does not close normally.
How does one know if a baby has gastroschisis?
Gastroschisis may not be found until after birth, but sometimes it is seen before birth on ultrasound. The ultrasound shows that the contents of the abdomen are outside the abdomen. Often a blood test of the mother, called alpha-feto protein, is abnormal. There may be an extra large amount of amniotic fluid, causing the mother to go into labor early.
What other problems do babies with gastroschisis have?
- They may be premature and have the common problems of premature infants
- They may be smaller than normal for their weeks of gestation, see IUGR
- Part of the intestine may not have an opening inside it, called atresia, or a very narrow opening, called stenosis
- The total amount of intestine may be less than normal.
- The baby might aspirate the contents of the amniotic fluid into its lungs at birth, called aspiration pneumonia.
- This causes breathing problems.
- Occasionally the bowel twists on itself and kinks off its own blood supply while the baby is still in the womb. When this happens the bowel without a blood supply dies and the bowel that is left is very short in length.
Because the intestines are outside the body , after birth the baby is at increased risk for infection, low body temperature (hypothermia), and rapidly losing too much fluid from the body.
- In boy babies, the testes sometimes stay in the abdomen instead of going to the scrotum. This is called undescended testes.
Can gastroschisis be fixed?
Yes, Surgery is usually done quite soon (hours) after birth to prevent infection, low body temperature and too much fluid loss. What will be done in surgery depends on the size of the abdomen and the condition of the bowel.
- The intestines and other organs may be placed back into the abdomen through the hole or through an incision that makes the hole larger. After the intestine is back in the abdomen, the hole is sewn closed.
- If the abdomen is too small for everything to fit back easily, one of three things will be done at surgery:
* The skin is stretched over the intestines but the other layers of the abdomen are left open to be fixed later in infancy.
* A patch, made of a special material, may be sewn to the skin edges to cover the intestine. This will be removed in a second surgery later.
* A "silo" or sack is built out of special material. The edges are attached to the skin and the intestines are placed in it. Over about a week the abdomen stretches and more of the bowel is squeezed from the sack into the abdomen. The baby has a second surgery to remove the sack and close the abdomen.
How soon will my baby be better?
Usually it takes a few weeks for the babies to take feedings normally. During this time they will receive all or part of their nutrition by vein. Babies with silos take longer to feed. Feedings often have to progress slowly to be sure the intestine can handle them. Premature babies and babies with short or injured intestines have longer stays.
Are there long term problems?
These are most common if the intestines were injured before birth by low blood supply, or if the baby is more than 6 weeks premature.
- Scarring leading to blockage of the intestine - can occur anytime later in life.
- Feeding and digestion problems
- If a large amount of the intestine died, it will be difficult for the baby to grow and absorb nutrients. Nutrition by vein and/or special formulas may be needed make the baby grow. Most of the time the intestines heal and adapt, but it can take many months and sometimes years for this to occur.
- In the first few weeks after surgery the baby is at increased risk for an inflamation of the bowel called Necrotizing Enterocolitis.
What is malrotation?
Malrotation is an abnormality where the intestine (gut) is not placed correctly in the abdomen (tummy). A thick band crosses the upper small bowel (gut) causing a blockage of the gut. Also, the gut can twist easily causing it to lose its blood supply.
How does a baby with malrotation act?
- The baby usually gets sick in the first month, often the first few days.
- The baby cries a lot because his/her tummy hurts.
- The baby throws-up frequently; often the vomit is greenish. Vomiting green or yellow-green is not normal spitting up.
- The baby's tummy gets bigger and more firm
- The baby might look sick---pale color, less active, not wanting to eat.
Is malrotation serious?
Yes, it is important that the baby be seen right away. Do not wait until morning or the next day. If the gut is twisted, early action may save some of the gut from serious damage or from dying.
How will the doctors know if my baby has malrotation?
They will take an x-ray and put some dye into your baby's gut to look at it.
How is malrotation treated?
Surgery is needed to fix the problem. In surgery the thick band is cut and the gut is untwisted and placed in a more normal position. If part of the bowel has died, it must be removed.
Do babies with malrotation have other problems?
- About 20-25% have another abnormality of the gut, usually atresia.
- Scarring after surgery can cause an obstruction (blockage) later on in life. This is true with any surgery in the abdomen. Another surgery would be needed to fix this problem.
- If a large amount of bowel had to be removed, the baby 's gut may be short. This may make it difficult for a baby or child to grow and absorb nutrients. Nutrition by vein and/or special formulas may be needed make the baby grow. Most of the time the intestines heal and adapt, but it can take many months and sometimes years for this to occur. Some older children and adults with short guts continue to have problems with loose stools and absorbing food.
