Diagnosis and Conditions

Anemia is the medical term for a low level of red blood cells (RBCs). These are the “trucks” in the bloodstream that carry essential oxygen to every tissue in the body. Without adequate RBCs, the blood may be too thin, which can cause low bloodpressure, or cannot deliver the amount of oxygen the body needs to function. Babies are born with higher numbers of RBCs than adults. This is to carry through until the baby’s bone marrow starts making his/her own RBCs, which begins at about 35 weeks post-menstrual age (PMA). The life-span of an RBC is about 3 months, and all newborns become anemic (lose RBCs) in the weeks and months after birth. However, the RBCs of extremely premature babies will die before their own bone marrow begins to make new ones, which may cause a severe anemia requiring blood transfusion. Extremely sick babies, babies with bleeding, needing surgery, or with heart conditions, may also require blood transfusion. Blood transfused into babies comes from blood banks and is tested to the level of blood given to cancer patients or those with HIV. Most hospitals divide the units of blood given to neonates, so that several transfusions can be provided from the same blood, which minimizes the risk of infection. Babies do not have transfusion reactions like adults, and all babies are transfused with O negative blood, regardless of their blood types.

Apnea is the medical term meaning no breathing. How often we breathe is controlled by the brainstem. Most babies breathe 30 – 70 times per minute. Preterm and sick babies may forget to breathe, which can cause the heart rate to drop and may be life-threatening. Unless your baby has an underlying brainstem abnormality (very rare), the apnea will disappear before you take your baby home. In fact, your doctor may delay discharge until your baby has remained “apnea free” for a specified number of days. Caffeine (yep!) is the typical treatment for apnea of prematurity.

Preterm infants who continue to need help breathing after one month of age meet the definition for chronic lung disease (CLD). Babies with the most severe cases may receive treatment with steroids (like dexamethasone). Talk with your neonatologist about this beforehand, as there may be some long-term risks associated with it. Occasionally, if your baby continues to need the ventilator, your doctor may recommend a tracheostomy. More often, babies with CLD are sent home with nasal cannula oxygen, the small plastic prongs that fit just inside the nostrils. The good news about CLD is that, regardless of the severity, babies’ lungs continue to grow and develop until about 8 years of age. Thus, good nutrition and overall general good health will allow new, healthy lung tissue to replace the damaged tissue. We now know that the oldest survivors with the most severe lung disease can outgrow it, and live normal active lives.

Congenital diaphragmatic hernia (CDH) is the result of a failure of the diaphragm (the muscle of respiration) to form normally in utero between the 8th and 10th week of gestation. The diaphragm is not only the muscle of respiration but it also separates the chest cavity (lungs and heart) from the abdominal cavity (stomach, intestines, liver, spleen). With this defect in the diaphragm, the abdominal contents can make their way (herniate) into the chest cavity at the critical time when the lungs are developing. The resultant “lung hypoplasia” can cause severe respiratory compromise. Click here to read more.

