Dr. Allen Cherer is a neonatal care expert with over 30 years of medical accomplishments to his name.

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Exploring Neonatal Sepsis

Neonatal Sepsis is a blood infection that infants may develop before reaching 90 days of age. Babies can also develop early-onset and late-onset sepsis.

Causes?

A bacteria named Eschericia coli (E coli) and Listeria can cause infants to develop sepsis. A specific streptococcus strain (Group B streptococcus or GBS) can also make an infant ill. If the baby’s mother contracts herpes simplex virus (HSV), this can also lead to neonatal sepsis.

An early-onset case usually develops 24 to 48 hours after the baby’s birth, usually by being exposed during birth. 

Contributors to early-onset sepsis:

  • Preterm delivery
  • GBS colonization during mother’s pregnancy
  • Placental tissues and amniotic fluid become infected (chorioamniontitis)
  • Early rupture of membranes (more than 18 hours)

Late-onset sepsis risks:

  • Extended hospitalization for infant
  • Keeping a catheter in baby’s blood vessel for an extended time

Symptoms?

  • Breathing problems
  • Changes in body temperature
  • Decreased bowel movements or diarrhea
  • Reduced movements
  • Low blood sugar
  • Reduced suckling
  • Heart rate is fast or slow
  • Seizures
  • Vomiting
  • Swollen abdomen
  • Jaundice (yellow skin and whites of eyes)

Diagnostic Tests?

Pediatricians perform the following diagnostic tests:

  • C-reactive protein
  • Blood culture
  • Complete blood count (CBC)
  • Lumbar puncture
  • Urine, skin or stool cultures to search for herpes virus
  • Chest X-ray (if baby has difficulty breathing)
  • Urine cultures

Treatments?

Even if the newborn is symptom-free, they will receive intravenous antibiotics. Babies younger than 4 weeks with fever or other symptoms receive IV antibiotics immediately.

The baby stays on antibiotics for three weeks if bacteria is in the spinal fluid or blood. This is shorter if no bacteria is present.

Acyclovir (antiviral medication) is given for HSV-caused infections.

If the baby has already gone home, it will be re-admitted to the hospital for treatment.

Outlook?

The infant may recover completely and show no evidence of any other problems. Neonatal sepsis can lead to infant death. The sooner treatment starts, the better the prognosis.

Potential Complications?

  • Disability after illness
  • Death

Prevention?

Pregnant mothers should receive preventive antibiotics if they have these illnesses:

  • Group B strep colonization
  • Chorioamnionitis
  • Has already had a baby with bacterial sepsis
  • This condition is preventable. Babies should be delivered 12 to 24 hours after water breaks.

Other Names?

Other names include:

  • Neonatal septicemia
  • Sepsis – infant
  • Sepsis neonatorium
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A Closer Look at Neonatal Alagille Syndrome

Roughly 1 out of 70,000 newborns is born with neonatal Alagille syndrome. This condition is often present at birth, though it can take several years for the symptoms to become present. Here are some important facts that parents need to know about neonatal Alagille syndrome.

What Is Neonatal Alagille Syndrome?

Neonatal Alagille Syndrome is a type of genetic disorder that children can inherit from their parents. People with neonatal Alagille syndrome have a mutated or missing copy of a gene labeled Jagged1 on chromosome 20. Problems with this gene are associated with a wide range of liver, heart, and eye problems. Due to a variety of skeletal abnormalities, people with neonatal Alagille syndrome tend to have a very characteristic appearance. Alagille syndrome is also referred to as Alagille-Watson syndrome, syndromic bile duct paucity, or arteriohepatic dysplasia.

What Are the Neonatal Alagille Syndrome Symptoms?

Not all people with neonatal Alagille syndrome have the same symptoms present. The condition can just cause minor issues like some changes to facial features, or it can cause severe heart and liver disease. Some of the most common symptoms include:

  • Deep-set eyes
  • Straight nose
  • Triangular face shape with pointed chin
  • Jaundice
  • Heart murmurs
  • Cardiac anomaly
  • Short height
  • Butterfly shaped vertebrae
  • Kidney abnormalities
  • Eye abnormalities

Parents should keep in mind that some symptoms, like kidney abnormalities, can take a while to notice. Signs that these organs are not functioning properly can include chronic itchiness, fatigue, pale skin, fluid retention, weakness, or abnormally pale feces.