What is an omphalocele?
An omphalocele is an abnormality in the development of the bowel and often other contents of the abdomen. Very early in development, during the second month, the bowel normally goes out into the umbilical cord to develop. A little later it goes back into the abdomen. When something goes wrong with this process, the baby has an omphalocele. With an omphalocele part of the abdomen near the base of the umbilical cord is not covered with skin. Some of the normal contents of the abdomen are in the cord or between the abnormal area of the abdomen and the cord. A normal looking umbilical cord comes out of the top of the defect. Omphaloceles vary greatly in size, from a small amount of intestine in the cord to a huge defect containing intestine, liver, spleen, and other sometimes other organs.
How does one know if a baby has an omphalocele?
An omphalocele may not be found until after birth, especially it is small or flat on the tummy. Sometimes they are noted before birth on ultrasound. It shows that the contents of the abdomen are outside the abdomen in the cord. Sometimes a blood test of the mother, called alpha-feto protein, is abnormal.
What other problems do babies with omphalocele have?
- They may be premature and have the common problems of premature infants
- These babies may be smaller or larger than normal for their weeks of gestation, see IUGR
- If the defect is large, the babies may have poor lung development and/or problems breathing.
- The intestines may be slow to handle food.
- Other organs might be abnormal. About 50% of babies with omphalocele have abnormalities in the formation of other organs. Common abnormalities are:
* Defects in the formation of the heart, occurs in 20%
* Beckwith-Wiedeman Syndrome, a condition with a large tongue, high insulin and low blood sugar
* Chromosome problems with many abnormal organs
Can an omphalocele be fixed?
Yes, What will be done depends on the size of the defect and the condition of the baby.
- In surgery, the intestines and other organs may be placed back in the abdomen and the skin closed.
- If the abdomen is too small for everything to fit back easily, a special material is used to make patch or a "silo" (sack). The edges of the patch or the silo are attached to the skin. If a silo is used, the intestines are placed in it. Over about a week the abdomen stretches and more of the bowel is squeezed from the sack into the abdomen. With both the patch and the silo, the skin is closed in a second operation.
- Surgery may be delayed if the baby is very sick and the membrane over the defect is not open or leaking.
How soon will my baby be better?
Usually it takes a few weeks for the babies to take feedings normally. Babies with silos take longer. Feedings often have to progress slowly to be sure the intestine can handle them.
Often the other abnormalities in development are more serious than the omphalocele. Babies with other problems, especially heart problems, stay much longer and have a greater chance of dying in the newborn period than babies with only omphalocele. Premature babies have longer stays.
Are there long term problems?
These are most common if other organs are also abnormal.
Those relating to omphalocele include:
- Scarring leading to blockage of the intestine
- Feeding and digestion problems, especially if the amount of intestine is unusually small.
Hernias and Hydroceles
What is a hernia?
A hernia is a protrusion of a loop of bowel from the abdomen into an area where it normally would not be. In babies the most common hernias are inguinal hernias and umbilical hernias. An inguinal hernia develops in the groin at the level of the skin crease between the leg and the abdomen. In a baby boy the bowel loop protrudes into the scrotum. An umbilical hernia develops after the cord comes off and is an outpouching where the cord used to be. Hernias are usually not present when the baby is born but develop later.
Why did my baby get a hernia?
A hernia develops when there is failure of certain openings to close during development. Normally the sides of these tissues come together and then seal over. If they don't seal, they can reopen and then fluid and loops of bowel can slide into the opening or sac. The closing process usually occurs in utero when the baby's tummy is flat and the intestines are small. Hernias are more common in:
- smaller babies
- boy babies
- babies who have had lung disease
What is done for a hernia?
Umbilical hernias will usually go away during the first year or two of life. They only need to be repaired by surgery if they become very large or if a loop of bowel gets caught or trapped in the hernia (incarcerated). Inguinal hernias usually need to be repaired surgically. The timing of surgery varies. Babies are more likely to have their hernias incarcerate, that is to have the loop of bowel get trapped in the hernia sac. But, babies also have more delicate tissue and sometimes handle anesthesia less well. Therefore, the surgeon must weigh these factors in selecting the best time for repair. However, any time that the bowel appears to be trapped in the hernia, it is an emergency, and the hernia needs to be treated right away.
Why is incarceration of a hernia so bad?
When a loop of bowel gets caught in the hernia, it swells. This cuts off the blood supply to that loop of bowel and the bowel loop can die and/or rupture. Also, in a boy baby, the swollen loop of bowel can cut off the blood supply to the testicle on the hernia side, causing injury or death to the testicle.
