Chapter Contents
Introduction 247
Examination in the delivery room 248
Full routine examination 249
History and background knowledge 249
Introductions and general ‘gestalt’ inspection 249
Formal examination 249
Systematic review 250
Skin 250
Head and skull 251
Face 251
Ears 251
Nose 252
Eyes 252
Mouth 253
Neck 253
Chest and cardiorespiratory system 253
Abdomen 254
Genitalia 255
Spine 255
Upper limbs 256
Lower limbs 257
Hips 257
Neurological 258
Biochemical screening 259
Health education 259
Jaundice 259
Cot death prevention 259
Prevention of haemorrhagic disease of the newborn 259
Breastfeeding promotion 259
Sleeping 260
Safe transport in cars 260
Maternal depression 260
Gestational age 260
Physical characteristics 260
Introduction
A thorough physical examination of every neonate has long been accepted as good practice and forms a core item of the child health surveillance programme in many countries ( ; ). There are now agreed standards for the conduct of this examination, which forms part of the National Health Service screening programme in the UK (see Weblinks ). The Newborn and Infant Physical Examination (NIPE) programme has clearly defined goals, target conditions and competency standards. The four current target conditions are hips, eyes, heart and testes. The first detailed examination should take place within 72 hours of birth and the second at 6–8 weeks. The mother should have been given information about the NIPE programme during pregnancy, and consent should be obtained. Non-consent must be recorded and followed up, and notified to the appropriate child health information department.
The aims of the routine newborn examination are:
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to review any problems arising or suspected from antenatal screening, family history or the events of labour
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to ascertain whether the family have any worries about the baby and to try to address them
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to initiate appropriate treatment and arrange for advice and follow-up where indicated (e.g. hepatitis vaccination, phototherapy for jaundice, special teat for cleft palate)
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to screen for specific target conditions, currently developmental dysplasia of the hip (DDH), cataract, undescended testes and congenital heart disease
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to diagnose congenital malformations and common neonatal problems, and give advice about management
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to detect the occasional baby who is obviously ill and requires urgent treatment
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to collect baseline information about weight and head circumference, and to check that the baby has passed urine and meconium
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to identify parents who may have problems in caring for their baby because of substance abuse, mental health problems, learning difficulties or very poor housing and to alert the appropriate professional groups
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to begin to provide health education advice, e.g. regarding breastfeeding, cot death prevention, safe transport in cars.
For some babies, early diagnosis may make all the difference to their subsequent health; examples are congenital cataract and urethral valves. For others, reassurance about minor deviations from normal (birthmarks, syndactyly of the toes, extra digits) is all that is required. The slightest variation from what the family consider to be normal may produce the most intense distress and anxiety at a stage when the mother is emotionally very labile.
The yield of abnormal findings is surprisingly high, with up to 20% of healthy newborns being found to have one minor anomaly ( ). Most of these are of no importance, although the number of such abnormalities matters ( Table 14.1 ). Only 0.5% of babies have three such anomalies, and the risk of an accompanying major malformation then rises from 3% (with one minor anomaly) to 20%. Unfortunately, the examination is not a reliable screen for several important conditions such as DDH, cataract and congenital heart disease (see below).
Abnormalities that do not matter when isolated (three or more such abnormalities do matter) |
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Abnormalities that might matter even when they are isolated |
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Who should examine the baby?
Babies should be examined by a trained practitioner who has the time to talk and listen to the mother. In the past, all neonatal examinations were carried out by paediatricians, usually junior paediatricians with some specific basic training. Generations of paediatric residents have learnt the range of normality by performing large numbers of ‘baby checks’, and they have the advantage of a full medical training and a direct chain of referral. Recently, advanced neonatal nurse practitioners and trained midwives have begun to undertake the examination, and mothers are usually very satisfied with the service they provide ( ; ). In a randomised trial conducted in south-east England ( ), mothers whose baby was examined by a midwife were more satisfied than the group whose baby was examined by a paediatric senior house officer (SHO), although the general level of satisfaction was very high. The reason why the midwives’ examination was preferred was that there was more provision of health education advice (related to feeding, sleeping and skin care). Once this was controlled for, the differences in satisfaction disappeared. The midwives took 5 minutes longer, on average, to conduct the examination than the SHOs. Randomisation only took place during the working day, and half of all babies born during the study period were excluded from randomisation because of problems such as maternal disease, low birthweight, operative delivery or a need for resuscitation at birth.
When should babies be examined?
