The developmental process begins with conception and progresses as a gradual modification of the structure and characteristics of the individual (Figure 2-1). The first 2 months of the gestational period is considered the embryonic period, after which the developing human being is considered a fetus. At any point in this prenatal development, during the birth process (perinatal period), or during the neonatal and postnatal periods, the development may diverge from normal, generating a developmental dilemma. Causes of these dilemmas can be many or even unknown. Pregnant women are encouraged to abstain from smoking, consuming alcohol, and taking any form of medication or drugs without their physician’s knowledge and consent and to prevent any situation that may expose the developing fetus to toxic substances. Table 2-1 describes the specific stages of development during this important period of life. E2-1

Congenital Anomalies

Congenital anomalies can be mental or physical and can vary widely in severity, from trivial to fatal. They are present at birth but might not be detected until later in infancy or childhood. The limbs or organs may be malformed, duplicated, or entirely absent. Organs sometimes fail to move to their proper location or fail to open or close at the right time. Anomalies are seldom isolated and are likely to occur in multiple forms and/or organs or organ tissues.

The cause of congenital defects may be genetic, nongenetic, or a combination of both. Nongenetic causes include infection in the mother, drugs taken by the mother, the age of the mother, radiographic examination made early in pregnancy, or injury to the pregnant woman or the fetus. The cause often is unknown. However, prenatal care and advanced surgical techniques have greatly improved the management of anomalies that are compatible with life. Parents of a special-needs child face emotional and physical challenges and deserve medical attention. A team approach is ideal, including medical assessment by physicians and appropriate therapy for the child, and family involvement and participation in a support group for the parents.

Genetic Disorders and Syndromes

Genetic syndromes are a form of congenital anomalies. Genetic information is contained in microscopic threadlike structures in the nucleus of human body cells. The genetic material contained within the genes is responsible for inheritance traits. Each cell within the human body contains 46 chromosomes arranged in 23 pairs. Twenty-two pairs of the chromosomes are termed homologous pairs and the remaining pair is the sex chromosomes.

Genetic disorders and syndromes are the result of an abnormal gene taking up residence on one of the 22 pairs of nonsex chromosomes. The 22 pairs of homologous pairs are also identified as autosomes. When the abnormal gene that causes the condition is on one of the 22 pairs of autosomes, the condition is termed an autosomal inherited condition.

Some of the autosomal inherited conditions have a dominant pattern of inheritance; other conditions may be the result of autosomal recessive traits. Dominant inheritance occurs when only one gene of the pair has the ability to produce symptoms, thus making it dominant over the normal gene. The parent who carries the abnormal gene has a 50% chance of transmitting the defective gene to each of his/her offspring. When the condition is considered as autosomal recessive inheritance, the parent’s abnormal genetic makeup must have genetic errors on both of the genes of the pair resulting in the carrier usually having no symptoms of the disorder. The autosomal recessive disorder has a 25% chance of surfacing when two carrier parents conceive a pregnancy. The child could be affected by the autosomal inherited condition when the pair of affected genes are present.

Methods of Prenatal Diagnosis

One can diagnose congenital anomalies in a fetus by taking a fluid sample from the amniotic sac between the 15th and 18th weeks of pregnancy. This procedure, known as amniocentesis, allows amniotic fluid to be tested and cells to be microscopically examined for abnormal substances or chromosomal abnormalities. An example of an abnormal substance is an elevated alpha-fetoprotein (AFP) level. Amniocentesis is not without risk to the mother and baby.

Abnormalities of the spine, skull, and many organs such as the heart and kidneys may be discovered during ultrasound studies of the fetus. An alternative procedure called chorionic villus biopsy (CVB) can be performed in the second month of pregnancy. The gynecologist, guided by ultrasound, directs an instrument toward the placenta in the womb and obtains a tissue sample. The safety of this procedure has not been proven, and some data link this test to limb abnormalities.

Many, but not all, congenital disorders can be detected through prenatal diagnosis (Figure 2-2).