How will I know if the hernia is getting into trouble?
There are several signs of incarceration. Not all may be present. These include:
- Cannot reduce the hernia, that is get the loop of bowel to go back into the tummy. This is the earliest and, therefore, the most important sign.
- Inconsolable crying, pain
- Soreness or tenderness over the hernia
- Redness or bluish color in the groin or the scrotum
What is a hydrocele?
A hydrocele is a collection of fluid in the scrotal sac (by the testicle). If it is present at birth, usually it will go away slowly. The baby usually does not need surgery. If, however, the fluid collection increases, does not decrease in size or disappear in the first six months of life, or is accompanied by a hernia, it probably will need to be fixed by surgery.
How does my doctor know that my baby has a heart problem?
There are many ways a baby tells us there may be something wrong with the heart. A baby may exhibit one or all of the following:
- The doctor hears a murmur when listening to the heart. A murmur is the sound the blood makes as it travels through the heart. Some murmurs are normal and others tell us there may be a problem with how the heart was formed.
- The baby is "blue"(cyanotic). This means the blood that is leaving the heart is not carrying a normal amount of oxygen. There can be several reasons for a baby to be blue. One common reason is that there is a problem with how the heart was formed. Another common reason is that there is a problem with the lungs.
- The heart is beating with an abnormal rhythm or speed. The heart has a very distinct pattern and speed by which it beats. If pattern is abnormal it can mean that there is something wrong with the heart. If the heart is beating to fast or to slow it can also mean that there is a problem. The doctor is able to determine the pattern and speed by listening with a stethoscope or by using special equipment.
- The baby is breathing fast. A baby that breathes fast can have a heart problem. Unfortunately, this is not a very specific sign as there are a number of other things that can cause a baby to breathe fast.
What types of tests are used to evaluate the heart?
- One common test is called an electrocardiogram (ECG, or EKG). This allows the doctor to obtain an electrical picture of your baby's heart. Small stickers are attached to the baby's chest. Wires are then clipped to each of these stickers. The wires are connected to a portable machine that takes the electrical picture. This test may not be done on very small premature infants because the chest is small and the skin is fragile.
- Another common test is an echocardiogram (ECHO). This is an ultrasound of the baby's heart. You may have had an ultrasound during pregnancy to look at the baby. An echocardiogram allows the doctor to determine if the heart was formed normally and if it is working well.
- Another test that may be used to find out more about the baby's heart is a cardiac catherization. This test is done once a problem has been found. It allows the doctor to obtain detailed information about the heart. The baby is taken to a special room that is germ free for this test. The baby is given medicine so that s/he sleeps during the procedure. Long flexible tubes (catheters) are placed into the blood vessels in the groin (area between the body and legs). The catheters, once inside the blood vessel, can then be directed to the heart. Inside the heart the catheters allow the doctors to make detailed measurements about how well the heart is working. The catheters also allow the doctors to inject dye and take pictures of the heart. This test does carry some risk. Your physician can discuss this with you.
What does heart failure mean?
It means the baby's heart is unable to keep up with the needs of the body. When the heart is not formed normally it has to work harder and faster. This takes a lot of energy. The heart is unable to keep up with the job that it has been designed to do. Heart failure does not mean that the heart has "failed" or has stopped beating as the term suggests. You will likely hear this term used by the health care team caring for your baby, so it is important to understand this term.
What are some of the drugs that my baby may get?
Digoxin - Digoxin is a drug that helps the heart muscle contract (squeeze) better. It is typically given twice a day. It can be a dangerous drug if given in excess and should be kept out of reach of other children at home. If the baby vomits (spits up) the drug after is given you should contact your physician before repeating the dose.
Lasix - Lasix is a drug that helps to remove extra water from the body. When the heart is not working well the body collects water. Lasix will cause your baby to urinate in larger volumes and more frequently.
Potassium - Potassium is an important substance in the body. Potassium is often given to a baby that is on lasix. Lasix causes potassium to be excreted from the body. Babies are given potassium to help replace these loses.
Aldactone - Aldactone is another medicine that helps remove water from the body. It also prevents potassium from being lost. This drug is frequently used with lasix.
Captopril - Captopril is a drug that lowers blood pressure. This helps the heart to work better. Captopril is often given three times a day. Captopril keeps the body from losing potassium and most of the time should not be used with potassium.
Prostaglandin - Prostaglandin is a drug that is given directly into the vein. It keeps the ductus arteriosus (the blood vessel between the pulmonary artery and the aorta) open. This is very important to do in some heart problems. This medicine can cause fever. It can also cause a baby to stop breathing. Many babies on this medicine need to have help with their breathing.