Many babies are currently discharged home before 8 hours of age. The advice from the NIPE programme is that there is no optimal time to detect all abnormalities, and it is considered that the overall risk associated with babies going unscreened is greater than if babies are examined early. Hence, the conclusion is that all babies should be offered the examination before discharge even if this is at or before 6 hours. The logistics of delivering a high-quality screening examination on this timescale can be formidable in a busy maternity service, and a back-up arrangement such as a walk-in clinic or community liaison is essential to make sure that all babies are examined before 72 hours.
Examination in the delivery room
All babies should be checked soon after birth; this will generally be done by the midwife following uncomplicated full-term labour, but if the paediatrician has been called to the delivery she should make a quick appraisal of the infant after any necessary resuscitation. This examination is usually confined to ensuring that the infant looks well and that there are no major abnormalities requiring immediate attention or explanation to the parents such as hare lip/cleft palate, spina bifida, anal atresia or ambiguous genitalia. This is a most sensitive and important time for parents and they should be given the opportunity to be left alone with their baby as soon as possible. This check is not, and should not be, the full examination which forms the first NIPE screening examination.
Full routine examination
Mothers meticulously inspect their own babies, hence one of the most important functions of the examination is to answer any questions which the mother may raise. It follows that the examination should, if possible, always be done in her presence. The following general format is recommended:
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Check the maternal medical, obstetric and social history from the notes, the mother and the nursing staff.
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Introduce yourself to the mother with an explanation about what you are doing.
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Fully examine the baby.
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Give advice and information, arrange follow-up and provide reassurance where appropriate. When giving advice, remember that the neonatal examination is not a perfect screening tool.
History and background knowledge
Before approaching the mother and infant, read the baby notes to obtain basic information about the mother’s previous obstetric and medical history as well as the type of delivery and the baby’s condition at birth; note also the birthweight, gestational age and sex. If there are complicated medical or social problems it is helpful to discuss them with the nursing staff beforehand and also to check the mother’s notes for details.
It is useful to have a mental checklist of relevant background information to obtain before starting the examination. This should include:
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The baby’s sex.
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The baby’s birthweight and reputed gestational age and whether these are mutually compatible.
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The mother’s age and social background.
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Is there any chronic maternal disease? If so, what treatment is the mother receiving?
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Is there a history of recreational drug and/or alcohol use? Is the mother a smoker?
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Is there any possibly relevant family history?
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The outcome and dates of any previous pregnancies.
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Was the pregnancy normal? Were there any complications?
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What were the results of pregnancy screening tests, e.g. 20-week ultrasound scan?
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Were any special diagnostic procedures, e.g. amniocentesis, performed?
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Were there any signs of fetal compromise during labour?
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What drugs and/or anaesthesia were given during labour and delivery?
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How was the baby delivered?
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Was there a breech presentation after 36 weeks (an indication for a hip scan)?
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What was baby’s condition at birth (Apgar scores at 1 and 5 minutes, cord pH)?
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Was any resuscitation needed?
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How long before sustained respiration was established?
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Was the baby in the neonatal unit? If so, why?
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How is the mother planning to feed the baby, and how is the feeding going?
Introductions and general ‘gestalt’ inspection
The doctor should introduce herself and say what she has come for. To ask the baby’s name and record it helps to establish a good relationship. So many early worries are concerned with feeding that one should always enquire what method the mother is using and whether she is happy with it. Routine weighing and feed charts have been abandoned in most UK maternity units, but the incidence of readmission with hypernatraemic dehydration due to breast milk insufficiency has risen (Laing and Wong 2002). All babies lose weight after birth, 2–3% each day to a maximum of around 10%, but it is rare for a baby to lose more weight than this, or to remain more than 10% below birthweight after the 5th day ( ). If there is a current weight, then a quick calculation of weight lost or gained since birth should be made.
Enquire about the health of any previous children. There may have been previous stillbirths, infant deaths or adverse outcomes about which the mother may be extremely anxious. The examiner should also review and confirm any relevant items of background information gleaned from the notes. Always ask the mother whether she has any specific worries, when she is expecting to be discharged and what support she has at home. Knowledge of the father’s and mother’s occupation provides useful background information. By means of these preliminary pleasantries one can usually quickly establish a relationship and can gauge the level at which to discuss any problems. During these introductory minutes the examiner can try to make the mother and her partner (if present) feel like individuals, and can also do two other very important things:
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observe the mother’s attitude to her baby, and whether she is confident and happy or tense and withdrawn
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observe the baby, noting colour, facies, breathing pattern, posture and movements.
