Preparation

Before approaching the mother and infant, the mother’s and infant’s medical and nursing records should be checked. Relevant items are listed in Box 29-2.

Introduction to the Mother

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 at this stage to inquire whether there are any problems with feeding or any other worries about the infant. Before starting the examination the health care professional must observe 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 not important. What is important is that the entire body is examined at some stage. If the newborn is quiet, one may well take the opportunity to listen to the heart and examine the eyes directly. It is often convenient to make general observations of the newborn’s appearance, posture, and movements while undressing him or her, then to conduct the examination from head to foot, to then remove the diaper to examine the genital region, femoral pulses and hips, and finally to pick the newborn up and turn him or her over to be prone and examine the back and spine and assess tone in the prone position (Figure 29-1). A checklist is helpful to record the findings of the examination and to ensure that nothing has been omitted. For example, in the United Kingdom, the Newborn and Infant Physical Examination Program requires a specific checklist to be completed and inserted in the infant’s personal child health record. It also has defined goals, target conditions (hips, eyes, heart, and testes), and competency standards.

Measurements

The infant’s birth weight, gender, and gestational age should be noted. The 10th to 90th percentile for weight at 40 weeks’ gestation for a male infant is 2.8 to 4.0 kg (mean, 3.3 kg) and for a female infant is 2.7 to 3.9 kg (mean, 3.2 kg; see Appendix B). The birth weight percentile should be ascertained from the gestation-specific growth chart. 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 5 days of life up to a maximum of 10% of birth weight.

The head circumference should be measured with a disposable tape measure 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 to 90th percentile is 33 to 36 cm (boys) and 32 to 35 cm (girls) at 40 weeks.

The infant’s length (47 to 52 cm at 40 weeks) is measured routinely in the United States. Because the hips and lower legs need to be held extended by an assistant, the length is rarely measured accurately enough to identify short stature or serve as a reliable reference value when measured routinely.²⁶ 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 they have more than 5 g of reduced hemoglobin per 100 mL of blood, even though they are adequately oxygenated. Peripheral cyanosis confined to the hands and feet is common during the first day of life and is of no clinical significance.

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 is often more difficult to recognize in the immediate neonatal period than in later life, but other abnormalities, such as the flat occiput, hypotonia, bilateral single palmar creases, and a pronounced sandal gap (an abnormal skin crease between the first two toes), are helpful additional signs. In practice, the parents usually need to be informed of the diagnosis 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 pediatrician or clinical geneticist (see Chapter 31).

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

Skin

Inspect the skin for color, texture, rashes, and birthmarks. The skin of a Caucasian newborn looks reddish pink. Skin may seem pale in the first few days in African or Indian infants compared to parental skin color. 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 polycythemia or anemia is suggested, the hemoglobin concentration or hematocrit should be checked. 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. Thereafter, management is according to national guidelines. Traumatic cyanosis is blue discoloration of the skin, often with petechiae. It 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. However, the tongue remains pink.

Capillary hemangiomas (stork bites) are pink macules appearing on the upper eyelids, the mid forehead, and the nape of the neck from distention of dermal capillaries. Those on the eyelids and forehead fade during the first year, whereas those on the neck become covered with hair.

Port-wine stains (nevus flammeus) are caused by a vascular malformation of capillaries in the dermis. They are usually present at birth. When these lesions are disfiguring, their appearance can be improved using laser therapy. Port-wine stains affecting the ophthalmic distribution of the trigeminal nerve may be associated (in about 10%) with intracranial vascular anomalies (Sturge-Weber syndrome). Severe lesions on the limbs are associated with bone hypertrophy (Klippel-Trénaunay syndrome). Port-wine stains must be differentiated from strawberry nevi (cavernous hemangiomas), which are not present at birth but appear during the first 1 or 2 months of life.

Neonatal urticaria (erythema toxicum) is a common rash that usually starts on the second or third day of life. There are white pinpoint papules at the center of an erythematous base. Eosinophils are present on microscopy. The lesions migrate to different sites (see Chapter 102), and the rash resolves around the fifth day. Neonatal pustular melanosis is present from birth and contains neutrophils and is common in African-American infants. The top of the pustule is readily removed on wiping, revealing denuded skin, and may easily be mistaken for staphylococcal infection. Affected lesions become hyperpigmented and take several months to fade.

Milia describe 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 and do not need any treatment.

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.

Café au lait spots are common, but more than three may indicate an underlying disorder.

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 occur most often in African-American 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.

Head

The shape of the head should be noted. It may be asymmetric from the infant’s intrauterine position or molded from having to squeeze through the birth canal during delivery. Newborns who have been in the breech position in utero often have a prominent occipital shelf. After elective cesarean birth 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 is also a late sign of meningitis. After delivery, the sagittal suture is often separated, and the coronal sutures are overriding. The posterior fontanelle is often open, but small.