Dopamine - Dopamine is a drug that is given directly into the vein. It helps the heart to contract (squeeze) better and keeps the blood pressure higher.
Atrial Septal Defect (ASD)
I have been told my baby has an atrial septal defect. What does this mean?
An atrial septal defect (ASD) means that there is a hole between the upper two chambers of the heart (the right and left atrium). When the baby is inside the mother there MUST be a hole (known as the foramen ovale) between the upper two chambers for the baby to grow and develop normally. This hole usually closes shortly after the baby is born. If this hole does not close and remains large it is called an atrial septal defect.
It is very common for premature infants to have delayed closure of the normal hole. You may hear your doctor use the term patent foramen ovale (PFO) to describe this area. In most cases, this hole does not cause any problem. The hole is usually found by an echocardiogram (ultrasound of the heart).
What is the treatment for an atrial septal defect?
It depends on the size and location of the hole. Atrial septal defects usually do not cause any problems during the first few years of life and may close on their own. If they are large, usually they are closed before child enters school. This often is done with open heart surgery, however, new ways of closing these holes without surgery are being developed.
Hypoplastic Left Heart
I have been told my baby has hypoplastic left heart syndrome. What does this mean?
This is a very serious heart condition. The left side of the heart pumps blood to the brain and body and is very important. In this disease the left side of the heart has failed to develop normally. These babies have only one pumping chamber (the right ventricle) that must perform the work of two. These babies can be very sick and will not live long without surgery.
What treatment choices are available for babies with hypoplastic left heart syndrome?
There are three choices:
- The first is to perform surgery to allow the heart to function with only one pumping chamber. This is not easy to do and requires three operations over the first two years of life. You should ask your cardiologist and heart surgeon for additional details and what the experience with this procedure at your hospital.
- The second is for the baby to have a heart transplant. Much has been learned about infant heart transplantation over the last several years and this can be a very successful procedure. The outcome will depend on how long the infant has to wait for an organ (heart) to become available. Unfortunately, infant hearts are in great demand and waits can be long. Once again you should talk with your cardiologist and cardiac surgeon regarding their experience with infant heart transplantation.
- The third option is for the baby to receive only supportive care. Most babies will die, usually within the first month of life without treatment. At one time this was chosen by many families. Today, with better surgery and advances in heart transplants, this is chosen less often. Again, you should discuss this with your cardiologist.
Patent Ductus Arteriosus
What if the ductus arteriosus is open at the time my baby goes home?
If the ductus arteriosus has not closed by the time your baby goes home, it will need to be followed by the baby's doctor. Frequently the PDA will close on its own within several months after birth. Your child's doctor may refer you to a pediatric cardiologist (a doctor who cares for children with heart problems).
What happens if the PDA does not close?
If your baby is not growing well, or there is evidence that the PDA is making your baby sick, the PDA will probably need to be closed. However, if the baby is growing well and thriving, then nothing is done until approximately one year of age.
How is the PDA closed?
There are two common ways that a PDA is closed:
- Surgical closure. A small 1-2 inch incision is made in the area underneath the baby's armpit. The surgeon is able to see the PDA through the incision and close it with a metal clip or suture material.
- Coil occlusion. One or more small coils (small curly pieces of metal) are placed into the PDA by a cardiologist during a procedure known as a cardiac catheterization. The catheterization is done in a room very much like an operating room. Long flexible tubes (known as catheters) enter the body through blood vessels in the groin. The catheters are then moved by the cardiologist to the area of the PDA where the coils are placed.
Your child's doctor and you will choose the method that is best for your baby. The decision is made based on the size of your baby and any other associated medical problems.
What are the benefits of surgical closure?
The surgery is very quick and easy. There is little blood loss and hospital stay is short. When a PDA is closed in this manner there is a very high likelihood that it will stay closed for life.
What are the disadvantages of surgical closure?
There is the risk of anesthesia (the medicine used to make you sleep) while the operation is being done. In addition, your baby will have a scar, though usually small.
What are the benefits of coil occlusion?
There is no scar from the procedure. The baby usually leaves the hospital the next day and the recovery time is very quick. The procedure is done while the baby is in a light sleep, but general anesthesia is not usually used.
What are the disadvantages of coil occlusion?
In a small number of cases the PDA will not be completely closed. A small leak may remain. In addition, there is radiation exposure (though small) during the procedure. It is rare, but there is a chance that during the procedure the coils would not stay in the PDA, but become lodged somewhere else in the body. If this happens the baby may require additional surgery to remove the coils.