An enormous amount can be learned by these simple observations while continuing to chat to the mother. For recording purposes it is useful to have a checklist printed or stamped in the baby’s notes to serve as an aide-memoire. The examination must be appropriately documented; increasingly this involves a computerised record. The experienced observer uses ‘gestalt’ to assess the importance of minor dysmorphic features ( Table 14.1 ), subtle signs of illness, or atypical behaviour patterns.
Formal examination
The baby must be undressed down to the nappy for most of the examination time; it is impossible to examine a clothed baby properly. Most parts of the examination can be performed in any behavioural state, and the order in which this is done is largely a matter of personal preference, but working from top to toe down the front and vice versa up the back is as good as any other. Full advantage should be taken of any quiet or sleeping periods to feel the anterior fontanelle, look at the eyes, auscultate the heart and palpate the abdomen. It is wise to leave the hips until nearly the end of the examination, even though this item is arguably one of the most important items on the agenda and must be done with the infant quiet and relaxed, because the Ortolani–Barlow test often makes the baby cry. Throughout the whole examination one is at first consciously, later almost subconsciously, observing such things as posture, muscle tone, movements and reaction to stimuli so that finally there is very little need for a formal evaluation of the central nervous system unless suspicious signs have come to light. A suggested order for the examination is as follows; details of what one is looking for are given in the systematic review.
Order of examination
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Remove the baby’s clothes except the nappy.
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Feel the anterior fontanelle for tension (leave until later if the baby is crying!).
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Look at the face for colour or any peculiarities.
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Listen to the heart and estimate heart rate and respiratory rate. The lungs can also be auscultated but this is seldom informative.
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Palpate the abdomen.
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Return to the head and examine scalp and skull and measure head circumference and record it, together with the weight.
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Examine the eyes, ears, nose and mouth.
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Examine the neck, including the clavicles.
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Examine the arms, hands, legs and feet.
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Remove the nappy.
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Feel for the femoral pulses.
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Examine the genitalia and anus.
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Turn the baby to the prone position and examine the back and spine, and assess tone.
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Return the infant to the supine position and evaluate the central nervous system.
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Examine the hips.
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Make sure you have not omitted anything and check you have paid attention to any concerns expressed by the mother.
Systematic review
Skin
During the general examination the colour and texture of the skin should be noted as well as any birthmarks or rashes. Birthmarks are common in babies, and most are vascular or pigmentary lesions ( ). Many are normal variants, but some are of great importance. Sturge–Weber syndrome occurs in 10% of those who have a port wine stain involving the ophthalmic division of the trigeminal nerve, for example.
The frequency of café-au-lait spots varies tremendously and it is common to see one spot, although more than three are rare. Some have recommended that any Caucasian baby with more than three such spots, and any African baby with more than five, be followed for the development of multisystem disease ( ). Many other skin lesions are described in Chapter 32 , and some excellent illustrated textbooks are available ( ).
Skin colour
Healthy warm Caucasian babies should be reddish pink all over after the first few hours of life, but they can be covered with white cheesy vernix; this can also be stained a golden yellow in postmaturity or appear greenish if meconium has been passed before birth.
Cyanosis
Cyanosis is usually discernible when arterial blood is 80% saturated, but the ability to detect cyanosis varies between individuals and with different lighting conditions. Cyanosis can be difficult to evaluate in an infant who is very pale (anaemic or peripherally shut down) or racially pigmented. Plethoric infants (central packed-cell volume >65%) can appear cyanosed because they have more than 5 g of reduced haemoglobin per 100 ml even when adequately oxygenated. Peripheral cyanosis of the hands and feet and circumoral cyanosis (acrocyanosis) are common during the first 48 hours. It is essential to ascertain that cyanosis is not central by noting whether the tongue is blue. Traumatic cyanosis or bruising of the presenting part, sometimes associated with petechiae, is also quite common, particularly over the face if there has been a nuchal cord. If there is any doubt check arterial oxygen saturation with a pulse oximeter. Babies with confirmed central cyanosis should be admitted to the neonatal unit and investigated urgently, beginning with a blood gas estimation and a chest X-ray and proceeding to an early echocardiogram if there is no evidence of respiratory disease.
Cyanosis during crying early in postnatal life may be quite normal as a result of transient elevation of pulmonary vascular resistance with right-to-left shunting, but cyanotic attacks should always be taken seriously.
Pallor
Mature babies appear paler than preterm ones, because of their relatively thick skin. Generalised pallor may indicate anaemia, peripheral shutdown with shock, or both. The capillary filling time can be estimated by pressing on the skin and should not be longer than 3 seconds if the skin is warm.