This is a congenital abnormality that is often identified on prenatal ultrasound, in which the organs that are supposed to be inside the abdomen are actually on the outside! This is usually an isolated abnormality, quite different than omphalocoele (abdominal contents are inside the umbilical cord, see below.) Babies with gastroschisis can be carried to term, and delivered vaginally (no, the vaginal squeeze doesn’t damage the exteriorized organs). It is important that your baby be delivered in a hospital with both neonatology and pediatric surgery services immediately available. Some surgeons prefer that s/he be immediately intubated so as to prevent air filling up the intestines. The organs must be protected from damage and dehydration, so at delivery the neonatologist will immediately placed your baby inside a plastic bag. Surgeons will then decide if they can perform a “primary closure,” where the organs are immediately replaced inside the abdomen where they belong. This is not often possible, as the abdominal cavity has not grown enough to hold everything. More often, the organs are placed in a “silo,” that protects them and allows them to slowly be pushed down into a stretching abdomen.  This occurs over a period of several days. When the surgeon believes there is enough room in the abdomen, your baby will go back to surgery for closure. Because the diaphragm that separates the lungs from the abdomen is flexible, pushing the intestines inside sometimes pushes the diaphragm up and compresses his/her lungs. This then makes it hard for your baby to breathe. Your neonatologist may keep him/her on a breathing machine during this time, to overcome the pressure from the abdomen, and to allow for adequate pain medication and sedation. This should be relatively short-lived, as it’s unlikely that your baby has intrinsic lung disease if s/he was born at term. Then we wait! This can be the most difficult phase – waiting for intestinal function to return. We can put the intestines back where they belong, but we can’t make them work any faster than they want to. During this time, your baby will be receiving all of his/her nutrition into a big vein through a catheter either placed by the surgeon in the OR , or placed in the NICU by specially-trained nurse. TPN (total parenteral nutrition) is lifesaving in the short-term, but can cause long-term liver damage. Once signs of gut function appear, breastmilk is the best and most preferred substance to introduce into intestines. If no breastmilk is available, a specialized type of commercial formula, called an “elemental” formula, will be used. Very slowly, your baby will be fed increasing amounts into his/her stomach and less through his/her vein. Expect this to be a slow process, with lots of stops and starts. It cannot be sped up, but going too fast can cause complications that considerably prolong your baby’s NICU stay. Babies with gastroschisis can completely recover and live normal lives!

Low blood sugar. This is a common reason for unexpected admission to a NICU or special care nursery for big, term babies – especially if the mother was known to have diabetes before or during her pregnancy. If you have diabetes, your pancreas does not make enough insulin and your blood sugar levels are higher than they should be. That high-sugar blood goes across the placenta into your baby. But your baby doesn’t have diabetes, so his/her pancreas reacts normally to the high-sugar blood and produces more insulin than normal to reduce the blood sugar level. Insulin does more than decrease blood sugar – it also is a growth factor that influences developing fetal cells and organs. Your baby is born big – maybe really big – with extra roles of fat under his/her neck, on his/her face, arms, legs, and body. This may have important long-term effects (see “Infant of a diabetic mother”). When your baby is born, s/he separates from the placenta and the supply of high-sugar blood stops. But the baby’s pancreas is still producing high levels of insulin. The result is the same as if you took your insulin and then didn’t eat right away – the blood sugar (glucose) drops. The brain needs glucose to function and severe hypoglycemia can be life-threatening. Any infant with low blood sugar, regardless of the reason, needs to receive sugar to normalize his/her levels.

Your baby has undergone a “routine” head ultrasound and now your doctors are telling you your baby has bleeding into his/her brain. !!!!! … Intraventricular hemorrhage is not uncommon in extremely premature infants – predominately those born < 28 weeks – and may result in long-term neurodevelopmental complications. However, it may not! Everybody’s brain has pools of spinal fluid that help to cushion the brain from impact, and this spinal fluid is produced by the cells that line the first in the series of the pools, called the lateral ventricles. The brain has two lateral ventricles, one on each side of the brain; these drain into two centrally located ventricles – the 3rd and 4th ventricles – and then there’s the spinal column. Cerebrospinal fluid (CSF) acts as a shock absorber for the brain and spine, protecting it from jarring and other movements. The choroid plexus, lining the lateral ventricles, produces CSF, which then circulates freely through all the ventricles and the spinal column. In extremely premature infants, the tiny blood vessels that line the ventricles in the choroid plexus can easily break. When they do, the bleeding into the ventricle can be seen on ultrasound and is called an intraventricular hemorrhage (IVH). IVH is graded based on its appearance on ultrasound – Grades I, II, III, and IV. Grade I is minimal, and resolves without complication.