How Is Neonatal Alagille Syndrome Treated?

Treatment for neonatal alagille syndrome typically relies on what symptoms the patient is presenting. Many children have mild enough Alagille syndrome that they just need to eat a healthy diet and get plenty of rest to help with issues like delayed puberty or failure to thrive. Certain medications can help with things like improving bile function, stabilizing kidney function, and helping the heart run properly. However, in more serious situations, surgery may be necessary. Surgeries can help to correct skeletal issues, replace malfunctioning kidneys and livers, or treat cardiac abnormalities.

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Echogenic Bowel: An Overview

Though it is not an incredibly common diagnosis, there are still thousands of fetuses diagnosed with an echogenic bowel each year. Roughly 1.8 percent of all fetuses have echogenic bowel, and their parents often wonder what exactly this term means. Understanding all the details about echogenic bowel will help parents discover how to handle this condition.

What Is Echogenic Bowel?

This term is simply used to refer to a fetal bowel that is abnormally bright when viewed on an ultrasound. Ultrasounds are always in shades of black, grey, and white, with denser tissue being bright white and fluid being black. Usually, the bowels of the fetus tend to be a dark grey on an ultrasound because they are softened tissue, but if a fetus has echogenic bowel, their bowels may look as bright as thick bones like the pelvic bone.

What Does It Mean to Have Echogenic Bowel?

When parents first hear this word, they often start to wonder if it is a serious problem. The reality is that it is not always a sign of a health condition. 0.5 percent of all perfectly healthy fetuses have an echogenic bowel, and it can just occur due to various fluctuations in growth. However, echogenic bowel can be a cause for concern because it is more common in babies born with Down syndrome or cystic fibrosis. It can also be a sign that the fetus is suffering from an intestinal obstruction or an infection like cytomegalovirus or toxoplasmosis.

How Is Echogenic Bowel Treated?

The method for addressing echogenic bowel typically depends on the severity. Low grade echogenic bowels which are less dense than bone are normally harmless, so doctors tend to take a “wait and see” approach. They normally recommend taking a more detailed ultrasound in a few weeks to check up on the growth of the fetus. However, for more severely echogenic bowels, doctors may recommend a maternal serum screening, blood tests, or an amniocentesis to determine if the fetus has Down syndrome, infections, or cystic fibrosis. To make sure that the pregnancy continues safely, doctors will usually do regular fetal monitoring to make sure the fetus is growing properly following a display of echogenic bowel.

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A Closer Look at Prader-Willi Syndrome

Prader-Willi syndrome is a genetic disorder that is generally rare. It occurs in approximately one out of every 12,000 births and results in weak muscle tone, delayed development, and poor growth. Around the age of two, children with the condition develop an insatiable appetite that can lead to obesity. The condition was first identified by Drs. Labhart, Prader, and Willi in 1965.

Symptoms

Symptoms of Prader-Willi syndrome include:

  • Weak muscle tone
  • Poor feeding in newborns
  • Delayed development
  • Obesity
  • Chronic overeating (hyperphagia)
  • Distinct facial features, which include almond-shaped eyes, turned-down mouth, narrowing of the forehead at the temples and a thin upper lip
  • Underdeveloped genitals
  • Compulsive behavior
  • Extreme stubbornness
  • Angry outbursts
  • Short stature
  • Delayed puberty
  • Sleep problems

Cause

Prader-Willi syndrome is caused by a loss of the function of the genes 11-13 on chromosome 15. In an estimated 70 to 80 percent of people with the syndrome, the region of genes is missing due to deletion of paternal genes. In other cases, there may be two copies of chromosome 15 inherited from the mother or a defect in the paternal genes on chromosome 15.

The loss of function on chromosome 15 disrupts the operation of a part of the brain known as the hypothalamus. The hypothalamus is responsible for the release of hormones in the body. Without the normal release of hormones, growth, body temperature, hunger, sleep, and sexual development can all be affected.

Complications

Obesity is common in those with Prader-Willi syndrome. People with the condition have lower muscle mass and are less likely to be physically active. As a result, they need fewer calories. Unfortunately, the hypothalamus is responsible for releasing hormones to signal feelings of fullness after eating. This results in people with the condition eating too many calories and becoming overweight or extremely obese.

