«GLOSSARY of some NEWBORN CONDITIONS for which the NICU is highly likely to be NECESSARY Please Note: Click on the “go” buttons to navigate ...»
GLOSSARY of some NEWBORN CONDITIONS
for which the NICU is highly likely to be
Please Note: Click on the “go” buttons to navigate directly to
Table of Contents:
--Down Syndrome (Trisomy 21) go
--Duodenal Atresia go
--Congenital Diaphragmatic Hernia (CDH) go
--Imperforate Anus go
--Intraventricular Hemorrhage go
--Jaundice of the Newborn go
--Meconium Aspiration Syndrome (MAS) go
--Myelomeningocele/Spina Bifida go
--Necrotizing Entercolitis (NEC) go Down Syndrome (Trisomy 21)
Babies born with Down syndrome have an extra copy of chromosome number 21. There
are three ways this can happen:
• Babies can have 3 copies of chromosome 21 in each of their cells. They have a total of 47 chromosomes in each cell instead of the normal 46. This is called a trisomy, the most common chromosome makeup in Down syndrome
• Uncommonly, babies can have 46 chromosomes in some of their cells, but have 47 in others. In other words only some of the cells have the extra copy of chromosome 21. This is called mosaic trisomy. Sometimes just one particular type of cell, such as the skin cells, will have the extra chromosome. In other cases, a percentage of all of the cells will have the extra chromosome
• Also uncommonly, babies can have chromosome 21 or part of chromosome 21 stuck to another chromosome These babies are born with a variety of specific physical features and some degree of developmental delay and mental retardation. They usually have round heads that may be smaller than normal. The back of the head is often flat. They usually have a flat nasal bridge and their eyes are slanted up at the corners. They usually have a small mouth and chin and their tongue may look large. It may stick out of their mouth a little. The lines or creases across the palms of their hands are different. The little finger may curve in towards their other fingers.
Signs and Symptoms: (In addition to the ones listed above)
• These babies tend to be floppy and have poor muscle tone. This is called hypotonia
• Small ears that are often low placed
• Extra skin may be present on the back of the neck
• A blockage in the esophagus. The esophagus is the tube that goes from the mouth to the stomach. This is called esophageal atresia
• A blockage in a part of the intestines. This is called duodenal atresia
• The doctor may hear a heart murmur and there may be heart defects, which can cause very serious problems.
• Retarded growth and development are usually seen.
• Delayed mental and social skills are always present. They may be mild or severe.
• Amniocentesis can be done before the baby is born. Fluid from the water around the baby is removed. The cells in it are tested for abnormal chromosome numbers.
• A doctor can usually tell if Down syndrome is present from a careful physical exam.
• The baby’s blood will be tested to confirm that there is an abnormal number of chromosomes. High-resolution chromosome tests will show whether the baby has a full trisomy, a mosaic or a translocation.
• An ultrasound exam of the heart can find any abnormalities. This is called an echocardiography.
There is no cure for Down syndrome. All treatment is aimed at supporting the parents and babies.
• Physical therapy. Parents can be taught to do exercises and positioning techniques with the baby, to help prevent physical problems.
• Occupational Therapy (OT). An OT will be available to help parents with feedings issues. Some babies need more help with feedings because of poor tone and a larger than normal tongue size.
• Surgery. If there is a heart problem found, surgery may or may not be necessary to correct the problem.
Children with Down syndrome are can be very affectionate, kind and cheerful; however, they are at a higher risk for developmental disabilities. The disabilities will affect behavior and learning. A genetic counselor can provide counseling for families, so that they can understand what to expect as the child grows up. With appropriate care and social stimulation, these children can have the opportunity to reach their full potential.
« Back to TopDuodenal Atresia
The duodenum is the first part of the bowel, after the stomach. Food combines with acid in the stomach and the moves to the duodenum which mixes with bile and other juices that help digest the food. From there, the food mixture moves through the bowel. The next part of the bowel is called the small intestines. In the small intestine, the body removes the nourishment from the food mixture. When a baby has duodenal atresia (i.e underdevelopment with blockage), the duodenum has not formed properly. Instead of being the first part of an open tube, it is not open. There is no hole for the stomach contents to move through. Doctors think, as one possibility, that sometimes when the baby is developing, the blood supply to the duodenum gets interrupted. This interruption causes the duodenum to get narrow and blocked. The result is duodenal atresia. No one knows why this interruption of the blood supply occurs.
Signs and Symptoms:
• During pregnancy the mother may have more than the usual amount of “water” (i.e.
amniotic fluid) around the baby. This condition is called polyhydramnios
• After birth the baby will start vomiting large amount of green fluid, possible even if he/she is not being fed
• The baby may have Down syndrome. About 25% of babies with Down syndrome have duodenal atresia
• X-rays of the bowel (called a KUB and an upper GI)
• Blood tests will be done to see if the salts in the baby’s blood have become abnormal from the vomiting
• Intravenous Therapy (IV). Because these babies are vomiting and cannot eat, they need to get fluid and nourishment through an IV. They will also receive antibiotics through the IV
• Orogastric tube (OG). A nurse will pass a tube through the baby’s mouth into the stomach to drain the green fluid
• Surgery. A baby born with duodenal atresia needs surgery to remove the blocked portion of the duodenum. The baby will go to the operating room. The surgeons will remove the abnormal part and reconnect the intestines.