The diagnosis of potential genetic or neural tube deficit disorders may provide the future parents with time to obtain counseling and to prepare for the many health needs of the infant before the child’s birth. When the testing indicates a potential abnormality, the delivery and nursery staff is provided with the opportunity to prepare for the delivery. E2-2

 Enrichment

Conjoined Twins

During the conception process, the fertilized egg—the embryo—may divide, creating identical twins. Conjoined twins result when the separation process of identical twins fails to complete before the 13th day after fertilization

As with identical twins, the embryo originates from a single fertilized ovum and occupies one placenta. For an unidentifiable reason, however, the normal separation of the embryo into twins stops before completion, resulting in a partially separated embryo that continues to mature into conjoined fetuses. Conjoined twins occur more often in female embryos than in male embryos and result in two fetuses that are joined at some point on their bodies. More of these children are being born alive as a result of specific prenatal diagnosis and surgical intervention to facilitate the delivery.

These children may be joined at different locations of the body and may share various organs. The attachment to each other may involve a small portion of tissue or may be as extensive as fusion at the head or sharing of an organ or body part. Common types or variations usually are categorized by the location and involvement of the junction through the term pagus, meaning fastened, included in the classification terminology.

Twins with a cranial union are considered to be craniopagus. Those with anterior junction at the chest, often sharing the heart and vital portions of the chest wall and internal organs, are called thoracopagus conjoined twins. The term pygopagus describes those twins who are joined posteriorly at the rump. Another posterior junction occurring at the sacrum and coccyx is termed ischiopagus. When the connection proceeds from the breastbone to the waist, the term omphalopagus describes the junction. A very rare form, dicephalus, is the condition in which the individual has one body and two separate heads and necks.

Modern technology and medical advances have recently helped physicians and surgical teams to successfully separate some of these twins. In some separation procedures, one or both of the children have died during or shortly after the surgery. The children and their families require emotional support and education about the possible outcomes of the condition. E2-3

Prematurity

Preterm Birth or Prematurity

Description

Preterm birth or prematurity is the result of birth before the 37th gestational week of pregnancy. The condition of prematurity describes the birth of a low-weight, underdeveloped, and short-gestation infant and is considered the leading cause of death during the neonatal period. These high-risk infants are born with incomplete development of organ systems. These infants are at a greater risk than full-term infants for developing serious health problems including: cerebral palsy, mental retardation, chronic lung disease, gastrointestinal problems, vision and hearing loss, and multisystem developmental delays. E2-4

 ICD-9-CM Code 765.00 (Extreme immaturity)

 ICD-10-CM Code P07.00 (Extremely low birth weight newborn, unspecified weight)

(P07.00-P07.03 = 4 codes of specificity)

P07.10 (Other low birth weight newborn, unspecified weight)

(P07.10-P07.18 = 6 codes of specificity)

    Usually implies a birth weight of less than 1000 grams. This code requires the additional code for weeks of gestation (765.20-765.29).

 ICD-9-CM Code 765.10 (Other preterm infants)

 ICD-10-CM Code P07.00 (Extremely low birth weight newborn, unspecified weight)

(P07.00-P07.03 = 4 codes of specificity)

P07.10 (Other low birth weight newborn, unspecified weight)

(P07.10-P07.18 = 6 codes of specificity)

    Usually implies birth weight of 1000 to 2499 grams. This code requires the additional code for weeks of gestation (765.20-765.29).

Weeks of Gestation:

 ICD-9-CM Code

765.20 (Unspecified weeks of gestation)

765.21 (Less than 24 completed weeks of gestation)

765.22 (24 completed weeks of gestation)

765.23 (25-26 completed weeks of gestation)

765.24 (27-28 completed weeks of gestation)

765.25 (29-30 completed weeks of gestation)

765.26 (31-32 completed weeks of gestation)

765.27 (33-34 completed weeks of gestation)

765.28 (35-36 completed weeks of gestation)

765.29 (37 or more completed weeks of gestation)

 ICD-10-CM Code

P07.20 (Extreme immaturity of newborn, unspecified weeks)

(P07.20-P07.23 = 4 codes of specificity)

P07.30 (Other preterm newborn, unspecified weeks)

(P07.30-P07.32 = 3 codes of specificity)

P07.21 (Extreme immaturity of newborn, less than 24 completed weeks)

P07.22 (Extreme immaturity of newborn, 24-26 completed weeks)

P07.23 (Extreme immaturity of newborn, 27 completed weeks)

P07.31 (Other preterm newborn, 28-31 completed weeks)

P07.32 (Other preterm newborn, 32-36 completed weeks)

P07.30 (Other preterm newborn, unspecified weeks)

Symptoms and Signs

Premature babies may weigh down to 12 ounces or less at the time of birth. Their physical development is at various stages depending on the length of gestational time. The smaller of these infants has little subcutaneous fat, palms and soles with few creases, possible undescended testes in the male, and a prominent clitoris in the female. Many of these very tiny and immature babies lack the ability to suck or swallow or have weakened sucking or swallowing reflexes. The lungs are often underdeveloped, leading to respiratory dangers. The immature neurologic system can lead to some difficulties in maintenance of body temperature, problems in controlling cardiac function, spontaneous episodes of apnea, or may result in seizure activity. An immature immune system makes the risk of infection high.