Transposition of the Aorta
I have been told my child has transposition of the great arteries. What does this mean?
In the normal heart the left ventricle (left pumping chamber) is connected to the aorta (blood vessel to the body) and the right ventricle (right pumping chamber) is connected to the pulmonary artery (blood vessel to the lungs). In a baby that has transposition of the great arteries (TGA) this relationship is altered. In transposition of the great arteries the left ventricle (left pumping chamber) is connected to the pulmonary artery (blood vessel to the lungs) and the right ventricle (right pumping chamber) is connected to the aorta (blood vessel to the body).
What tests are needed to diagnose this problem?
In many cases the baby will be noted to be blue (cyanotic) after it is born. The cardiologist will do an echocardiogram (ultrasound of the heart) and the problem can usually be easily seen.
How is transpostion of the great arteries treated?
There is only one way that this problem can be treated and that is by surgery. The cardiologist will recommend a surgeon who is an expert in repairing baby hearts (pediatric cardiovascular surgeon). During the surgery the aorta (blood vessel to the body) will be switched with the pulmonary artery (blood vessel to the lungs) restoring them to their original positions. This operation is known as the arterial switch procedure.
What will happen to my baby before the surgery?
Your baby will likely be started on a medicine called prostaglandin. Prostaglandin is a medicine that helps to keep open a blood vessel known as the ductus arteriosus. The ductus arteriosus connects the pulmonary artery to the aorta. It allows the red and blue blood to mix. It is very important for this blood vessel to stay open. Prostaglandin has several known side effects. One of the most important is that it can cause the baby to stop breathing. The doctor may need to place the baby on a machine to help with breathing.
Your baby may need a cardiac catheterization. This is preformed by a cardiologist. During this procedure your baby will be taken to a room free of germs. Long flexible tubes (catheters) are placed in the blood vessels in the groin (area between the trunk and legs). These catheters are then directed to the heart. Important measurements can be made about how well the heart is working. Many babies with transposititon of the great arteries will need to have a large hole created between the upper two chambers of the heart (the right and left atrium). This hole will allow the blue and red blood to mix better. This hole is made using a balloon catheter (a catheter with an inflatable balloon on the end). This proceedure is referred to a balloon atrial septostomy.
What is the long term outcome for babies with transpostition of the great arteries?
If your baby does well during the operation and recovers from surgery without any problems s/he should be able to lead a normal life. The baby will always need to see a cardiologist to insure that no futher problems develop.
Ventricular Septal Defect (VSD)
What is a ventricular septal defect?
A ventricular septal defect is a hole between the bottom two pumping chambers (the right and left ventricle) of the heart. You may hear your health care provider refer to this hole using the term VSD.
Is this a serious problem?
Ventricular septal defects can be a serious problem. It depends on the location and the size of the hole. Small holes may close on their own. Surgery may be necessary to close larger holes.
How is this problem diagnosed?
A ventricular septal defect often causes a murmur that is heard when the doctor listens to the heart. A murmur is a sound made by the blood as it passes through the heart. When the doctor hears this sound, s/he may ask a cardiologist (heart doctor) to evaluate your baby. The cardiologist may order tests to help determine the cause of this sound.
How is a ventricular septal defect treated?
The treatment is determined by the size and location of the hole. Small holes often close on their own in the first two years of life. Large holes will require close follow-up by a pediatric heart specialist (cardiologist). The cardiologist may need to put your baby on heart medicine to allow your baby's heart to work better. The cardiologist may also recommend that your baby have the hole closed by surgery.
If my baby needs to have surgery what does this involve?
Ventricular septal defects are closed by a surgeon who specializes in operating on the hearts of children (pediatric thoracic cardiovascular surgeon). The chest is opened by cutting through the breast bone. The heart needs to be opened for the hole to be repaired. In order to do this, the child needs to be placed on cardiopulmonary bypass (a complex procedure where the movement of blood through the body is supported by a mechanical pump). Once the heart is opened the hole is patched using a thick fabric. The heart is then returned to action and the mechanical pump is removed. The chest is closed and the baby is taken back to the intensive care unit. This surgery usually takes several hours.
I have been told my baby requires subacute bacterial endocarditis (SBE) prophylaxis. What does this mean?
There is an increased risk of developing a heart infection in people with some types of heart problems. These people are told to take one dose of antibiotic (usually a large dose) before procedures where bacteria can get into the blood stream. One common procedure that allows bacteria to enter the blood stream is dental cleaning by a dental assistant or dentist (not daily brushing of the teeth). These infections are rare but can be serious if they occur.