• Grade II means there is blood visible in the ventricle, but it’s not causing any problem. Grade II bleeds may progress into Grade III bleeds.
• A grade III bleed shows blood in the ventricle, and the ventricle is enlarged, which is potentially dangerous to the baby. When blood enters the ventricle in a Grade Ii bleed, it can obstruct the normal flow of CSF between the ventricles. This leads to ventricular enlargement – a Grade III bleed. Ventricular enlargement is bad for the longterm neurologic development of the baby, because it puts pressure on the developing brain cells. Babies with Grade III bleeds enter a race – will the body destroy the blood clot before the ventricular enlargement gets too bad??? If your baby has a Grade III IVH, daily head circumferences and weekly ultrasounds will help assess the status of ventricular size. If the ventricles continue to increase in size, your pediatric neurosurgeon will recommend some sort of treatment, depending on your baby’s specific situation. The definitive treatment is a ventriculo-peritoneal shunt, which diverts CSF out of the brain and into the abdominal cavity. However, there are other stop-gap measures that may be entertained, including a ventricular reservoir, or a subgaleal shunt. Some centers are also performing 3rd ventricle windows. Talk to your neurosurgeon about the alternatives before agreeing to a V-P shunt.
• A Grade IV bleed means that the blood has migrated out of the ventricle and into the brain tissue itself, causing a loss of brain tissue in that area. Babies with Gr IV IVH often progress to develop periventricular leukmalacia (PVL), a static neurodevelopmental abnormality that most often presents as some variant of cerebral palsy (CP). PVL can occur by two different mechanisms, and each mechanism may have a different potential outcome. PVL that results as an extension of a bad IVH is usually one-sided (“unilateral”) – which has a better long-term outlook than its partner – bilateral PVL.
• Long term evaluation tells us that babies with Grades I & II IVH usually develop normally, or have very mild neurodevelopmental deficits. Population data indicates that babies with Grade III or IV IVH will likely have some degree of neurodevelopmental abnormalities, but the scope and severity of those abnormalities is impossible to predict for any individual baby. EVERY human being thrives when cared for in a loving, supportive, and rich environment. Babies with IVH are no different.

All babies get jaundiced, and there is a lot that we don’t know about why this happens and what benefits may accrue as a result. Jaundice is the result of accumulation of the molecule bilirubin in the blood, which comes from the breakdown of red blood cells and is natural. Lots of your baby’s red blood cells will naturally break down after birth but, if there’s lots of bruising or if you and your baby have different blood types, more than normal may break down. Also, in certain hereditary conditions (such as spherocytosis), this breakdown (aka “hemolysis”) may occur faster and the jaundice may get worse. We know that, just like water and oxygen, a little may be good, but too much is bad and too much bilirubin (the substance responsible for jaundice) can cause long term brain damage that does not go away. Whereas the bilirubin level peaks in term babies around 3-5 days of life, in sick and preterm babies it may be later than that. And while we know that too much bilirubin is toxic to the brain, we don’t know how much is too much. For babies born at 35 wks EGA and later, the AAP has a clinical guideline that recommends monitoring and treatment. But the guideline doesn’t apply to preterm babies, who may be more vulnerable due to their immaturity. All jaundice is initially treated with phototherapy -- lights with a special wavelength placed on your baby that help the baby excrete the bilirubin. If phototherapy doesn’t work, what happens next depends on your baby. If your baby has a different blood type than you, s/he may be given IVIG (intravenous immune globulin), a blood product that will help block the antibodies that are causing the breakdown of your baby’s red blood cells (see “Hemolytic hyperbilirubinemia” in Diagnoses/Conditions.”) If, however, the jaundice is caused by something else, if the IVIG doesn’t work, or if, at any time, your baby starts showing signs of acute bilirubin encephalopathy, your doctors will recommend an exchange transfusion. This dramatic procedure involves removing your baby’s jaundiced blood and replacing it with new blood that does not have any bilirubin in it. See “Exchange transfusion” under FAQ’s for more details about this procedure. Unless your baby has a rare genetic abnormality, such as Crigler-Najaar, glucose-6-phosphate dehydrogenase deficiency (aka “G6PD”), hereditary spherocytosis, etc., his/her neonatal jaundice, once resolved, will never return.

