Physical Examination of the Newborn

Introduction

Before examining the infant, a thorough chart review should be performed.

Maternal history

• Prior pregnancies, deliveries, and associated complications
• History of siblings with congenital defects or genetic disorders
• Complications during pregnancy:
  • Gestational diabetes 
  • Hypothyroidism
  • Eclampsia
• Social behaviors (tobacco use, illicit drug use, alcohol use)
• Preventative care during pregnancy:
  • Adherence to routine prenatal care
  • Tdap (tetanus, diphtheria, and pertussis) vaccine during pregnancy
  • Rhogam administration, if applicable
• Results of screening tests, including:
  • Genetic screenings
  • Glucose tolerance test (gestational diabetes screening)
  • HIV and other sexually transmitted infection (STI) screening
  • Urine drug screening

Infant’s birth history

• Gestational age
• Labor and delivery route and management:
  • Duration of labor
  • Duration of rupture of membranes
  • Route of delivery 
• Associated delivery complications:
  • Prolonged rupture of membranes or preterm labor
  • Group B streptococcal (GBS) status
  • Shoulder dystocia or other malpresentations
• APGAR scores (see table below)
  • Scoring system to evaluate newborns
  • Performed at 1 and 5 minutes of life
  • Low 5-minute APGAR scores correlate with increased cerebral palsy rates.

Vital Signs

The normal range for neonatal vital signs is unique.

• Temperature: 36.5℃–37.6℃ (97.7℉–99.5℉) 
• Heart rate: 120–160/min
• Respiratory rate: 36–60/min
• Pulse oximetry: > 90% 
• Blood pressure:
  • Must be measured with a properly fitting, neonatal-sized blood pressure cuff
  • Usually only measured if renal or cardiovascular conditions are suspected

During the perinatal period, growth parameters should be plotted daily on a growth chart.

• Length 
• Weight
  • Below the 10th percentile is small for gestational age (SGA).
  • Above the 90th percentile is large for gestational age (LGA).
• Head circumference
  • Below the 2nd percentile is considered microcephaly.
  • Above the 98th percentile is considered macrocephaly.

General Exam

Physical exam findings

Physical exam findings can help confirm the gestational date (Ballard score):

The infant’s reaction to the examination is useful in assessing:

• Alertness
• Reactivity
• Tone
• Vigor

Respiratory effort

Tachypnea may indicate:

• Pulmonary dysfunction
  • Transient tachypnea of the newborn
  • Meconium aspiration
  • Pulmonary hypertension
  • Pulmonary hypoplasia
• Congenital cardiac abnormalities (the 5 Ts)
  • Truncus arteriosus
  • Transposition of the great vessels (TGV)
  • Tricuspid valve atresia
  • Tetralogy of Fallot
  • Total anomalous pulmonary venous return

Skin exam

• Coloration indicates general infant health:
  • Pink with slight blue discoloration to hands and feet (acrocyanosis) is normal.
  • Cyanosis of the face or lips may represent poor oxygenation.
  • Pallor may indicate anemia.
  • Red, plethoric face may represent polycythemia.
  • Jaundice is indicative of elevated bilirubin.
• Careful examination to note birthmarks and other skin findings suggestive of genetic disorders
  • Benign birthmarks: 
    • Nevus simplex (“stork bite” or “angel’s kiss”): common salmon-colored patch, often on the forehead, eyelids, and back of the infant’s head
    • Congenital dermal melanocytosis (formerly known as “Mongolian spot”): dark-blue pigmentation, usually on the lower back
    • Erythema toxicum: transient 1–2 mm erythematous papules
  • Potentially concerning for genetic syndromes:
    • Cafe-au-lait spots: flat, pigmented lesions; > 6 spots concerning for neurofibromatosis
    • Ash-leaf spots: depigmented patches of skin common in tuberous sclerosis
    • Nevus flammeus (“port-wine stain”): dark-red, large, flat patch of vascular origin; can be associated with Sturge-Weber syndrome

Head and Neck

Face and scalp

• Note the overall size and shape of head, paying attention to any abnormalities associated with common genetic conditions.
• Note overall symmetry of the face.
• Lacerations or ecchymosis (cephalohematoma or caput succedaneum) may be present if the infant was born via vacuum or forceps-assisted vaginal delivery.