Patient Screening

Pregnant patients who contact the physician to say they may be in labor require prompt attention. The pregnant patient who is more than 3 weeks before her due date and thinks she is in labor must be assessed as quickly as possible. Many physicians prefer that these patients go directly to the hospital at which they plan to deliver. Others prefer to see the patient in the office as soon as possible. When the patient arrives at the office, she should be placed in the examination room and the physician promptly notified that she is in the office.

Etiology

There are many reasons that these infants enter the world before reaching the traditionally accepted gestational age of 40 weeks and thus have very low birth weights. Causes of premature labor resulting in a premature infant are an incompetent cervix, bicornate uterus, toxic conditions, maternal infection, trauma, premature rupture of the amniotic membranes, history of previous miscarriages, multiple gestations, intrauterine fetal growth retardation, and other physical conditions of the mother, such as pregnancy-induced or chronic hypertension. Diabetes, heart disease, kidney disease, poor nutrition, substance abuse, and lack of prenatal care also contribute to the incidence of the mother giving birth to a preterm infant. In some cases, the etiology is never identified. Attempts may be made to halt premature labor by having the mother on complete bedrest or using drug therapy to slow or halt contractions. The mother is often given a short course of steroids to aid fetal lung maturation. Many times the efforts to allow the fetus more time to grow and mature in the mother’s uterus are unsuccessful.

Diagnosis

Diagnostic criteria include a gestational age of less than 37 weeks. Neonates diagnosed as small for gestational age (SGA) are low-weight infants (less than 5 lb, 8 oz) that may or may not be premature.

Treatment

Treatment varies depending on the gestational age, weight, present or subsequent conditions, anomalies, and nutritional status. Intravenous (IV) fluids and hyperalimentation are necessary to encourage growth and development of the premature infant. Airway management and pulmonary functioning are monitored very closely. Many of the smallest babies are intubated endotracheally, and respiration is maintained by mechanical ventilation. Recent advances in respiratory care for tiny premature infants permit extubation of the infant and maintenance of the airway by continuous positive airway pressure (CPAP) through the nose. Pulse oximeters constantly monitor oxygen (O₂) saturation levels and heart rate. Body temperature is monitored closely and maintained at normal levels (Figure 2-4). When infection is a risk due to maternal prenatal infection or extended time of ruptured amniotic sac, vigilance is required for the onset of any symptoms of infection and antibiotics are often started presumptively. When early signs of infection occur, aggressive treatment is introduced. Monitoring of blood glucose, blood pressure, and body temperature are performed on a frequent and regular basis and any treatment necessary is instituted to maintain optimal levels.

Comfort measures include placing an article with the mother’s scent in the isolette or crib with the infant. These tiny babies are swaddled to simulate the closeness and feeling of the womb. Lights are kept at a dim level and harsh auditory stimuli are kept at a minimum.

Prognosis

Advances in technology have made survival of low-weight and short-gestation infants possible. The prognosis for these children varies depending on gestational age, weight, and the occurrence of anomalies and developmental deficits. There are documented cases of 12-ounce and/or 22-gestational-week babies surviving. They fall into the 1% of premature babies born at that weight and gestational age. Being born before the normal prenatal development is complete, these children often have many problems to overcome (Figure 2-5).

A primary risk is a cerebral bleed, which may occur during the labor and delivery process or may result from handling after delivery. The cerebral bleed may cause the development of cerebral palsy, mental functioning deficiencies, or other neurologic conditions.

Another major concern is underdevelopment of the pulmonary system, including the lung tissue and the airway. Some pulmonary conditions these infants experience are infant respiratory distress syndrome (IRDS), bronchopulmonary dysplasia (BPD), laryngomalacia, tracheomalacia, and bronchomalacia. Lack of body fat can affect the maintenance of body temperature. Any stress or increased or high supplemental O₂ flow may be responsible for retinopathy of prematurity (ROP) and possible blindness. Necrotizing enterocolitis (NEC) is a danger in the digestive system because of the reduced tolerance of the alimentary tract. Atrial septal defect (ASD) and patent ductus arteriosus (PDA) often are present because the fetal circulatory system has failed to mature.