If your baby passed his/her first stool (called meconium) before birth, then s/he may have or develop meconium aspiration syndrome (MAS). Babies who experience some sort of stress in utero, or who go way past their due dates, may pass their first stool while still inside the amniotic sac. Because the amniotic fluid fills the baby’s lungs before birth, so-called “meconium stained fluid” can get into the baby’s lungs. This, by itself, can irritate the lung, not like smoke inhalation, resulting in difficulty breathing after birth. Also of concern is what stressor was responsible for the meconium passage in the first place. Because infection is the most common stressor, in addition to respiratory support, most babies with MAS are also treated with antibiotics. If your amniotic fluid is meconium stained any time before delivery, your obstetrician may undertake some special procedures to decrease your baby’s risk of MAS. You may receive an amniotic infusion. This is basically a “wash-out” of your uterine cavity with saline, to dilute and wash away the meconium. Your birth may be attended by a neonatal specialist. Recommendations have changed and it is no longer recommended that your obstetrician attempt to suction your baby’s mouth and throat before birth, or that the delivery attendant routinely suction your baby’s trachea with a tube. If, however, your baby’s heart rate was low, or s/he was limp and blue at birth, then a breathing tube may have been inserted to suction out his/her trachea. If your baby is still having difficulty breathing, s/he may be receiving extra oxygen and/or may be receiving CPAP (continuous positive airway pressure), or may be on a breathing machine. Just like with smoke inhalation, the irritation caused by the meconium can get worse before it gets better. Your neonatologist may administer surfactant, as the inflammatory process inactivates the surfactant that is naturally present. Chestradiographs may have a classic appearance. Some babies with MAS become horribly sick, and may develop PPHN (persistent pulmonary hypertension of the newborn) and/or require inhaled nitric oxide (iNO). ECMO (extracorporeal membrane oxygenation), otherwise known as heart-lung bypass, is the definitive therapy for complete respiratory failure and can be life-saving. This therapy is only available at selected regional centers and a critically ill baby may be too unstable to survive the transport required to get him/her to an ECMO center.

This is one of the most devastating conditions that can affect a growing premature infant, and is responsible for many deaths after the first two weeks of life. Like so many conditions that affect preterm infants, there is much that is not known about NEC. Because it tends to occur in clusters in any given NICU, it seems to have an infectious cause. However, most babies with confirmed NEC (see below for diagnosis) do not have positive blood cultures. Because it only occurs in infants who have been fed into their intestinal tracts, it is postulated that feeding substance and/or regimen plays a role. Whereas numerous studies have identified a protective effect from breastmilk feeds, no study has demonstrated a causal relationship between NEC and different types of formulas, fortifiers, and/or feeding regimens. Because lack of normal intestinal blood flow appears involved, your doctors may be reluctant to feed your baby if s/he is small for gestational age (SGA), on dopamine (see “Medications”), or is receiving medication for a patent ductus arteriosus (PDA) or other congenital heart abnormality. Contemporary views cite an interplay of many factors: poor blood flow results in weakened cellular connections in the premature intestine that allow bacteria to move across (aka “translocate”) into the bloodstream and tissues, producing gas that causes the characteristic radiographic sign of pneumatosis intestinalis. Many comprehensive review articles for NEC are available on the internet. Diagnosis is difficult in the early stages, and mild abdominal distention and/or increased amounts of milk left in your baby’s stomach prior to a feed (“aspirates” or “residuals”) most often turns out to be benign. However, because life-threatening NEC can start with these same subtle signs, your doctors may choose to perform x-rays, blood tests, and/or hold or stop feedings for a time. NEC is graded in severity using Bells’ criteria, which may also be used to direct treatment. NEC is divided into three categories: 1) Medical – with radiographic and other signs/symptoms, but no perforation. These infants usually recover, but may have difficulty feeding later on due to post-inflammatory strictures that form in the intestinal tract; 2) Surgical – perforation (aka “free air”) visible on radiograph. This is a surgical emergency, requiring immediate intervention. The surgeon will either perform an open surgery (“laparotomy”) to sew over the hole and remove any portions of dead intestine, or will place a drain at the bedside, with further surgeries later; 3) Necrotising enterocolitis totalis or fulminans – this is the most devastating form of NEC. It comes on very quickly, the baby rapidly deteriorates despite aggressive and timely interventions and, if the baby survives long enough to go to surgery, the surgeon generally finds the entire intestine has died. Although the least frequent form of the disease, this is the most feared as the baby can literally progress from “feeding and growing” to moribund or deceased within a matter of hours.