Fontanelles

Palpate the anterior (3–6 cm in diameter) and posterior (1–1.5 cm) fontanelles:

• Normal: soft and flat
• Sunken: may indicate dehydration
• Tense or bulging: may indicate increased intracranial pressure from meningitis or hydrocephalus

Sutures

Palpate for symmetry:

• Temporary asymmetry from passage through the birth canal is normal (sutures overlap to allow passage through the birth canal).
• Persistent asymmetry may indicate craniosynostosis (early closure of the sutures leading to an abnormal head shape).

Eyes

• Note the spacing, symmetry, and positioning of the eyes.
  • Hypotelorism and hypertelorism (narrowly and widely spaced eyes) are often associated with genetic disorders.
• Note the width and slant of palpebral fissures.
• Note the appearance of the sclera, conjunctive, iris, and reactivity/symmetry of the pupils.
• Check for red reflex.
  • Present in all infants
  • Absent in one or both eyes in: 
    • Retinoblastoma 
    • Congenital cataracts
    • Retinopathy of prematurity
• Look for purulent discharge from the tear duct.
  • Dacryostenosis: 
    • Blocked tear duct
    • Relieved by gentle massage with a warm towel
  • Ophthalmia neonatorum: 
    • Infection of the eye 
    • Associated with periocular swelling, conjunctival injection
    • May require antimicrobials

Ears

• Appearance
  • Note the spacing, symmetry, and positioning of the ears.
  • Low-set ears:
    • Associated with multiple genetic syndromes (e.g., Down’s syndrome, Edwards syndrome, Patau’s syndrome)
    • Helices below the imaginary plane that go through both of the child’s inner canthi
  • Note any other abnormalities: abnormal rotation, pits, or skin tags → should prompt evaluation of the kidneys
  • Tympanic membranes are generally not visualized during the newborn period.
• Function
  • Hearing tests must be performed on all infants before one month of age, preferentially prior to discharge.
  • The auditory brainstem response or the otoacoustic emissions test are utilized.

Mouth

• Look for natal teeth.
  • Should be removed as they are an aspiration risk
  • Often seen with Pierre-Robin sequence
• Note if the mandible and maxilla fit together correctly or if an under-/overbite is present.
• Examine the tongue and the extent of protrusion to look for ankyloglossia (“tongue-tie”).
• Visualize and palpate the palate for the presence or absence of a cleft palate.
  • Palpation is important because submucosal cleft palates are not visible.
  • Look for bifid or lateralized uvula as these may be a sign of cleft palate.

Nose

• Note the shape and symmetry of the nose. 
• Check for choanal atresia by occluding each nostril in turn and noting any difficulty in respiration.

Neck

• Observe the neck’s range of motion.
  • Congenital torticollis is a common finding due to birth trauma and is treated with physical therapy.
• Inspect and palpate the extended neck for symmetry, masses, and abnormalities.
  • Medial masses may indicate a thyroglossal duct cyst.
  • Lateral masses may indicate a branchial cleft cyst.
  • Neck webbing and cystic hygromas are associated with Down’s and Turner syndromes.

Chest

Clavicles

• Palpate for the presence of both clavicles.
• Palpate for the presence of clavicular fractures, which may occur from trauma during childbirth.

Chest

• Inspect for chest wall symmetry, spacing of the nipples, and any visible deformations.
  • Wide-set nipples may indicate Turner syndrome.
  • Accessory nipples may also be observed.
• Palpate for any developed breast tissue.
  • Some infants may have neonatal gynecomastia.
• Inspect for chest wall movement with each breath.
  • Look for paradoxical movement of chest segments indicating paralysis of the diaphragm or diaphragmatic hernia. 
  • Note the respiratory rate and heart rate (measured for a full minute).
  • Note if the infant’s cry is weak or vigorous.
  • Note if supplemental oxygen is being delivered and by what route.
• Note any signs of respiratory distress, including:
  • Tachypnea (> 60/min) or apnea
  • Accessory muscle use or retractions
  • Grunting or nasal flaring

Lungs

Auscultate the lung fields bilaterally.