Type 2 diabetes, sleep apnea, gallbladder, heart and liver problems may all result from obesity. People with the condition are encouraged to work with a dietitian to eat the proper amount of calories in order to prevent complications from occurring. Additionally, most people with Prader-Willi syndrome may experience fertility problems and are at an increased likelihood of developing osteoporosis.

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DiGeorge Syndrome: An Overview

Primarily observed in children under the age of two, DiGeorge Syndrome is a rare neonatal chromosomal disorder affecting bodily development. The condition, which is also called 22q11.2 deletion syndrome, is caused by a defect in chromosome 22 and has a varying range of symptoms impacting both physical and mental growth. In some cases, it can be passed genetically from an affected parent to a child.

Due to the condition’s long list of symptoms — many of which are caused by a myriad of other conditions — DiGeorge Syndrome can be difficult to diagnose and treat, which means you will need to seek out an accurate and prompt evaluation from a trusted healthcare professional. Starting out, however, here is a quick overview of the condition to potentially point you in the right direction.

Knowing the signs

As mentioned before, symptoms of DiGeorge Syndrome can be vast, and therefore the condition can be hard to pinpoint at first. That said, there are several broad symptoms that have become listed as common warning signs; these include, but are certainly not limited to:

  • Cyanosis (a bluish tint to the skin caused by a lack of oxygen).
  • Learning difficulties, including those typically associated with Attention Deficit Disorder (ADD)
  • Skeletal abnormalities
  • Seizures and other epileptic symptoms
  • Feeding problems and failure to gain weight

Other, less externally evident symptoms may include autoimmune disorders, heart murmurs, frequent infections, and issues with the palate. In any scenario, the easiest and most established way to diagnose the condition is genetic testing, which can

Treating DiGeorge Syndrome

Unfortunately, there is currently no known cure for DiGeorge Syndrome — though certain symptoms may be individually treatable; this can fluctuate based on the urgency of the symptoms in question. For example, symptoms associated with certain immune-based disorders should ideally be addressed sooner than later to increase the chances of effective treatment. Other condition-based byproducts, like learning disabilities and anxiety, can be mitigated through proper intervention aimed at fostering intellectual growth and emotional stability.

These efforts may not treat the underlying root of the issue, but they can help on other fronts, such as improving the child’s overall quality of life.

Prevention can also be key in stopping the condition; if you feel you may have a family history of DiGeorge Syndrome, consult a specialist prior to any future pregnancies.

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Respiratory Distress in Newborns

Respiratory distress syndrome, or RDS, is a common lung complaint for infants. This is especially true in premature babies, born before 37 weeks. The more premature the baby, the greater the chance the child will develop RDS.

RDS is caused by a shortage of pulmonary surfactant. Surfactant is a liquid that helps keep air sacs in the lungs, known as alveoli, open. Alveoli are critical. They are the site of the exchange of oxygen and carbon dioxide. They make it possible for the blood to be oxygenated fully. Since surfactant makes this possible, it’s a very important substance indeed.

There are several risk factors for RDS. In addition to prematurity, babies with RDS are more likely to be white, male, and multiples. Mothers with diabetes are more likely to give birth to RDS babies. Babies delivered by c-section are also more likely to develop this problem.

Parents of babies with some of these risk factors should be aware of the symptoms of respiratory distress syndrome. Babies with RDS breathe fast. They may grunt, making an ugh sound with each breath. Their nostrils will flare every time they breathe. Finally, they can have retractions, where the skin pulls under the rib cage or in between ribs with each breath. Their skin may not be as pink as that of a typical baby.

Luckily, there is treatment for RDS these days. Delivery of oxygen by nasal cannula is one treatment. A CPAP, or continuous positive airway pressure, machine can be used to push air into an infant’s lungs. This will keep the alveoli open. Severe cases of RDS can require a ventilator.

Ventilators are a serious measure. They require intubation, or a tube being placed down the infant’s windpipe. Ventilators are only used in babies who can’t breathe well without assistance.

In addition to helping deliver more oxygen, the issue of a lack of surfactant can also be addressed. Surfactant can be delivered directly to the lungs, also via intubation. Medications to calm the infant are also used, especially when intubation is required.