Jaundice
This is discussed in detail elsewhere ( Ch. 29.1 ) but is often detected first during the routine newborn examination. Icterus appearing in the first 24 hours requires urgent investigation and treatment and should at once evoke the response ‘What is the mother’s Rh and ABO group? Were there any antibodies and are there any other signs of congenital infection?’
Jaundice appearing between 2 and 4 days is extremely common. Jaundice in preterm (including near-term) babies requires very careful evaluation and if any jaundiced baby is ill in any way (unduly lethargic, feeding poorly, vomiting or has an unstable temperature), infection – or worse, bilirubin encephalopathy – must be excluded. The level of bilirubin is hard to judge by eye, and hence it must be measured. A transcutaneous bilirubinometer can be used ( Ch. 29.1 ). This is particularly important in Afro-Caribbean, Oriental and Asian babies in whom clinical assessment of jaundice is fraught with hazard. Healthy term infants are not immune from kernicterus but levels of bilirubin above 500 µmol/l are probably required to produce it ( Ch. 29.1 ). Audits have shown that common factors are lack of professional concern about jaundice, inadequate breastfeeding and a failure to recognise that the near-term baby (35–37 weeks) is particularly susceptible. These risk factors have been recognised by the National Institute for Health and Clinical Excellence (NICE), together with a family history of a sibling requiring treatment for neonatal jaundice. All babies with risk factors should be examined at around 48 hours to assess whether visible jaundice is present.
Skin texture
Note whether the skin is peeling (common in postterm infants), nice and firm (normal) or very loose (intrauterine growth retardation or dehydration). Oedema is uncommon in full-term infants and should always raise the question of hypoalbuminaemia. Pedal oedema and a low hairline should make the examiner think of Turner syndrome in a baby girl ( Ch. 31 ).
Skin rashes
These are very common in newborn babies. Flat lesions are described as macular (by definition macules are <1 cm but the term is not always used this way). Raised lesions are described as papular when they are up to 1 cm in size and nodular up to 2 cm. Raised clear fluid-filled lesions are vesicular (<1 cm) or bullous (>1 cm). When raised lesions contain purulent fluid they are termed pustular. Diagnosis of a petechial rash, which does not blanch on pressure, should prompt a platelet count. Milia are tiny cream papules, which are inclusion cysts containing trapped keratinised stratum corneum, and which usually resolve without treatment.
The most frequent skin disorder of newborn infants is erythema toxicum neonatorum (toxic erythema; Ch. 32 ). There is an eosinophilic infiltrate into the dermis and there can be an associated eosinophilia in the blood. The rash usually starts between 24 and 48 hours of age and resolves by the fifth day. The appearance has been compared to a flea bite.
Transient neonatal pustular melanosis ( Ch. 32 ) is extremely common in Afro-Caribbean babies, and is a similar reaction to erythema toxicum although the lesions are present from birth. These pustules contain neutrophils. The pustules are very fragile and easily wiped away to leave a scaly area. This area resolves into hyperpigmented brown macules. They have been termed lentigines because of their resemblance to lentils, but they are not true lentigines. The macules last for several months before fading. No treatment is needed and the main importance of recognising the condition is to avoid overtreatment on the basis that they are thought to be due to a staphylococcal infection.
Milia are papules that commonly appear on the face or scalp, although they can occur anywhere, including on the penis and inside the mouth (where they are called Epstein’s pearls when they are found on the palate). They are tiny white smooth-surfaced papules. They are inclusion cysts which contain trapped keratinized stratum corneum. They usually clear up within a few months and no action other than reassurance is necessary.
Miliaria rubra, or prickly heat, is common in hot humid climates. The rash usually occurs mainly on the head and upper trunk.
Head and skull
Babies’ heads can be considerably distorted and moulded during labour and delivery; there may be a marked caput succedaneum (oedema caused by pressure over the presenting part) which subsides in 2–3 days, or the soft skull bones can be greatly moulded. Either or both of these factors can produce bizarre head shapes which persist for the first few days and sometimes longer. It is important to distinguish deformation – the result of impact from mechanical forces on normal tissue – from malformation. Up to 20% of babies show effects of intrauterine constraint ( ). Babies who have been in the breech presentation for a long time in utero often have a ‘breech head’ with a prominent occipital shelf ( ).