It will take several days for the baby to recover from the surgery. The baby will be given pain medication to keep for comfort. He/she will be given fluids and nourishment through an IV. When the baby is ready, the doctors will start to feed the baby very slowly. At first, the feeding will be given into a tube that goes from either the nose or the mouth directly into the stomach. It might take several weeks before the baby can take a full feeding from a bottle. Mothers are encouraged to save their breast milk so that it can be fed to the baby.
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Congenital Diaphragmatic Hernia (CDH)
Congenital diaphragmatic hernia is a condition in which an abnormal hole exists in the diaphragm. The diaphragm is a muscle located below the lungs. This is the main muscle used in breathing. It also serves as a barrier between the lungs and the organs of the abdomen, such as the stomach and liver. Sometimes during fetal development, this hole does not close causing CDH. The organs such as the stomach, intestines and liver can move into the space where the heart and lungs are growing, called the thorax. As a result, the lungs do not grow to their normal size. Both the heart and lungs can become severely compressed. The lungs remain small and poorly developed. They are called hypoplastic.
A life-threatening condition called persistent pulmonary hypertension of the newborn (see PPHN) can result. However, not all babies with CDH are this sick, and in fact many do not even need the help of a respirator. But in all cases surgery is best for the babies with CDH
• Ultrasound can often be used to detect hernia even before birth
• Chest x-rays show the abdominal contents in the chest (thorax) and the heart can be shifted to one side
• Blood tests will show low levels of oxygen and high levels of carbon dioxide in the sickest babies with CDH
• As mentioned, not all babies with CDH are so sick as to need a respirator, but will still need surgery to repair the problem
• Ventilator (breathing machine). The baby will be supported on a ventilator to help with breathing when needed
• Nitric oxide therapy. This is a special gas given through the ventilator, and it may be used to improve lung function
• Medicine that helps to support the heart and maintain blood pressure
• In extreme life-threatening cases, the baby may require ECMO support (please the information on ECMO on this web site)
• Surgery. The surgery involves moving the abdominal organs out of the chest and to repair the hole in the diaphragm
It will take several days to weeks for the baby to recover from the effects of surgery. The baby will be on a ventilator. This will help the baby’s breathing until the diaphragm and lungs heal from the surgery. Sometimes the doctors will need to give the baby medicine to keep him/her from moving. This might be needed for the first few days following the surgery. Pain medications will be given to keep the baby comfortable following surgery.
Outcomes are difficult to predict. Many infants require prolonged hospital stays to treat problems after surgery such as infections, PPHN, decreased diaphragm function, and problems with the intestines after they have been pushed back into the abdomen. Also, the baby needs to learn to suck/swallow, meaning to learn to take a bottle like a normal baby. This takes time because the reflexes for feeding need to return after the period of being sick.
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Gastroschisis is a disorder in which the baby is born with a defect in the wall of the abdomen (stomach). The contents of the abdomen (bowel, stomach, and liver) are pushed outside of the abdomen. There is no covering or sac over these contents. The absence of the sac will expose the intestines to the fluids in the womb. This can sometimes cause the contents to become swollen and inflamed. Babies with this problem can also have smaller than normal abdomens
Signs and symptoms:
• Visible bowel on the outside of the baby
• Fluid losses
• Surgery. This condition requires surgery to prevent infection and large fluid loses, performed in the first day after birth. Swelling of the bowel and lack of skin and muscles can make it difficult to put the contents back into the abdomen with one surgery. Surgeons specializing in this type of surgery will put as much bowel as possible back into the abdomen. A silo or pouch may be placed over the rest of the bowel. Every day or so as the bowel swelling lessens, the surgeon will place more of the intestines into the abdomen. A second surgery will need to be done to close the muscles and skin over the abdomen
• Intravenous Infusion (IV). An IV will be needed to give fluids and nourishment until the baby’s intestines are ready to receive milk
• Antibiotics will be given through the IV to prevent infections
• Orogastric tube: a tube which passes from mouth or nose into the stomach. It helps to keep the bowel from filling up with swallowed air causing distention, aspiration and discomfort
• Assisted breathing with the use of a ventilator (breathing machine)
It will take several days/weeks for the baby to recover from the effects of surgery. The baby will be given pain medications to keep him/her comfortable. The baby will not eat by mouth until the intestines are healed, during which time he/she will receive nourishment through an intravenous infusion. When the baby is ready, the doctors will start to feed your baby very slowly through a tube that runs from either mouth or nose directly to the stomach. It will take several weeks before your baby can take a full feeding from a bottle. Mothers are encouraged to save their breast milk so that it can be used to feed her baby
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The brain and spinal cord are surrounded by a fluid called cerebrospinal fluid (CSF).
This fluid is produced in the ventricles (channels in the brain) and circulates around the brain and spinal cord. CSF acts as a shock absorber to cushion the nervous system.
Hydrocephalus (too much fluid on the brain) occurs when the circulation of the CSF is blocked or when the fluid is not absorbed properly. The CSF then backs up in the ventricles, causing them to expand and push on the brain tissues. This pressure causes the fontanel (soft spot on the head) to bulge and the head to get larger. The continued accumulation of fluid and pressure may cause damage to the nerve cells in the brain
Signs and symptoms:
• Soft spot on head is full and/or tense
• Enlarged head or increased measurement of the size of the baby’s head
• High-pitched, shrill cry
• Widened space between the baby’s bones of the head (keep in mind that it’s normal for the flat bones of the baby’s head not to be connected at birth)
The following can be done to check the size of the ventricles or to reduce CSF pressure
• Ultrasound of the brain
• Computed tomography (CT) or magnetic resonance image (MRI) of the brain
• Surgery: placement of a ventriulo-peritoneal shunt (VP shunt)