This condition occurs in babies who have become physically habituated to narcotics, who then develop potentially life-threatening symptoms when the narcotic is abruptly stopped. (It is important to note this is NOT addiction. Addiction refers to the presence of both physiologic habituation AND psychological dependence resulting in drug-seeking behavior. ) Rarely, NAS occurs in babies who have been on long-term narcotic therapy while in the NICU, and must be weaned slowly. More often, the baby was exposed while in utero; at the time of birth, the baby’s supply is abruptly stopped when the umbilical cord is cut. NAS occurs regardless of whether the mother’s narcotic use was under doctor’s orders or the result of illicit use. The law requires, however, that illicit users be reported to social services and/or the state child protection agency for evaluation of the home environment prior to discharge. How quickly the symptoms may appear depends on the half-life of the exposure drug: how long it takes the body to eliminate it. Methadone has the longest half-life, and symptoms may appear as long as two weeks after birth. Typical symptoms include jitters, high-pitched cry, unconsolability, poor feeding, spitting, diarrhea, sneezing, yawning, sweating, etc. Because an infant must be able to coordinate his/her sucking, swallowing and breathing, severe NAS can prevent the baby from feeding and, at its worst, can cause life-threatening seizures. Severity of symptoms are assessed by a standardized scale used world-wide, called the Finnegan Scale. (For a copy of the actualscoring sheet, go to http://www.lkpz.nl/docs/lkpz_pdf_1310485469.pdf.) NAS is treated by administering a narcotic to the baby in the dose required to eliminate his/her symptoms. Morphine and methadone are the most commonly used; Buprenorphrine is currently being studied for suitability. Phenobarbital historically was used as a primary agent, but is now used as a second therapy, along with clonidine. Not uncommonly, the initial dose must be increased until the desired response is seen. Once the baby’s symptoms have resolved, the medication will be very slowly decreased. Most hospitals keep a baby being treated for NAS in the hospital until the medication is no longer required, which can sometimes take weeks to months.

The ductus arteriosus (or “the duct”) is an essential blood vessel for the fetus who is not breathing air so does not need blood pumped to the fetal lungs. Like a complicated train-track switching system, the cells in the duct are programmed to close literally in the minutes to hours after birth, directing blood to go to the lungs to pick up oxygen. The cellular programming to close the duct has not yet developed in extremely premature babies, and the duct may remain open, or patent. Neonatologists can close the duct with the familiar medicines ibuprofen and indomethacin, or the duct can be tied off by a surgeon. As we learn more about premature babies, we are learning we may be able to let the duct close naturally as the baby grows, rather than intervening to close it artificially. http://php.med.unsw.edu.au/embryology/index.php?title=Cardiovascular_System_-_Abnormalities#Patent_Ductus_Arteriosus

This condition results from a lack of blood flow to developing areas of the brain, resulting in loss of brain matter that can be seen on ultrasound and/or MRI. The most common locations of tissue loss occur in the regions at the edges of the distribution of the major blood vessels – so-called “water-shed” areas.” One of these major water-shed areas occurs surrounding the areas of the brain that contain cerebrospinal fluid (CSF), called the lateral ventricles. When the small blood vessels around the ventricles (aka “peri-ventricular) are deprived of blood flow, those brain cells die and the result is holes (“cysts”) or other gaps than can be seen with various types of brain imaging. Indomethacin and other conditions that cause vasoconstriction may have a role in causing decreased blood flow into these areas. Obviously having missing brain tissue is not a good thing, and it can be expected that neurodevelopmental disabilities may result. However, the extent and severity of these neurologic abnormalities are difficult to predict for any given individual, due to the phenomenon of neuronal plasiticity. Although the developing premature brain is susceptible to injury, it also is developing! Unlike the adult brain, which is devastated by a neurologic injury, the neonatal brain seems to compensate for injury in one area by developing compensatory functional capabiliitiy in another. Thus, it is impossible to predict the extent of functional disability that will result from a given anatomic brain abnormality. This is the major reason why brain imaging studies are not helpful in predicting neurodevelopmental functioning later in life.