RDS can sometimes also be associated with infections. In those cases, antibiotics may be given to the infant. Not every baby requires all of these treatments. In some cases, babies get worse before getting better. RDS is, in general, very treatable.

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Persistent Myths in Neonatology

Neonatology is a medical specialty that deals with the care of newborns. It’s a subspecialty of pediatrics. In recent years, neonatologists have taken steps to demystify infant care. Part of that means confronting myths about caring for babies that have existed for generations.

Typically, these myths are spread by well-meaning friends and families. They want to help new parents and truly believe they’re passing on sound advice. However, much of this advice is badly out of date. Evidence-based medicine supported by double-blind trials has disproved much of it.

Nutrition and diet are common areas where myths abound. There are several nutrition myths about preemies and full-term babies. Nutrition myths can be focused on what babies eat, how they are fed and how their meals are prepared.

An example of a nutrition myth is that infant formula must be sterilized before feedings. This hasn’t been a recommended practice since the 1950s. In developed countries with clean water, preparing bottles with clean tap water is sufficient. Bottles and nipples should, of course, be washed with soap and water. But boiling is not necessary.

Other myths that persist are often centered on fevers. Parents misunderstand which fevers are serious. They can also attribute fevers to milestones like teething. Studies since the 1990s have shown that there’s actually no link between fever and teething. Even on days when new teeth erupt, an average temperature should not be above 100 degrees. This is a slight elevation, but not a dangerous fever.

Parents typically see fevers of about 102 as serious, high fevers. This is rarely the case. While calling a pediatrician can be prudent in these cases, typically the fever itself is not serious. Causes of fever can also be misunderstood, even by medical professionals. Sometimes, doctors attribute fever in newborns to dehydration. While this may be the case, it’s also important to rule out causes like infection before settling on that diagnosis.

It’s important to continue to talk about these neonatology myths. They are often handed down from previous generations in families. While they represent advice that was cutting-edge in the past, they can create more work for parents in the present. Medical professionals should also ensure that they are keeping up with literature, so that they can avoid pitfalls in treating newborn babies.

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Neonatology: an overview

Neonatology is a type of pediatrics, focusing specifically on medical care for newborns. The primary patients of neonatology are newborn infants who were born ill or became ill shortly after birth.

Here is a quick overview of this medical concentration, for those unfamiliar.

Origins of Neonatology

Neonatology is a very recent concentration of pediatrics. High infant mortality rates existed as early as the late 1800s. The first premature infant incubator station was created in Chicago by Joseph DeLee. The first NICU (newborn intensive care unit) was established in New Haven, Connecticut. Neonatology was officially recognized as an official subspecialty of pediatrics in 1975 by the American Board of Pediatrics.

Modern Neonatologists

Modern neonatology physicians are not here to help with minor problems; a normal pediatrician will be able to assist with most medical issues in infants. A neonatologist is trained to deal with high-risk situations. Premature babies, birth defects, and other serious issues are handled by neonatologists.

Neonatologists are serious doctors, and it takes serious time to become qualified. In addition to a standard college education, a doctor must have 4 years of medical school, 3 years of residency in pediatrics, 3 more years of residency in newborn intensive care, and they must be certified by the American Board of Pediatrics.

In addition to neonatologists, there are neonatal nurse practitioners. These nurses are specialized in neonatal care, and they will be assisting the physician along the way. They are able to diagnose some issues, prescribe medication, and some can even perform medical procedures themselves.

A neonatologist may assist with the diagnoses of breathing disorders, certain infections, and birth defects. They will also be the primary strategist in treatment options for an infant. They will formulate nutrition plans to make sure an infant will have maximum growth. A neonatologist will work closely with other medical staff, pediatricians, and nursing staff to assist with any serious illnesses in newborns.

Neonatologists are Best for Newborns

Minor problems for adults could mean possible death for an infant. That’s why specialists are needed for infants. There are also many common postpartum issues that a neonatologists can assist with. Many of these are routine for them; however, rare diseases and disorders can be diagnosed by a neonatologist as well.

Neonatal jaundice, neonatal cancer, inborn errors of metabolism, neonatal diabetes mellitus, neonatal herpes simplex, and neonatal seizure are a few of the more common problems a neonatologist will assist with.