The generally accepted gestational age for 50% of infants to survive the birth process and perinatal period is 24 weeks, with a greater percentage of infants surviving as gestational age increases. Improvements in technology are making it possible for more and more of these tiniest infants to survive (Figure 2-6). E2-5

Prevention

Preventing prematurity requires good prenatal care, adequate nutrition, and assessment of the pregnant patient’s risk factors for premature labor. Abstaining from consuming alcohol and smoking cigarettes helps to reduce the risk of premature birth and/or low birth weight. Additionally, bed rest of the expectant mother may delay the onset of premature labor and create more time for the fetus to develop. Drug therapy may be used in an attempt to stop premature labor that results in premature birth (see Chapter 12).

Patient Teaching

Encouraging pregnant women to obtain prenatal care and to follow guidelines is important. Pregnant women should be instructed to contact their physician at the first sign of labor, especially labor before the 37th week of gestation. Parents of premature infants will need emotional support and should be educated in the possibility of complications resulting from prematurity.

Infant Respiratory Distress Syndrome

Description

IRDS or hyaline membrane disease is similar to adult respiratory distress syndrome in that the patient suffers acute hypoxemia caused by infiltrates within the alveoli.

 ICD-9-CM Code 769

 ICD-10-CM Code P22.0 (Respiratory distress syndrome of newborn)

(P22.0-P22.9 = 4 codes of specificity)

Symptoms and Signs

Shortly after birth, the neonate exhibits signs of respiratory distress, including nasal flaring, grunting respirations, and sternal retractions. Blood gas studies indicate reduced oxygen tension and ineffective gas exchange. The infant becomes cyanotic, with mottled skin.

Patient Screening

The infant will be hospitalized, usually in a neonatal intensive care unit (NICU). The NICU staff observes the infant for signs of respiratory distress, and immediate intervention is instituted at the first signs of distress.

Etiology

The lungs of the neonate lack the surfactant needed to allow the alveoli to expand. The surfactant normally is produced relatively late in fetal life; consequently, premature infants are at risk. The outcome of this inability of the lungs to expand is inadequate surface area for proper gas exchange and a potentially fatal lack of oxygen in the blood.

Diagnosis

The first indications of IRDS are increased respiratory efforts of the newborn and a history of prematurity. Blood gas studies demonstrate the reduced potential for adequate gas exchange. Radiographic chest films indicate the presence of the infiltrate or hyaline membrane.

Treatment

Treatment consists of the administration of carefully titrated supplemental oxygen, usually administered by mechanical ventilation and positive end-expiratory pressure (PEEP), and is of primary importance. Drug therapy, including the aerosol infusion of an exogenous surfactant, such as beractant (Survanta) or poractant alfa (Curosurf) into the pulmonary tree by an endotracheal tube as soon as possible after birth, helps to provide an artificial surfactant, allowing the alveoli to expand. This treatment should begin within the first 48 hours of life and be repeated once or twice if needed until the alveoli are expanded.

Prognosis

The prognosis for these infants’ survival has improved greatly because of a better understanding of their condition and advanced technology in drug and respiratory therapy. E2-5

Prevention

Prevention is the best treatment; therefore, if time permits, the mother is injected with a corticosteroid (betamethasone [Celestone Soluspan]) 24 hours before delivery in an attempt to mature the surfactant-synthesizing system.

Patient Teaching

Give the parents printed information about the disease. Parents will need emotional support and understanding. They should be referred to community support groups. Allow the parents to verbalize their anxieties and fears to a compassionate and understanding individual, thus providing a validation of their situation.

Unfortunately, the occurrence of IRDS, along with its treatment modalities, often predisposes premature infants to the development of bronchopulmonary dysplasia (BPD).

 Enrichment

Laryngomalacia, Tracheomalacia, and Bronchomalacia

Laryngomalacia, tracheomalacia, and bronchomalacia all are forms of obstructive airway conditions. They can evolve as separate entities or can develop in a combination of two or even all three conditions. Although most often observed in the infant or young child, these conditions may be found in adults. The primary cause in all conditions is softened or underdeveloped cartilage (malacia), allowing the airway structure or structures to partially or completely collapse and compromise the airway.