Feel the anterior fontanelle for its tension and size; it can measure up to 3 × 3 cm at its widest points, though the size is very variable. Fullness may indicate raised intracranial pressure (cerebral oedema, hydrocephalus or meningitis). The posterior fontanelle is often open at this age but is usually only fingertip size, with only 3% more than 2 cm in diameter. Examine the cranial sutures for any undue separation, which is abnormal. Overriding of the bones of the vault is common in the first 48 hours, but ridging at the suture lines, as opposed to the ‘step-up’ feel of overriding, implies craniosynostosis (premature fusion of the sutures). The sagittal suture is the most commonly affected. Craniosynostosis occurs in about 0.4 per 1000 births and may require a neurosurgical procedure for cosmetic correction, or to allow brain growth if several sutures are fused ( ). Limb defects, particularly syndactyly, are the most common associated malformations and it may be worth asking the parents if they have fused toes.
Palpate the skull bones; small areas of craniotabes caused by pressure from the maternal pelvis occur in 2% of normal newborns and are of no significance ( ). Cephalhaematomas – collections of blood between the periosteum and the skull bones – are felt as softish bumps over the affected bone, most commonly the parietal, and do not extend across the suture lines. Explain their benign nature to the mother and add that they may take 6 weeks or more to subside. A boggy swelling crossing a suture line is more sinister and can indicate subgaleal haemorrhage ( Ch. 40.3 ). There may be a chignon from the use of a vacuum extractor. Neonatal skull fractures are rare. Elevation of the ‘ping-pong’ ball type of fracture where the bone is depressed but not fractured can be achieved with the application of a vacuum extractor. Linear skull fractures usually require no treatment but should be followed with a repeat X-ray because if the dura has been torn a ‘growing’ fracture can develop ( ; ).
Inspect the scalp for any injury such as forceps marks or lacerations from scalp electrodes, fetal blood sampling or instrumental delivery. Look also for any bald patches or naevi over the scalp. A small defect of the scalp, cutis aplasia, can be confused with the scar of a scalp clip electrode. Cutis aplasia ( Ch. 32 ) is a serious congenital abnormality with a risk of infection and bleeding from the underlying dural venous sinuses, and may be a clue to an underlying diagnosis such as Adams–Oliver syndrome.
Measure the occipitofrontal head circumference (OFC) at its maximum and ensure that it falls within the normal range (approximately 33–37 cm at term). Compare the measurement with any pre-existing measurements; rapid enlargement of the head after birth with boggy swelling crossing the suture lines is due to the rare and dangerous condition of subgaleal haemorrhage ( Ch. 40.3 ). There is a strong association with ventouse delivery. If the head is unduly small (below the second centile) consider dysmorphic syndromes, congenital infections or isolated microcephaly. If the head is unduly large from the beginning consider familial megalencephaly or hydrocephalus. A large head in the presence of widely separated sutures or a full fontanelle requires immediate ultrasound evaluation. Remember that moulding of the skull can lead to an erroneous OFC measurement which returns to normal once the moulding has subsided.
Face
Most babies’ faces are unremarkable, apart from perhaps resembling one or other parent. Occasionally, however, the facial appearance is the first clue to an underlying disorder such as Down syndrome. The bloated cherubic face of infants born to mothers with diabetes is also characteristic ( Ch. 22 ). If unusual facial features are seen this should prompt a particularly diligent search for other dysmorphic manifestations, but if the baby is asymptomatic and otherwise normal the appearance may well be familial and a glance at the parents may confirm this. Nasal septal deviation is quite common, and the nose usually straightens over the first few days. Occasionally there is a frank dislocation of the nasal septum which requires relocation (see below).
There is a difference between facial palsy and asymmetric crying facies. The latter is often due to congenital absence of the depressor anguli oris muscle (DAOM); these babies can wrinkle their foreheads and close their eyes, in contrast to babies with a facial nerve palsy. The incidence of absent DAOM is about 0.6–0.8% of the population, and there is an association with congenital heart disease ( ). When the diagnosis is that of facial palsy, spontaneous recovery occurs within 4 weeks in 90% of cases ( ).
Ears
Look at the general shape, size and position of the ears and feel the cartilage. Low-set ears are those in which the top of the pinna falls below a line drawn from the outer canthus of the eye at right angles to the facial profile ( Fig. 14.1 ). Abnormally small or large floppy ears are characteristic of several syndromes, and the combination of ear anomalies and a coloboma can be a clue to CHARGE syndrome ( Ch. 31 ). Overfolding of the helix can result from fetal constraint, and in mild cases resolves without treatment over the first weeks of life. Taping and splinting have now been shown to be remarkably successful even in cases which would previously have required surgery ( ; ). Note any preauricular pits, skin tags or accessory auricles. Otoscopic examination does not form part of the routine examination.
