Physical Examination of the Newborn

Preparation

Before approaching the mother and infant, the mother's and infant's medical and nursing records should be reviewed. Relevant items are listed in Box 28.2 .

Introduction to the Parents

The health care provider should introduce himself or herself to the mother or, preferably, to both parents and explain the purpose of the examination. It is usually best to start by asking if there are any problems with feeding or any other worries about the infant. Before starting the examination the health care professional must conduct hand hygiene and ensure that the newborn can be examined in a warm, private area with good lighting.

Order of the Examination

The exact sequence in which the newborn is examined is flexible so long as the entire body is examined at some stage. If the newborn is quiet, take the opportunity to listen to the heart and examine the eyes. It is often convenient to start by making general observations of the newborn's appearance, posture, and movements while undressing him; then to conduct the examination from head to foot; then to remove the diaper to examine the genital region, femoral pulses, and hips; and finally to pick him up and turn him over to examine the back and spine and assess tone in the prone position ( Fig. 28.1 ).

Measurements

The infant's growth parameters and gestational age should be noted. The birth weight percentile should be ascertained from the gestation-specific growth chart, using growth charts from the World Health Organization (WHO) or Centers for Disease Control and Prevention (CDC) ( www.CDC.gov/growthcharts ). The 10th-90th percentile for weight at 40 weeks’ gestation for a female is 2.7-3.85 kg (mean, 3.2 kg) and male is 2.8-4.0 kg (mean, 3.3 kg). If the infant's gestational age is uncertain, it can be determined (±2 weeks’ gestational age) using a standardized scoring scheme. Infants often lose weight over the first few days of life, but a loss of >10% of birth weight is a cause for concern.

The head circumference should be measured with a disposable tape measurer at its maximal occipital frontal circumference and plotted on a gestation-specific growth chart to identify microcephaly or macrocephaly and to serve as a reference for future measurements. However, the measurement can change markedly in the first few days because of molding of the head during delivery. The 10th-90th percentile is 32-35 cm for females and 33-36 cm for males at 40 weeks.

The infant's length may also be recorded, but because the hips and lower legs need to be held extended, unless a length board is used, the length is rarely measured accurately enough to identify short stature or serve as a reliable reference value when measured routinely. The length of the arms and legs relative to that of the trunk is observed, although short limbs from skeletal dysplasias can be difficult to appreciate in the immediate newborn period.

General Observation of Appearance, Posture, and Movements

Much valuable information can be gleaned by simply observing the newborn. Central cyanosis is best observed on the tongue. If present, it requires urgent investigation. If there is any doubt, the newborn's oxygen saturation should be checked with a pulse oximeter. Polycythemic infants (central hematocrit >65%) sometimes appear cyanotic because of the high concentration of reduced hemoglobin in their blood, even though they are adequately oxygenated. Acrocyanosis, peripheral cyanosis confined to the hands and feet, is common during the first day of life and is of no clinical significance. A blue discoloration of the skin, often with petechiae, can affect the presenting part in a face or breech presentation or the head and neck if the umbilical cord was wrapped around the infant's neck. This can be distinguished from central cyanosis because the tongue remains pink.

Syndromes

The facial appearance is observed. If the face is abnormal, does the newborn have a syndrome? Down syndrome is by far the most common syndrome. The characteristic facies are often difficult to recognize in the immediate neonatal period, especially in preterm infants, but other abnormalities, such as hypotonia, flat occiput, bilateral single palmar creases, and a pronounced sandal gap (an abnormal spacing between the first two toes), can be appreciated at birth. In some cases, the parents will need to be informed of the concern before the results of the chromosome analysis are available.

Many hundreds of syndromes have been described. When the diagnosis is uncertain, a book or computer database should be consulted and advice sought from a clinical geneticist (see Chapter 30 ).

Assess the face for asymmetry, particularly when crying, to identify facial palsy and asymmetric crying facies. In peripheral facial palsy, babies are unable to wrinkle their forehead or close their eye completely. Most are traumatic and resolve within a few weeks. Asymmetric crying facies is usually due to congenital absence of the depressor anguli oris muscle on one side of the mouth. These infants can wrinkle their foreheads and close their eyes; there is an association with congenital heart disease.

Skin

Inspect the skin for color, texture, rashes, and birthmarks. Cracked, peeling skin is common, especially in post-term infants. The infant may be plethoric from polycythemia or unduly pale from anemia or shock. If there is a concern for polycythemia or anemia, the hemoglobin concentration or hematocrit should be measured. Jaundice within the first 24 hours of birth, unless mild, is most likely to be hemolytic and requires urgent investigation and treatment. It may also be a feature of congenital infection. Manage according to guidelines.

The following newborn skin conditions are benign, self-limited, and do not need any treatment: Neonatal urticaria (erythema toxicum) is a common rash that usually starts on the second or third day of life. It consists of white pinpoint papules at the center of an erythematous base. Eosinophils are present on microscopy. The lesions migrate to different sites, and the rash resolves around the fifth day. Neonatal pustular melanosis is present from birth, contains neutrophils, and is more common in black infants. The top of the pustule is readily removed by wiping, revealing denuded skin, and may easily be mistaken for staphylococcal infection. The denuded skin becomes hyperpigmented and takes several months to fade.