The infant with laryngomalacia exhibits respiratory stridor that is louder on inspiration. The infant with tracheomalacia also exhibits respiratory stridor; however, the stridor is more pronounced on expiration. All these congenital conditions cause infants to experience dyspnea and possibly episodes of cyanosis. Oxygen saturation levels decrease, and infants may experience bradycardia. Infants occasionally experience feeding difficulties. Diagnostic studies include chest radiographs, computed tomography (CT), flexible fiberoptic laryngoscopy, and bronchoscopy. Treatment is based on the underlying cause after it has been determined. Most of these children outgrow the disorders.

Bronchopulmonary Dysplasia

Description

BPD, a serious, chronic lung disease, results after an insult to the neonate’s lungs. This may be a sequela to IRDS, a lung infection, or extreme prematurity. The lungs are stiff, obstructed, and hard to ventilate.

 ICD-9-CM Code 770.7

 ICD-10-CM Code P27.0 (Wilson-Mikity syndrome)

(P27.0 = P27.9 = 4 codes of specificity)

P27.1 (Bronchopulmonary dysplasia originating in the perinatal period)

P27.8 (Other chronic respiratory diseases originating in the perinatal period)

Symptoms and Signs

The infant experiences periods of dyspnea, including tachypnea, wheezing, cyanosis, nasal flaring, and sternal retractions. O₂ saturation decreases, as does the heart rate. The infant may experience coughing and difficulty feeding. These babies appear to be working very hard to breathe and they exhibit poor posture of the neck, shoulders, and upper body. Wet or crackling sounds are heard on auscultation of the lungs with a stethoscope.

Patient Screening

The infant will be hospitalized, usually in an NICU. The NICU staff observes the infant for signs of respiratory distress, and immediate intervention is instituted at the first signs of distress.

Etiology

BPD occurs in many premature infants after IRDS, mechanical ventilation with supplemental oxygen, and infection or pneumonia. The pressure and oxygen needed to maintain life-sustaining oxygen levels can damage soft and fragile lung tissue, causing overinflation or scarring.

Diagnosis

Observation of the infant reveals early respiratory distress. Radiographs of the chest are abnormal, indicating alveolar damage, either scarring or overinflation, sometimes described as a “ground glass” appearance. Arterial blood gases (ABGs) indicate a problem. Oxygen levels in the lungs may be low and carbon dioxide (CO₂) levels high.

Treatment

The goal of treatment is replacement of the damaged alveoli. Children grow new alveoli until about 8 years of age. Infants who have BPD need to grow new alveoli to replace those damaged by scarring. As this replacement occurs, the severity of the condition lessens. Supportive treatment includes supplemental oxygen and adequate nutritional support. The types of medications used include diuretics and bronchodilators, including beta₂-agonists, anticholinergic drugs, and theophylline. Antiinflammatory drugs such as steroids also may help.

Supplemental O₂ therapy may be needed for several weeks, occasionally for more than 1 year. This therapy usually is by nasal canula; however, if the infant has a tracheostomy, it may be delivered by a tracheostomy collar or by CPAP. O₂ saturation levels must be monitored with a pulse oximeter so they can be maintained at 90% or greater. The pulse oximeter also monitors heart rate. As the infant grows and matures, blood oxygen saturation levels may be maintained on room air, usually by the age of 1 year.

Diuretics help to reduce fluid accumulation in the lungs and reduce the incidence of pulmonary hypertension and right-sided heart failure. Bronchodilators are administered to reverse the narrowing of the bronchi resulting from inflammation or bronchospasm, thus allowing more oxygen to reach the lung tissue. These drugs may be administered orally as syrups or by aerosol inhalation. The antiinflammatory drugs help to prevent the inflammatory process from becoming severe.

Adequate nutrition is needed for the infant’s growth and to meet the increased caloric demand resulting from difficult breathing. High-calorie formulas are used. The infant must be held with the head raised slightly and the formula given frequently in small amounts to prevent gastroesophageal reflux disease (GERD). Some infants are given medications to prevent GERD and other medications, such as antacids or histamine-2 blockers, to reduce gastric acid.