The prevalence of isolated ear tags is 1.7 per 1000 with bilateral tags in 6% ( ). Ear pits and tags can be autosomal dominant, but it is important to assess hearing in these babies. Routine renal ultrasonography is probably unnecessary if ear pits or tags are isolated ( ).
Hearing screening
Congenital hearing impairment in one or both ears affects about 1–2 : 1000 babies, and early aiding is associated with better language, communication, mental health and employment prospects. Much congenital deafness is now known to be genetic, with recessive mutations at the connexin locus accounting for many cases ( ). Universal hearing screening in the neonatal period is now in place in the UK.
Nose
Inspect the nose for its general shape and width of the bridge. If it appears abnormally wide, measure the distance between the inner canthi; this should not exceed about 2.5 cm in the term infant. The nose can appear quite squashed as a result of intrauterine compression. Occasionally the septal cartilage is dislocated and this can be recognised by deviation of the columella. Compression of the tip of the nose causes collapse and increased deviation of the nostrils in this condition, which requires treatment by an ear, nose and throat surgeon. Flaring of the alae nasi is not normal and its presence indicates respiratory illness. Babies are obligate nose breathers and hence complete nasal obstruction (diagnosed by failure to mist a mirror) causes intense respiratory distress which requires immediate investigation. Snuffly noses are quite common, but provided the baby can breathe normally during feeding, serious problems are rarely present; if in doubt ensure that both nares are patent by passing a fine catheter through each nostril.
Eyes
The eyes should always be inspected for any gross abnormality, noting their size, dimensions and slant; check for any strabismus or nystagmus. A third of newborns have an intermittent exotropia but esotropia is not normal. Congenital cataract is the commonest form of preventable childhood blindness and evaluating the red reflex is an essential part of the neonatal examination (see below), although it is not feasible to perform full fundoscopy on every baby. Fundoscopy should of course be attempted if there is any question of abnormality.
Look for (and ask about) any discharge from the eyes. A slight mucoid discharge (‘sticky eye’) is very common in the first 2 days after birth, but later is likely to be due to failure of canalisation of the nasolacrimal duct. A membranous obstruction in this structure persists in 70% of neonates, but resolves spontaneously by 3 months of age in 70% and by a year in 96% ( ). After a year probing may be required; earlier in life simple cleaning of crusts is the best treatment. Referral is not required, but beware photophobia or conjunctivitis, which suggests another diagnosis. Occasionally congenital obstruction of the nasolacrimal duct combines with an obstruction to retrograde flow to produce a dacrocystocele – a tense blue grey swelling just beneath the medial canthus. These often become infected (dacrocystitis). A frankly purulent discharge, particularly if accompanied by redness and swelling of the eyelids, should always be taken seriously and demands bacterial investigation and treatment. Subconjunctival haemorrhages are very common after birth (analogous to petechiae in the skin), and are harmless although the mother may need reassurance. The sclerae provide a guide to jaundice.
Iris
The iris is normally blue or grey in the newborn. Look for colobomas (keyhole-shaped pupil): if present there could also be a defect in the retina, and this should prompt a search for other congenital malformations. Babies with aniridia often have a poor visual outcome.
Cornea
Check that the cornea does not appear abnormally large, especially if the baby has prominent eyes. The corneal diameter is normally about 10 mm, and if this is greater than 13 mm (particularly if the cornea is also hazy) the baby might have congenital glaucoma ( Ch. 33 ). The cornea should be bright and clear; corneal opacities deserve referral to an ophthalmologist as they can be due to herpetic ulceration, posterior corneal defects, endothelial dystrophies or abnormal metabolic infiltrations. Corneal haze after a forceps delivery usually resolves.
Cataracts can be occasionally seen with the naked eye using a bright light shone tangentially. The lens should always be examined through an ophthalmoscope held 15–20 cm from the eye. If the lens is clear you should be able to see a red retinal reflex. If there is any doubt an ophthalmological opinion must be sought urgently, as the baby may have a congenital cataract. The best results are obtained after early treatment, before there is any chance of stimulus deprivation amblyopia ( Ch. 33 ). A dull red reflex can also be secondary to congenital melanoma or cytomegaloviral retinitis. Unfortunately the neonatal screen performs poorly in the detection of cataract: 83/235 (35%) of cases diagnosed in the UK between 1995 and 1996 were detected at the newborn screen with further cases being uncovered at the 6-week check ( ). Two-thirds were bilateral. The prevalence was estimated as 2.5 per 10 000 children. Babies in whom cataract is diagnosed must be investigated for the cause ( Ch. 33 ). Congenital cataract is a target condition of the current NIPE programme, with the aim that 95% of all cases detected should be seen by an ophthalmologist within 2 weeks.