Milia are benign white cysts that may be present on the nose and cheeks from retention of keratin and sebaceous material in the pilaceous follicles. Small white pearls may be visible along the midline of the palate (Epstein pearls). Cysts of the gums (epulis) and on the floor of the mouth (ranula) are mucus-retention cysts.

In harlequin color change, there is longitudinal reddening down one half of the body and a sharply demarcated blanching down the other side. This lasts for a few minutes. It is thought to be due to vasomotor instability.

Mongolian blue spots are blue-black macular discolorations at the base of the spine or on the buttocks. They occasionally also occur on the legs and other parts of the body. They are most common in black or Asian infants and fade slowly over the first few years of life. They are of no clinical significance but are occasionally misdiagnosed as bruises; their presence and distribution at birth should therefore be recorded.

Café au lait spots are common, but more than three may indicate an underlying disorder such as neurofibromatosis type 1 or McCune-Albright syndrome.

Several vascular anomalies can be present at birth, some of which may be of long-term significance. The classification system has changed recently to more accurately reflect two distinct pathologic groups; malformations (errors in vasculogenesis), which may be associated with other anomalies, for example, Sturge-Weber and Klippel-Trénaunay syndromes, and tumors (proliferating endothelium).

Vascular malformations are present at birth. The macular stain of infancy or nevus simplex, previously called “capillary hemangiomas” or “stork bites,” are pink macules caused by distention of dermal capillaries and seen on the upper eyelids, the mid forehead, or the nape of the neck. They occur in 40%-60% of infants and gradually fade during the first year, although those on the neck may persist but become covered with hair.

Port-wine stains or “nevus flammeus” are caused by a vascular malformation of capillaries in the dermis. They may be anywhere on the body, are usually unilateral or segmental, and do not cross the midline. The face is a common site, along the distribution of the branches of the trigeminal nerve. They do not fade but grow with the child and become darker. When these lesions are disfiguring, their appearance can be improved using laser therapy.

Vascular malformations may be associated with other anomalies. If the port-wine stain affects the ophthalmic distribution of the trigeminal nerve, it is associated with intracranial vascular anomalies (Sturge-Weber syndrome) in about 10% of cases and, therefore, the infant should be evaluated for glaucoma and brain lesions.

Klippel-Trénaunay syndrome is an uncommon vascular malformation associated with a vascular anomaly typically causing overgrowth of the lower extremities. Larger and more complex lesions can involve the capillaries, veins, arteries, or lymphatics and may require referral to an interdisciplinary vascular anomalies center.

The most common benign tumors of infancy are infantile hemangiomas (strawberry nevus). They are not usually visible at birth but become visible from proliferation of blood vessels in the first few weeks after birth, gradually increase in size until 3-15 months of age, and then slowly regress as they involute. If necessary, topical propranolol may be given to hasten their regression. If they cause airway compromise or gastrointestinal bleeding, they may require treatment with oral propranolol, sometimes combined with laser therapy. Diffuse liver hemangiomas can cause profound hypothyroidism and, therefore, thyroid function should be followed. Hemangiomas in the distribution of a beard can be associated with airway lesions.

Head

The shape of the head should be noted. It may be asymmetric from the infant's intrauterine position or molded from squeezing through the birth canal. Newborns who have been in the breech position in utero often have a prominent occipital shelf. After cesarean birth without labor the infant's head shape is round and symmetric. The fontanelle and sutures are palpated. The size of the anterior fontanelle is variable. If the fontanelle is tense when the newborn is not crying, this may be from elevated intracranial pressure, and cranial ultrasonography should be performed. A tense fontanelle can also be a sign of meningitis; therefore, a lumbar puncture should also be considered if concerns are raised by the history or physical exam. After delivery, the sagittal suture is often separated and the coronal sutures are overriding. The posterior fontanelle is often open but small. Bruising and abrasions after vacuum or forceps deliveries, from scalp electrodes, or from fetal blood sampling are relatively common (see Chapter 29 ). A caput succedaneum is bruising and edema of the presenting part of the head. It may extend beyond the margins of the skull bones. A cephalohematoma is caused by bleeding between the periosteum and the skull bone. It is confined within the margins of the skull sutures, usually overlying the parietal bone, and does not cross the midline. These conditions may take several weeks to resolve.

In subgaleal hemorrhage, there is bleeding between the galea aponeurosis and periosteum. Vacuum extraction and coagulopathy are risk factors. The head may have a boggy appearance with anterior displacement of the ears and a “wave sign” if fluid is pushed from one side of the head over to the other. Early recognition and treatment is paramount because of the potential for a large volume of blood loss causing hypovolemic shock.

Craniosynostosis is premature fusion of one or more of the cranial sutures, usually resulting in a markedly asymmetric skull with a palpable ridge along the suture line. It may be isolated, but if more than one suture is involved, it is often part of a syndrome (e.g., Crouzon or Apert syndrome). Because it can restrict brain growth, surgery may be required nonurgently to avoid neurologic impairment and to improve cosmetic outcome.