• Ventilation will be impaired in respiratory infections (e.g., neonatal pneumonia) and obstructive processes (e.g., meconium aspiration).
• Abdominal sounds auscultated in the chest may indicate congenital diaphragmatic hernia.

Heart

• Feel the chest wall for a displaced point of maximal impulse (PMI).
• Auscultate heart sounds.
  • Healthy: single S1, split S2
  • Murmurs may indicate congenital cardiopathies: 
    • Physiologic murmurs due to persistent fetal circulation are common.
    • Pathological: any harsh-sounding murmur, diastolic murmur, grade 3 or higher murmur

Abdomen, Back, and Genitals

Abdomen

• General appearance: Examine for the presence of any noticeable deformities (omphalocele or gastroschisis) or abdominal distension.
• The umbilical cord stump: 
  • Should contain 2 arteries and 1 vein
  • Should be examined for bleeding or signs of infection
  • Should be examined for abdominal hernias, which must be noted and monitored for incarceration
• Palpate for the liver, which should be felt 2–3 cm below the right costal border. 
  • Spleen is difficult to palpate.
  • Kidneys may or may not be palpated.
• Auscultate for bowel sounds.

Back

Inspect and palpate for any congenital defects of the spine.

• Note the presence of any sacral dimples or “hair tufts,” which may indicate spina bifida occulta.
• Note any skin abnormalities or birthmarks.

Genitourinary

• Girls:
  • Verify the presence of the labia, urethral meatus, and vaginal opening.
    • Term female infants have prominent labia majora.
    • Preterm female infants have prominent labia minora.
    • A small amount of vaginal discharge and bleeding associated with withdrawal from maternal estrogens is normal.
  • Note any signs of virilization (fused labia, cliteromegaly).
  • Check for the presence of an imperforate hymen.
• Boys:
  • Penis
    • The foreskin is adhered to the glans. 
    • Should be allowed to come loose on its own within the span of the 1st few months
    • Note the location of the urethral meatus:
      • Epispadias: Urethra opens on the dorsal surface of the penis.
      • Hypospadias: Urethra opens ventrally on the glans or the shaft of the penis.
  • Scrotum
    • Look for “bifid scrotum” or signs of ambiguous genitalia.
    • Palpate for both testes.
      • Can sometimes be palpated in the inguinal canal 
      • Should descend within the first 6 months of life
    • Cremasteric reflex should be elicited.
    • Look for hydrocele or inguinal hernias.
• Both genders:
  • Verify patency of the anus.
  • Look for “sacral dimple.”
    • Any dimple that is < 2.5 cm from the anal verge and < 0.5 cm in diameter is considered normal.
    • All other sacral dimples should be investigated by ultrasound for concern for spinal malformations.

Extremities

Hips

• Inspect for any visible abnormalities.
• Use Ortolani and Barlow maneuvers to assess hip stability (may indicate developmental dysplasia of the hip).
• Palpate for the femoral pulses.

Hands and feet

• Inspect for any visible abnormalities, including:
  • Syndactyly or polydactyly
  • Overlapping fingers (may indicate Edwards syndrome)
  • A single palmar crease (may indicate Down’s syndrome)
• Look for talipes equinovarus (clubfoot).

Extremities

• Assess radial, posterior tibial, and dorsalis pedis pulses.
• Observe for spontaneous movement of the extremities.
  • Brachial plexus injury during birth can give rise to various palsies:
    • Erb’s palsy
      • Due to hyperextension of the C5 to C7 spinal nerve roots
      • Forearm is medially rotated, and the hand pronated (“waiter’s tip”)
    • Klumpke’s palsy
      • Injury to the distal portions of C8 and T1
      • Paralysis of the entire arm with areflexia

Neurologic Exam

• General
  • Tone:
    • Passive tone depends on the neonate’s maturity at birth.
    • Normal for an infant born at 24 weeks’ gestation to be more splayed out at rest
    • A full-term infant should flex all extremities at rest.
• Primitive reflexes:
  • Suck reflex: Touching the roof of the mouth stimulates sucking/swallowing.
  • Rooting reflex: Touching the side of the neonate’s face/cheek stimulates the neonate to turn their head to the ipsilateral side.
  • Palmar grasp: Stroking the palm should stimulate the neonate to grasp the hand.
  • Moro reflex:
    1. Lift the infant gently 2–3 inches by pulling the arms.
    2. Carefully release the infant’s hands.
    3. The infant should startle, which results in arm extension followed by arm flexion. 
  • Deep tendon reflexes can also be evaluated.
• Cranial nerve assessment