Mouth
Note if the mouth is of normal size or if there is micrognathia. Observe any asymmetry of the corners of the mouth and the nasolabial folds.
Inspection of the inside of the mouth is best done either while the baby is crying lustily or by making him open it (pressing down on the chin sometimes does the trick). It is better not to use a tongue depressor. One should ensure that the palate is intact by seeing it directly; palpation is not enough. It is embarrassing, to say the least, to have missed a cleft in the soft palate which later turns up as a feeding problem or nasal regurgitation.
Minor variations of normal which may be seen include: Epstein’s pearls (white patches of microkeratosis akin to milia on the palate); natal teeth (which are rare in Caucasian populations but are usually best removed, especially if loose); short frenulum or ‘tongue tie’ (which very rarely needs treatment, Ch. 20 ); and bluish swellings (ranulae) on the floor of the mouth which are mucus retention cysts and need no treatment.
Neck
The baby has a relatively short neck, which should be inspected for general shape and symmetry, palpated for any lumps or swellings and tested for its full range of movements.
A webbed neck may suggest Turner syndrome ( Ch. 31 ). A very short webbed neck with or without torticollis may indicate underlying abnormalities of the cervical spine (Klippel–Feil syndrome). Redundant skin posteriorly is one of the characteristics of Down syndrome ( Ch. 31 ).
Cystic hygromas are soft fluctuant swellings, usually arising in the posterior triangle, which transilluminate readily. Sternomastoid ‘tumours’ are lesions in the sternomastoid muscle caused by haemorrhage or ischaemia resulting in secondary fibrosis ( Ch. 37 ).
The clavicles should be palpated for fractures, especially if there is any suggestion of Erb’s palsy, or if there was shoulder dystocia.
Chest and cardiorespiratory system
In spite of advances in antenatal scanning, most congenital heart disease is still unsuspected before birth, and babies still present with cyanosis, shock or a murmur. Congenital heart disease is one of the commonest groups of congenital abnormalities, being found in 7–8 per 1000 newborns. Unfortunately the neonatal examination performs no better in the detection of congenital heart disease or DDH than it does for cataract. Even in the best hands, the neonatal check fails to detect over half of all babies who are subsequently found to have significant heart disease ( ; ; ). A large retrospective study of all births in the northern region of the UK revealed 1590 babies with heart disease diagnosed by the age of a year from a cohort of 300 102 births ( ). As many as 33% presented with signs before the newborn examination was carried out (five died), and of the remaining 1061 babies the examination revealed an abnormality in just under half. Even when an abnormality was suspected, the usual arrangement for discharge with a 6-week paediatric follow-up was shown to be too late for some; a further nine babies died between discharge and 6 weeks. The main causes of death are hypoplastic left heart, interruption of the aortic arch, critical aortic stenosis and coarctation of the aorta.
Start by inspecting the chest. Breast swelling is quite normal at this age and a few drops of ‘witches’ milk’ may be expressed from them. These changes are of no significance unless there is obvious inflammation, but the mother may need reassurance.
Many deductions about the cardiorespiratory state can also be made by simple inspection. As well as noting the infant’s colour, the single best clue to overall function, observe the respiratory rate and other signs of respiratory distress such as retractions and grunting. If there is any doubt about the presence of cyanosis, check with a pulse oximeter. Pulse oximetry can improve the detection of congenital heart disease ( ; ; ). About 5% of babies had a postductal oxygen saturation <95% at more than 2 hours of age, but only 1% of babies had a low result when it was checked twice: 10% of these had cardiac disease. The American Heart Association/American Academy of Pediatrics recently reviewed the question of pulse oximetry screening after 24 hours of age in some detail ( ). Ten studies with a population of 123 846 infants were summarised, with a false-positive rate of 0.035% when screening was done after 24 hours. A UK economic evaluation of the addition of pulse oximetry concluded that, of 121 infants in every 100 000 livebirths currently undetected by antenatal screening, 39 (32%) would be detected by clinical examination alone and 82 (68%) would be detected by pulse oximetry ( ). The additional cost per timely diagnosis was £4900 for pulse oximetry. Pulse oximetry was considered a promising alternative but further evaluation was recommended. Pulse oximetry can also detect babies with systemic illness ( ). Certain groups of babies are at high risk of congenital heart disease, including those with Down syndrome (40–50% have heart defects), and in these babies screening echocardiography should be performed. Pulse oximetry is not part of the standard newborn screening examination, but most hospitals now have a pulse oximeter available in the room where newborn examinations are carried out, and this is a sensible addition given the current evidence.