A caput succedaneum is bruising and edema of the presenting part of the head. It extends beyond the margins of the skull bones. A cephalhematoma is caused by bleeding between the periosteum and the skull bone. It is confined within the margins of the skull sutures and usually affects the parietal bone. 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 pitting edema of the scalp and anterior displacement of the ears. Early recognition and treatment is paramount because it may progress to hypovolemic shock. Bruising and abrasions after forceps deliveries, from scalp electrodes, or from fetal blood sampling are relatively common (see Chapter 30).

In craniosynostosis, there 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 may restrict brain growth, surgery may be required to avoid neurologic impairment and to improve cosmetic outcome.

Eyes

The eyes should be checked both by inspection and with an ophthalmoscope. The size, slant, and position of the eyes should be noted. A coloboma is a defect in the iris, resulting in a keyhole-shaped pupil. It may be associated with a defect in the retina. It may be an isolated abnormality or part of the CHARGE syndrome (coloboma, heart disease, atresia choanae, restriction of growth or development, genitourinary tract abnormality, ear anomalies). The red reflex should be elicited using an ophthalmoscope held about 6 to 8 inches from the infant’s eyes and focused on the pupil. During this part of the examination the room needs to be darkened. The eyes will usually open 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 mother’s shoulder. If the infant is asleep, the eyelids can be gently opened, although this is often made more difficult by the swelling of the eyelids, which is common 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. If the red reflex is abnormal, an ophthalmologist should be consulted urgently. Congenital cataract is the most common form of preventable childhood blindness. A white pupillary reflex (leukocoria) is an important presentation of retinoblastoma. In dark-skinned infants the reflex is often more yellow than red. 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.

Swelling of the eyelids is common in newborns and resolves during the first few days of life. Subconjunctival hemorrhages are common. They occur during delivery and resolve in 1 to 2 weeks. There may also be a mucoid discharge affecting the eyes, often called a “sticky eye,” 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 sterile 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 most likely, but is rare in developed countries. In the United States, all infants are given eye prophylaxis against gonococcal conjunctivitis. Chlamydia trachomatis is rare on the first day, usually presenting on days 5 to 14 of life.

Ears

The shape, size, and position of the ears are checked. Low-set ears are positioned so that the top of the pinna falls below a line drawn from the outer canthus of the eye at right angles to the face. 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 infants warrant their hearing checked with the newborn hearing screen.⁴³ They are sometimes associated with other dysmorphic features, a family history of deafness, maternal history of gestational diabetes, and increased risk for renal anomalies. When a preauricular tag is associated with other abnormalities or risk factors, a renal ultrasound is recommended.⁵⁴ The need for a renal ultrasound examination for an isolated preauricular tag has been questioned; a meta-analysis showed similar risk of renal tract anomalies to that of the general population.³⁴ Congenital ear deformities, in which there is normal development of the ear cartilage but abnormal architecture, may resolve spontaneously, but in some of these patients surgery is performed. Splinting of the ears in the early neonatal period has been recommended to avoid the need for surgery and improve cosmetic appearance.⁵²

Mouth and Palate

The mouth is observed for size, position, and asymmetry. The palate must be inspected, including posteriorly, to exclude a posterior cleft palate. It should also be palpated to detect an indentation of the posterior palate from a submucous cleft or a posterior cleft palate. 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 posterior cleft palate (Pierre Robin sequence) and may cause upper airway obstruction and feeding difficulties.

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. The respiratory rate should be less than 60 breaths per minute without chest retraction, flaring of the alae nasi, or grunting (i.e., no signs of respiratory distress). If the breathing is normal, it is extremely 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.

Heart

The normal heart rate is 110 to 150 beats per minute in term infants but can drop to 85 beats per minute during sleep. The heart sounds should be loudest on the left side of the chest. Heart murmurs can be heard in about 0.6% of infants at the routine examination of the newborn.¹ Most are innocent and originate from the acute angle at the pulmonary artery bifurcation or are from a patent ductus arteriosus or tricuspid regurgitation.⁵ The problem is to differentiate innocent murmurs from those caused by significant heart lesions. Clinical features may serve as a guide. Features of innocent and significant murmurs are given in Box 29-3. These clinical criteria can help residents,²⁰ general pediatricians,^14,27 and pediatric cardiologists⁴⁷ to identify significant heart lesions.

The usefulness of electrocardiograms and chest radiographs in helping to distinguish innocent from significant murmurs is controversial. The neonatal electrocardiogram and chest radiograph are difficult to interpret, and these tests have rarely been found to change decisions based on the clinical examination.47,49 Many centers have stopped performing them under these circumstances.

If a heart murmur is thought to be significant or cannot confidently be diagnosed as innocent, the infant should be referred directly for echocardiography. The management of infants with an innocent murmur depends on the availability of echocardiography. If echocardiography is readily available, it can be performed directly and provides parents with a definitive diagnosis without delay. If echocardiography is not readily available, a follow-up medical examination should be arranged soon after discharge and the parents warned to seek medical assistance if their infant becomes symptomatic with poor feeding, labored breathing, or cyanosis.