Clinical Relevance

The following conditions can be identified or suspected through physical examination of the newborn:

• Craniosynostosis: the premature fusion of one or more cranial sutures, usually classified as simple or complex. Premature suture fusion can cause abnormalities in skull and brain growth. 
• Meningitis: inflammation of the leptomeninges due to an infectious agent. A bulging anterior fontanelle can be a sign of neuroinfection in neonates. Infection can be suspected if other clinical signs are present, such as temperature, tachycardia, and poor feeding.
• Cleft lip and palate: a congenital defect of the lip and usually alveolus that may involve the palate. Cleft palate may also occur independently of cleft lip. Both occur when the facial structures of a fetus fail to fuse properly.
• CHARGE syndrome: a rare genetic disorder in children affecting almost all body systems due to impaired gene expression. CHARGE is an abbreviation of coloboma, heart defects, atresia choanae, growth retardation, genetic abnormalities, and ear abnormalities. Coloboma is a distinguishing clinical finding seen in children with CHARGE syndrome.
• Thyroglossal duct cyst: most common congenital cyst found in the midline when palpating a neonate’s neck. Thyroglossal duct cyst forms in the remnant of the thyroglossal tract.
• Branchial cleft remnants: cysts, sinuses, or skin tags along the anterior border of the sternocleidomastoid muscle or near the angle of the mandible, lined primarily with stratified squamous epithelium. Cysts may also contain lymphoid follicles.
• Neonatal gynecomastia: breast hypertrophy due to androgens and estrogens secreted by the mother that enter the fetal circulation.
• Neonatal pneumonia: inflammation of the pulmonary parenchyma due to infectious agents during the neonatal period. 
• Meconium aspiration syndrome: respiratory distress in newborns born with meconium-stained amniotic fluid.  
• Truncus arteriosus (TA): congenital cardiopathy characterized by the emergence of the pulmonary artery and aorta from a common trunk that overrides a ventricular septal defect (VSD).
• Transposition of the great vessels: congenital cyanotic cardiopathy characterized by the “switching” of the great arteries. There are 2 presentations: the dextro- and levo-looped forms. A pansystolic murmur can be heard in cases with a VSD. Transposition of the great vessels can present with a systolic murmur, sometimes accompanied by a trill.
• Tricuspid valve atresia (TVA): cyanotic congenital cardiopathy that consists of the lack of development of the tricuspid AV valve that presents with a holosystolic murmur.
• Tetralogy of Fallot: cyanotic congenital cardiopathy with 4 characteristic findings: overriding aorta, ventricular septal defect, pulmonary stenosis, and right ventricular hypertrophy. Tetralogy of Fallot presents with a harsh, loud systolic murmur.
• Total anomalous pulmonary venous return: rare cyanotic congenital cardiopathy that consists of the drainage of the pulmonary veins to other anatomical sites other than the left atrium. Total anomalous pulmonary venous return presents with a soft mid-systolic murmur.
• Omphalocele: an anterior abdominal wall defect in which the intestines are covered by peritoneum and amniotic membranes.
• Gastroschisis: a free (uncovered) protrusion of the intestine and/or other abdominal content through a defect located at the detachment of the umbilicus and normal skin.
• Down’s syndrome: a genetic syndrome caused by trisomy of chromosome 21; the most frequent cause of intellectual disabilities.
• Edwards syndrome: a genetic syndrome caused by trisomy of chromosome 18 with several characteristic findings, including a narrow skull, cleft palate and lip, cardiac murmurs, clenched overlapping fingers, and omphalocele. 
• Patau’s syndrome: a genetic syndrome caused by the presence of the trisomy of chromosome 13. Some of the syndrome’s characteristic findings overlap with those found in Edwards syndrome.
• Developmental dysplasia of the hip: a group of clinical findings in which the head of the femur slips out of the acetabulum, causing abnormalities in the growth and development of the hip joint.