The respiratory rate is normally 40–60 breaths/min. A baby whose respiratory rate is persistently above 60 breaths/min needs very careful evaluation and continued observation, because this is unusual; 60 breaths/min is just above the 90th centile for the normal respiratory rate at term ( ). Remember that all infants, particularly preterm ones, can have pauses of 5–10 seconds interspersed with periods of regular breathing (periodic breathing; Ch. 27.4 ). True apnoeic attacks last longer than this and are extremely rare in the full-term neonate. Observe the respiratory pattern. When the infant is quiet, there should be no flaring of the alae nasi, no grunting and no retractions. On crying, some babies, especially if premature, may exhibit mild sternal or subcostal retraction.
The lungs can be auscultated at the same time as the heart, but by and large this is an unrewarding exercise if there are no respiratory symptoms.
Palpate the precordium for any thrills or a pronounced ventricular heave. The point of maximal impulse is usually found in the left fourth intercostal space inside the mid-clavicular line. Percussion of an asymptomatic infant’s chest is a waste of time.
Check the peripheral pulses: a persistent ductus arteriosus with a significant left-to-right shunt produces a bounding quality. Always palpate the femoral pulses; if they are absent or difficult to feel, suspect coarctation. Four-limb blood pressure may help by confirming a differential between the upper and lower limbs; however, normal newborns can have a difference of up to 20 ± 3.5 mmHg ( ). A difference of 20 mmHg or more suggests coarctation ( Ch. 28 ).
Innocent heart murmurs
An innocent murmur is one that does not signify cardiac disease. Sixty per cent of normal newborns have a systolic murmur at the age of 2 hours (Braudo and Rowe 1961), but the incidence falls to around 1% by the time the routine neonatal examination is performed ( ; ). Murmur is not the only sign of significant heart disease, and currently the neonatal examination detects only about a half of all babies who eventually present in the neonatal period with significant problems. found a high incidence of problems when a murmur was present, but all those who care for the newborn must be aware that the absence of a murmur does not guarantee a normal heart, and vice versa. It is possible to make a positive diagnosis of an innocent murmur using clinical skills alone ( ), and the following features were emphasised in a study from Oxford ( ):
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grade 1–2/6 murmur at the left sternal edge
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no clicks on auscultation
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normal pulses
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otherwise normal clinical examination.
When a positive diagnosis of an innocent murmur was made in this way, no babies with cardiac disease were identified with subsequent echocardiography. About 23% of those who were offered echocardiography had significant cardiac disease ( ).
The usual origin of an innocent murmur is the acute angle at the pulmonary artery bifurcation; a few cases have patent ductus arteriosus or tricuspid regurgitation which resolves rapidly. suggested six features to help non-cardiologists identify significant murmurs:
- 1
pansystolic
- 2
grade 3/6 or more
- 3
best heard in the upper left sternal border
- 4
harsh quality
- 5
abnormal second heart sound
- 6
early or mid-systolic click.
Clinical examination was correct 98% of the time when similar criteria were applied to childhood murmurs, albeit by paediatric cardiologists ( ; ). Clinical evaluation without laboratory tests was equally effective in the hands of general paediatricians in Denmark ( ). Electrocardiogram (ECG) and chest X-ray have traditionally been used to assist in the classification of murmurs as innocent, but the clinical diagnosis is rarely changed by ECG ( ; ) or chest X-ray ( ; ), and these tests should be abandoned for this purpose. An examination by an experienced colleague is a better aid to the identification of genuinely innocent murmurs. The widespread availability of echocardiography now means that this investigation, with the accompanying expert consultation, should be offered early to babies whose neonatal murmur cannot confidently be classified as innocent.
Mention of ‘heart murmurs’ produces intense anxiety, and talking about ‘holes in the heart’ is guaranteed to produce a flood of tears; now that it is clear that many are due to pulmonary vessel ‘kinking’ in a normal heart this is perhaps a less disturbing explanation. You can reassure the parents that 80–90% of murmurs found in the neonatal period will disappear during the first year, most of them within the first 3 months, and that if this is the case the baby will be discharged from the outpatient department. A practical guide to the action to be taken when a murmur is discovered is given in Table 14.2 .