Prognosis

Prognosis is good with early and aggressive intervention, prudent monitoring, and maintenance of adequate oxygen saturation levels and heart rate. Resolution of the condition is slow, and improvement is gradual. Complications include pulmonary edema and hypertension, right-sided heart failure (cor pulmonale), respiratory infections, apnea, tracheomalacia, asthma, and gastrointestinal (GI) reflux and aspiration. These children are particularly susceptible to respiratory infections such as bronchiolitis due to the respiratory syncytial virus (RSV). They may experience poor growth or delayed development. Many of these children outgrow the condition, but others may be susceptible to respiratory distress for life. Apneic periods and low oxygen saturation levels for an extended period of time may cause hypoxia to the brain, which may result in developmental deficits. Some infants may not survive.

Prevention

There is currently no way to prevent BPD; however, early weaning from mechanical respiratory support may reduce its incidence. Early and aggressive intervention and treatment may prevent complications and permanent conditions, even death.

Patient Teaching

Help parents find community support groups and agencies to assist with emotional and financial stressors. The parents should receive emotional support because this condition usually requires prolonged or frequent hospitalizations. Parents should be encouraged to become as involved as possible in the care of their infant, helping them to become familiar with the infant’s health care needs and promoting bonding with the infant.

Retinopathy of Prematurity

Description

ROP, or retrolental fibroplasia, is an abnormal growth of the blood vessels in the retinas of the infant’s eyes. The condition occurs in the eyes of premature infants.

 ICD-9-CM Code 362.21

 ICD-10-CM Code H35.179 (Retrolental fibroplasia, unspecified eye)

(H135.171-H135.179 = 4 codes of specificity)

Symptoms and Signs

ROP occurs most often in infants born before 28 weeks of gestation. There are no visible symptoms. Screening examinations are performed routinely on premature infants weighing less than 1500 g or at a gestational age of less than 30 weeks. The entire retina is visualized to determine the stages of development of the blood vessels supplying it. These examinations first are performed when the infant is 4 to 6 weeks old (Figure 2-7).

Patient Screening

The infant will be hospitalized, usually in an NICU. An ophthalmologist performs routine examinations of the retina. If the infant has been dismissed from the hospital and later exhibits signs of complications, an immediate appointment or examination should be arranged.

Etiology

The vascularization of the retina begins at the back central part of the eye, as vessels grow out toward the edges. The blood vessels to the retina do not begin development until about the 28th week of gestation. In premature infants, this vascularization is incomplete. Regardless of gestational age at birth, most ROP originates at 34 to 40 weeks after conception.

No specific risk factors for the development of ROP have been identified. Therefore, there is a group of risk factors that contribute to it. The more premature and the lower the birth weight of the infant, the greater is the risk of developing ROP. High supplemental oxygen concentrations are responsible for many incidents of ROP. Therefore, close monitoring of oxygen saturation levels and appropriate adjustment and titration of oxygen concentration levels to the infant reduce the risk. Certain drugs, such as surfactant and indomethacin, administered to the neonate for treatment of immature lungs, as well as PDA, may increase the risk for the premature infant. Recently, intense artificial lighting in the nursery or crib has been considered a risk factor. Other risk factors cited include seizures, mechanical ventilation, anemia, blood transfusions, and multiple spells of apnea and bradycardia.

Diagnosis

Diagnosis is made by an ophthalmologist using an indirect ophthalmoscope and scleral depression to visualize the retina. The lens and iris also are examined at this time.

Treatment

Most mild forms of ROP resolve without treatment. Laser treatment to the area anterior to the vascular shunt eliminates abnormal vessels before they deposit enough scar tissue to cause retinal detachment. Severe cases may require other procedures.

Prognosis

As previously mentioned, mild forms of this condition may resolve by themselves. Laser surgery may be required in more serious cases. Blindness may result from serious damage. ROP that has resolved can have later complications. These include crossed or wandering eyes (strabismus), “lazy eye” (amblyopia), nearsightedness (myopia), glaucoma, and late-onset retinal detachment. Many of these children may require corrective glasses. Children who have been diagnosed with some retinal damage in the neonatal period require follow-up monitoring up to the toddler years or later if problems are detected. A partially or completely detached retina may occur in the most serious cases. Prompt intervention may result in repair of the detachment and prevention of blindness.

Prevention

There is no way to prevent ROP in the premature infant. Close monitoring and titration of oxygen concentrations have reduced the incidence of the condition. NICUs now protect premature infants’ eyes from excessive exposure to artificial lighting. Attempts are made to avoid exposing premature infants to stress factors. Screening examinations, staging (determining extent of vascular damage), and appropriate intervention help to reduce the severity of the condition and prevent blindness.