Most innocent murmurs disappear in the first year of life, most in the first 3 months. However, any mention of a heart murmur can create considerable parental anxiety, which sometimes continues for years. Attention must be paid to this to prevent parents from continuing to worry about their child’s heart even after the murmur has disappeared.⁵⁷

Abdomen

Observe for abdominal distention, asymmetry, and signs of umbilical inflammation. For abdominal palpation, the infant must be relaxed. The abdomen is palpated to identify any masses. The liver is normally palpable 1 to 2 cm below the costal margin. The spleen tip and left kidney are sometimes palpable; assess for enlargement. If palpation of the abdomen detects abnormally large renal masses or an enlarged bladder in a male infant, ultrasonography is required urgently to identify urinary outflow obstruction. Most cases of urinary outflow obstruction are now detected on prenatal ultrasound screening, as are other major abnormalities of the kidneys and urinary tract. Siblings of children with vesicoureteric reflux should be screened for this condition because up to 40% are also affected.⁴⁵ The American Urological Association has published clinical practice guidelines for screening siblings.⁴⁶

Observe for a hernia in the inguinal canal. Umbilical hernias are common, especially in African-American infants. No treatment is indicated because they usually resolve within the first few years of life. The incidence of inguinal hernias is approximately 3% to 5% in term infants and 13% in infants born at less than 33 weeks of gestational age. Inguinal hernias in both term and preterm infants are commonly repaired shortly after diagnosis to avoid incarceration of the hernia. Given the lack of definitive data, optimal timing for repair of inguinal hernias in infants remains debatable. Early repair of inguinal hernias in preterm infants must be further balanced against the risk of postoperative apnea after general anesthesia.⁵³

Single umbilical artery occurs in about 0.3% of newborns. It is associated with an increased risk for chromosomal abnormalities and congenital malformations, particularly of the genitourinary system.21,33 A single umbilical artery was associated with asymptomatic renal anomalies in 7% in one series.⁹ The yield is low from ultrasound screening of the kidneys and urinary tract when this is an isolated finding,^15,51 and most renal abnormalities identified are transient or mild. The yield is further reduced by routine prenatal ultrasound screening for congenital anomalies of the kidneys and urinary tract. It is probably best reserved for those who also have other anomalies on physical examination.

Femoral Pulses

Femoral pulses are palpated when the infant is quiet. Pulse pressure is reduced if there is coarctation of the aorta. If coarctation is suggested clinically, further evidence can be obtained by comparing the blood pressure in the arms and legs. A difference of more than 20 mm Hg is significant, and immediate treatment is indicated. Pulse pressure is increased with a patent ductus arteriosus.

Genitalia

In boys, the penis is checked for length and the position of the urethral orifice. The presence of testes in the scrotum is confirmed. The penis may appear to be short but may be buried in suprapubic fat. A penis less than 1 cm long is a micropenis suggesting congenital hypopituitarism. In hypospadias, the urethral meatus is in an abnormal position, usually on or adjacent to the glans penis, but may be on the penile shaft or perineum. The foreskin is hooded, and chordee, causing ventral curvature of the shaft of the penis, may be present. Glandular hypospadias without chordee may not require treatment, but more severe forms require corrective surgery, and a specialist opinion should be sought. Circumcision should be withheld as the foreskin may be required at surgery.

The testis may feel enlarged on palpation; this is usually from a hydrocele, which can be confirmed on transillumination with a flashlight. Hydroceles are relatively common in boys and usually resolve spontaneously. An undescended testis has failed to descend from its embryologic position from the urogenital ridge on the posterior abdominal wall through the inguinal canal to the scrotum. Undescended testes may lie along the line of descent but may not have reached the scrotum or may be ectopic testes, which have deviated from the line of descent. At birth, about 4% of full-term male infants have an undescended testis; by 3 months, about 1% are still undescended, with little reduction thereafter. An undescended testis should be reviewed at about 6 weeks of age. If still undescended, referral to a pediatric surgeon or urologist is indicated. If both testes are undescended, the infant should be reviewed by a senior clinician. It needs to be considered if the infant is a virilized female with congenital adrenal hyperplasia.

Neonatal testicular torsion usually occurs before birth. The testis is usually hard, black, and nontender and is rarely salvageable because it has usually already undergone infarction. A pediatric surgeon should be consulted urgently to decide if the testis can be salvaged. Many pediatric urologists will perform surgical fixation of the contralateral testis.

In girls, the clitoris and labia minora are prominent if the infant is preterm but are covered by the labia majora at full term. There may be a white vaginal discharge or small amount of bleeding from maternal hormone withdrawal. There may also be prolapse of a ring of vaginal mucosa. These lesions resolve spontaneously.

The anus is also inspected to check that its position, appearance, and tone are normal.

Passage of urine and meconium should be monitored and recorded and occur within 24 hours of birth in most term newborns.