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The Prevention of Cystic Fibrosis in Newborns

Cystic fibrosis is one of the most common conditions caused by genetics. One baby out of every 3,500 live births will have cystic fibrosis. Cystic fibrosis affects the respiratory and digestive systems. Normally, the mucus that lines organs in the body is thin and slick with a consistency slightly thicker than water. Babies who are born with cystic fibrosis have mucus that is sticky and thick. If the mucus builds up, it makes breathing difficult. Additionally, the thick mucus can prevent nutrients from being absorbed properly, which may lead to poor growth.

Causes of Cystic Fibrosis

Cystic fibrosis is a genetic condition and must be inherited from a parent. A gene mutation causes cystic fibrosis. When it is passed on to a child, the baby will be born with the condition. There is no way to prevent cystic fibrosis from occurring in newborns.

Diagnosis of Cystic Fibrosis

In the United States, newborns are regularly screened for cystic fibrosis. A small amount of blood is taken from the newborn and examined for high levels of a chemical called immunoreactive trypsinogen (IRT). If IRT levels are higher than normal, a secondary test will be run in order to rule out other conditions that can also present with high IRT levels.

The second test is known as a “sweat test.” Newborns with cystic fibrosis have more salt in their sweat than normal. Medication will be administered to the baby that causes sweat to form. This sweat will then be tested for sodium levels. If sodium levels are high, cystic fibrosis is typically diagnosed. Additional tests, such as genetic tests, may also be performed to confirm the diagnosis.

Treatment of Cystic Fibrosis in Newborns

When diagnosed early, cystic fibrosis has a higher success rate of treatment. Prescription medications can help prevent infections from occurring, reduce lung damage and decrease inflammation. Physical therapy will help loosen the thick mucus and make it easier for babies to breathe. A special diet will help increase food absorption and help newborns with the condition grow and thrive.

Cystic fibrosis is a life-threatening condition that requires continual care. Though there is no way to prevent cystic fibrosis in newborns, medical advancements can help babies diagnosed with the condition live longer and healthier lives than ever before.

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Neonatology: a Brief History

Physicians and scientists began recognizing that premature or ill newborns required specialized care in the 1700s. However, it would be another century before a physician would take the first steps toward improving neonatal health. In the coming years, advancements in science and technology steadily enhanced the chances that preterm infants survived.

19th Century 

French obstetrician Etienne Stephane Tarnier recognized that premature infants were unable to maintain their body temperature. The physician invented the first incubator using a wooden box with a glass lid. The heat was provided by a hot water bottle. As a result, infant mortality decreased by 28 percent.

Pierre-Constant Budin trained under Dr. Tarnier and became a pioneer in neonatal nutrition during the late 1800s. Dr. Budin was aware of the risks of feeding newborns cow’s milk due to pathogens. He encouraged his new mothers to breastfeed. He was also responsible for introducing tube feeding for preemies who were unable to feed naturally.

By the early 1900s, Martin Couney, one of Dr. Budin’s students, improved upon Tarnier’s incubator design. However, the medical community was not accepting and the devices were not used in hospitals. In order to gain attention for the need, Dr. Couney began treating infants free of charge and demonstrated his invention at expositions and fairs.

20th Century 

For the most part, premature or ailing infants were not provided medical care. It was not until after World War II that the medical community recognized the need to offer specialized care. During this era, hospitals began developing “Special Care Baby Units” that eventually evolved into NICUs. Along with providing sufficient warmth, the units ensured that the infants received oxygen. There was also increasing awareness of an infant’s susceptibility to infection, which led to stringent hand washing.

Formulas for premature infants were introduced during this time. The formulas contained increased levels of calcium, phosphorus, sodium and protein. However, the high protein levels soon created a number of problems. As such, whey proteins were used.

Beginning in the 1960s, laboratory tests and values were established to monitor infant health. Physicians created a way to evaluate blood gases, bilirubin levels and liver function along with checking electrolytes, blood sugar and oxygen levels.

Advancements in knowledge and technology meant that infants born after 23 weeks of gestation had a survival rate of 33 percent. Infants born after 24 weeks had a survival rate of 66 percent. The survival rates continue growing each year.

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