Eyes

The eyes should be checked both externally and with an ophthalmoscope. The size, slant, and position of the eyes should be noted. A coloboma is a defect in the normal tissue in or around the eye that can involve the lid, cornea, iris, retina, or optic disc. Defects internal to the pupil can only be diagnosed by ophthalmologic examination. It may be an isolated abnormality or part of the CHARGE syndrome ( c oloboma, h eart disease, a tresia choanae, r estriction of growth or development, g enitourinary tract abnormality, e ar anomalies). The red reflex should be elicited using an ophthalmoscope held about 8 inches from the infant's eyes and focused on the pupil. During this part of the examination the room may need to be darkened. The eyes will usually open if the infant is awake, if the infant's head is supported in the examiner's hand and raised to about 45 degrees, or if the infant is held over the parent's shoulder. If the infant is asleep, the eyelids can be gently opened, although this is often made more difficult by the application of ophthalmic antibiotic ointment and/or swelling of the eyelids, which is common in newborns and resolves during the first few days of life. The red retinal reflex can be seen if the lens is clear but not if it is opaque from a congenital cataract or enlarged and hazy from congenital glaucoma. In dark-skinned infants, the reflex is often more yellow than red. A white pupillary reflex (leukocoria) is an important presentation of retinoblastoma. If the red reflex is abnormal, an ophthalmologist should be consulted directly. Congenital cataract is the most common form of preventable childhood blindness. The American Academy of Pediatrics (AAP) recommends referral to an ophthalmologist for all infants with a family history of significant eye disease regardless of examination findings.

Subconjunctival hemorrhages are common. They occur during delivery and resolve in 1 to 2 weeks. There may also be a mucoid discharge from the eyes in the first few days of life, which resolves spontaneously. If more prolonged, it is often from a blocked or incompletely canalized nasolacrimal duct. The eyelids can be cleansed with clean water. This condition must be contrasted with the erythematous, swollen eyelids with purulent eye discharge seen in conjunctivitis. On the first day of life, gonococcal infection is the most likely etiology of conjunctivitis but is rare in high-income countries. In the United States and many other countries, all infants are given eye prophylaxis against gonococcal conjunctivitis. Conjunctivitis may also be caused by Chlamydia trachomatis , but this is rare on the first day, usually presenting on days 5-14 of life.

Ears

The shape, size, and position of the ears are checked. Normally placed ears are positioned so that the top third of the ear is level with a line drawn from the inner to the outer canthus of the eye. Low-set or abnormal ears are characteristic of a number of syndromes. Malformations of the ear may be associated with hearing loss. Skin tags anterior to the ear (preauricular tags) and accessory auricles should be removed by a plastic surgeon. Preauricular tags are usually isolated and benign, but they warrant arranging for a hearing screen if practicing in a setting where universal newborn hearing screens are not performed. Preauricular tags are sometimes associated with other dysmorphic features, renal anomalies, a family history of deafness, or a maternal history of gestational diabetes. When a preauricular tag is associated with other abnormalities or risk factors, a renal ultrasound is recommended. A renal ultrasound examination for an isolated preauricular tag or other minor ear anomaly is no longer recommended.

Congenital ear deformities, in which there is normal development of the ear cartilage but abnormal architecture, may resolve spontaneously, but splinting of the ears in the early neonatal period has been recommended to avoid the need for surgery and improve cosmetic appearance. In some of these patients, surgery is eventually performed.

Mouth and Palate

The mouth is observed for size, position, and symmetry. The palate must be inspected, including posteriorly, to exclude a cleft palate. The whole of the palate needs to be visualized, which may require a flashlight and depression of the tongue. If cleft lip and palate are recognized prenatally, the parents will be forewarned and counseled about the likely appearance and management. When diagnosed at birth, the parents will need to be reassured about the good cosmetic results after surgical repair. Before-and-after photographs of other children are often helpful. Assistance in establishing feeding may be required. The infant will need to be referred to a multidisciplinary craniofacial service.

Micrognathia describes a small mandible and may be associated with glossoptosis and a U-shaped, posterior cleft palate (Robin sequence), which may cause upper airway obstruction and feeding difficulties. It can be syndromic or nonsyndromic.

Neck

Redundant skin over the posterior neck together with a flat occiput is a feature of Down syndrome. A webbed neck is a feature of Turner syndrome, which may also be associated with lymphedema of the feet. A short, webbed neck may indicate abnormalities of the cervical spine (Klippel-Feil syndrome). Cystic hygromas are soft, fluctuant swellings usually in the posterior triangle that transilluminate.

Breathing and Chest

Breathing and chest wall movement are observed. Breathing should be normal, with no signs of respiratory distress (i.e., respiratory rate greater than 60 breaths per minute, retractions of accessory respiratory musculature, flaring of the alae nasi, or grunting). If the breathing is normal, it is rare for significant abnormalities to be detected on auscultation. If the infant has respiratory distress, further evaluation is required immediately. Normal term infants may have periodic breathing with pauses of up to 10 seconds between periods of regular breathing.

Breast enlargement can occur in newborns of either sex. A small amount of milk (“witch's milk”) may be discharged.