This is one of the most common – and most difficult – diagnosis to make in neonates. Most people are familiar with the condition “pneumonia” and may have been diagnosed with it sometime in the past. In children and adults, the condition is characterized by coughing, maybe some difficulty breathing, a fever and, most importantly, findings on a chest x-ray. Newborns are particularly susceptible to pneumonia because their lungs have just recently been filled with fluid that may be infected, their lungs are immature, and generally they are unable to contain infection due to lack of a functioning immune system. The difficulty comes with the x-ray. Chest x-rays are black, white, and shades of grey, and show you “stuff.” They don’t tell you what that stuff is, and it’s pneumonia only if that stuff is infection. But without actually taking a piece of the stuff – which is virtually never done – it’s impossible to know if what the xray is showing is infection, retained amniotic fluid, or just collapsed airsac (not inflated with air, called “atelectasis”). When in doubt, and based on your doctors’ judgment, the diagnosis of pneumonia may be “presumed” and your baby treated with antibiotics. Better safe than sorry!

Your doctor has just told you that your baby’s lung has collapsed and s/he needs a procedure to re-expand it. What does that mean??? How can your baby survive with a “collapsed lung?” The medical term for this condition is pneumothorax, and it is not uncommon in both premature and term infants, alike. In fact, when you see in the movies someone insert a ballpoint pen into the side of someone’s chest, they are treating a pneumothorax. Normal breaths occur because there is a vacuum inside your chest. When you start to inhale, your diaphragm drops, which creates suction that pulls air through your nose or mouth and fills your lungs. You exhale because your diaphragm returns to its rest position, your elastic lung springs back into its deflated shape, and the air is expelled. All of this is dependent on the presence of the vacuum. Like all of our organs, the lung sits inside its own sac that sits inside the chest. This sac is called the pleural cavity, and the membrane itself is called the pleura. If a hole forms in the pleura, the vacuum inside the pleural cavity is destroyed and not only can you not inflate your lung, but the lung deflates, or “collapses.” The treatment is to restore the vacuum, which allows the lung to reinflate, and wait for the hole to heal itself.  Big, term babies, especially Caucasian males born by cesarean section without a trial of labor, are prone to developing spontaneous pneumothorax. Preterm babies with surfactant deficiency can also develop pneumothorax. Any patient receiving positive pressure ventilation (on a mechanical ventilator or receiving CPAP) is at risk for developing a pneumothorax as a result of the treatment. Pneumothorax is definitively diagnosed by radiograph (aka "chest xray"). If xray isn't available, placing a lightsource against the chestwall may light the chest up like a Halloween lantern, so-called "transillumination". Sometimes, in emergent situations, the patient is so unstable that waiting for definitive diagnosis of pneumothorax isn’t possible, and a first responder will empirically treat by inserting a needle (or ball point pen!) through the chest wall and applying suction. This is a desperate maneuver that can be life-saving. There are a few ways to treat pneumothorax. Sometimes, no intervention is needed and the abnormal air collection will resolve spontaneously. Alternatively, the air can be drained by inserting through the chest wall a small needle attached to a syringe. The air is then sucked out by pulling on the syringe, and the lung reexpands. The definitive treatment is placement of a chest tube. This is necessary when the above methods fail, or if the patient is unstable or in shock. The chest tube is attached to a device that is attached to continuous suction, called a Pleuro-vac.™ Sometimes more than one chest tube is required. The air leak usually heals within a few days and the chest tube can be removed. Rarely, a broncho-pleural fistula can form, which requires surgical intervention.