Patient Teaching

Parents should be told of the risk for this condition in the premature infant. Give them printed material about the condition and help them to contact support groups in the community. Encourage follow-up eye examinations for infants as prescribed by the ophthalmologist.

Necrotizing Enterocolitis

Description

Necrotizing enterocolitis (NEC) is an acute inflammatory process caused by ischemic necrosis of the mucosal lining of the small intestine, large intestine, or both. It is a condition of premature infants or sick neonates that develops after birth, when the fragile intestinal tract of the premature or compromised newborn becomes active.

 ICD-9-CM Code 777.5

 ICD-10-CM Code P77.9 (Enterocolitis, necrotizing, newborn)

(P77.1, Stage I; P77.2, Stage II; P77.3, Stage III = 4 codes of specificity)

Symptoms and Signs

Feeding intolerance, abdominal distention, bile-colored emesis, diarrhea, blood in the stool, decreased or absent bowel sounds, lethargy, and body temperature instability a few days after birth are some of the initial symptoms exhibited by the preterm or low-weight infant. The state of well-being degrades as these infants experience respiratory problems related to brief apneic periods, reduced urine output, hyperbilirubinemia, and erythema. The abdomen is tender to palpation.

Patient Screening

The infant will be hospitalized, usually in an NICU. The NICU staff observes the infant for signs of NEC, and the neonatologist is notified of any signs of distress so immediate intervention can be instituted.

Etiology

The etiology of NEC is unknown; however, it is thought to be a breakdown in normal defense systems of the GI tract, allowing the normal flora of the GI tract to invade the intestinal mucosa. This can happen when blood is shunted away from the GI tract, resulting in convulsive vasoconstriction of the mesenteric vessels and diminished blood supply, interfering with the normal production of protective mucus.

In addition to prematurity, factors that may predispose infants to NEC include hypovolemia, sepsis, umbilical catheters, exchange transfusions, and IRDS. Another factor is oral feeding of high-calorie concentrated formula.

Diagnosis

Observation of changes in the infant’s feeding patterns or activity level, impaired body temperature maintenance, and respiratory difficulties, along with abdominal distention and tenderness, call for further investigation. Complete blood count (CBC) indicates an elevated white blood cell (WBC) count, and guaiac test results of stool specimens for occult blood are positive. Blood and stool cultures are performed and may confirm the presence of bacteria. Radiographs of the intestine confirm the condition.

Treatment

Aggressive and immediate intervention is necessary if the infant is to survive. Feedings are stopped, making the infant’s status NPO (nothing by mouth). A small tube is inserted into the stomach by way of the nose or mouth for decompression. Fluids are administered intravenously, as are antibiotics. Respiratory status and pH are monitored by ABGs. The infant’s weight, intake, and output are monitored closely, and fluid and electrolyte balance is maintained. Abdominal distention is monitored through frequent measurements of the abdomen by a tape measure. Radiographic monitoring of the intestinal tract also is performed. Complications of intestinal perforation or peritonitis require surgical intervention with removal of the necrotic tissue. When necrosis is extensive, ileostomy or colostomy may be necessary until the infant grows, and closure with anastomosis can be performed.

Prognosis

Without immediate and aggressive intervention, many of these babies will die. NEC is a serious complication of prematurity, and some babies die even with aggressive treatment. Resection of a portion of the bowel can lead to an obstruction of the bowel or to malabsorption syndrome. Perforation can lead to sepsis and death.

Prevention

Most of these babies are still in the hospital when NEC develops. Prudent nursing observations and reporting of any symptoms of NEC are essential. Because the infection can be spread from infant to infant, meticulous hand-washing techniques must be followed. Breast milk appears to offer some protection from this condition. An awareness of the high-risk infant is fundamental in the prevention and early intervention of this disease.

Patient Teaching

Parents will require emotional support along with information about the condition. Meticulous hand-washing techniques should be reviewed, and the dangers of infection should be explained to the parents.

Genetic Syndromes and Conditions

Robinow Syndrome

Description

Robinow syndrome is a condition of small stature and related incidence of interorbital distance, bulging (bossing) forehead, depressed nasal bridge, malaligned teeth, and short limbs. Other manifestations of the syndrome may be present.

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