Abstract
The ‘6-week check’ is a head-to-toe assessment that forms part of the newborn and infant physical examination (NIPE). This NHS screening programme comprises two stages: the neonatal component takes place within 72 hours of birth, usually before discharge home, and the infant examination is performed between 6 and 8 weeks of age, typically in the community by the GP. The NIPE aims to detect abnormalities of the eyes, heart, hips and testes, and to ensure appropriate follow up of positive findings. It also presents an opportunity for care providers to monitor a child’s general health and development, and to provide information, health promotion, and support to parents and carers. This article seeks to describe in more detail the background and purpose of the infant check, to provide a systematic approach for performing the examination with a focus on four key conditions and to recommend referral pathways for positive findings.
Clinical case scenario
The first-time parents of an 8-week old girl bring their child in for her routine vaccinations. The practice nurse asks you to see her beforehand to complete the ‘6-week check’. She was born at term by uncomplicated vaginal delivery, but underwent an external cephalic version at 36 weeks for breech presentation. The child is feeding and growing well, although her parents are concerned about a swelling protruding from her belly button. Both parents are newly registered at your practice and you do not yet have access to any medical notes apart from the hand-held pregnancy notes and the child’s red book. The mother informs you that she has type 1 diabetes. How should you approach the examination, and on which areas should you focus?
Background
Why, when and by whom?
The primary purpose of the newborn and infant physical examination (NIPE) is to screen for four key conditions: congenital cataract, congenital heart disease, developmental dysplasia of the hip, and cryptorchidism (undescended testes). It also provides an opportunity to perform a general physical assessment, to monitor growth and development, to enquire into the mother’s mental and physical health, to provide opportunistic health advice and support, and to signpost families to relevant services.
Repeating the NIPE at 6 to 8 weeks of age aims to detect abnormalities that were not present or identified within 72 hours of birth. The infant examination can be performed any time after 6 weeks and many babies will have it on the same day as their 8-week immunisations. If the check is missed or delayed, it should be done as soon as possible. In a preterm infant, it is usually timed according to chronological age. Ideally a 20-minute appointment should be allocated, which may be part of a dedicated ‘baby clinic’ where resources allow.
Useful resources.
General approach
The examination should take place in a warm, quiet room with the appropriate equipment prepared: This includes disposable gloves, a non-elastic tape measure, a direct ophthalmoscope, paediatric stethoscope and baby weighing scales. The National Institute for Health and Care Excellence (NICE) recommends that: both parents should be encouraged to be present during any physical examination of their baby', although this may not always be feasible. The purpose of the examination should be explained to the parents, consent gained and any parental concerns addressed beforehand. The assessment should also include a review of relevant family, obstetric, perinatal and infant history, paying particular attention to any family history of conditions related to the eyes, heart, hips or testes (NICE, 2006).
A systematic approach.
Head
Assessment of the head and neck can take place with the infant clothed and on their carer’s lap. First, the child’s general appearance should be assessed including colour, breathing and activity. Eliciting a social smile – which should be present by this age – may help to relax both infant and their carer and build trust and rapport.
The fontanelles should be soft and concave and may pulsate in synchrony with the heartbeat. The posterior fontanelle closes at around 6–8 weeks, and the anterior fontanelle between 9 and 18 months. Note should be made of the head shape; flattening of the skull unilaterally (brachycephaly) or posteriorly (plagiocephaly) is usually harmless and resolves spontaneously, whereas premature fusion of the skull sutures (craniosynostosis) requires referral to a paediatrician or specialist craniofacial unit (Mathijssen, 2015).
Head circumference should be measured using a non-elastic tape measure around the widest part of the head; this is generally from one-to-two finger breadths above the eyebrows anteriorly to the most prominent part of the occiput posteriorly. Three measurements should be taken, and the average plotted in pencil on the growth chart in the child’s Personal Child Health Record (PCHR), commonly known as the ‘red book’. An infant with a large head is a common and often benign presentation in the absence of other concerning signs. However, infants with signs of raised intracranial pressure or hydrocephalus, or head circumference rapidly crossing centiles upwards require urgent brain imaging and expert assessment (Seal, 2013).
Eyes
Aetiology and epidemiology
The first major condition screened for in the infant examination is congenital cataract. This refers to a clouding of the lens in one or both eyes that is present at birth. Cataracts can cause irreversible visual impairment or blindness, most commonly due to stimulus deprivation in the developing visual system which leads to amblyopia (Russell et al., 2011). According to data from rare disease registries, the prevalence of congenital cataracts in the UK from 2011–2017 was 0.94 per 10 000 live births (European Platform on Rare Disease Registration, 2019). Early detection and management is therefore essential before lasting damage can occur.
Risk factors for congenital cataracts include a family history of congenital cataracts in a first-degree relative; chromosomal abnormalities such as trisomy 21; and vertically transmitted infections such as toxoplasmosis, rubella, cytomegalovirus, varicella, and herpes virus. Of 243 cases studied by Rahi and Dezateaux (2001), a third of them were bilateral. Over half had isolated cataracts, whereas a quarter had an associated ocular disorder, and fewer than 20% had a systemic condition.
Assessment and referral
Testing the red reflex.
Face
The ears, nose, and mouth should be evaluated for position, shape and symmetry, and any dysmorphic features. Rooting and sucking reflexes may be observed; the rooting reflex causes an infant to turn its head towards anything that brushes its cheek or mouth, and the sucking reflex leads it to instinctively suck anything that touches the palate. This is elicited by gently inserting a gloved finger into the mouth, which also enables assessment for a cleft palate. Cleft lip or palate affects around 16 per 10 000 births and should be referred to the local cleft service within 24 hours (European Platform on Rare Disease Registration, 2019; NHS England, 2013).
Neck and arms
The neck and clavicles should be palpated for any bony abnormality or callous formation, which may indicate an undiagnosed clavicular fracture. Note the proportions and symmetry of the arms, hands and digits, before removing all clothing except for the nappy and laying the child on a comfortable, secure surface.
Chest
Aetiology and epidemiology
Congenital heart disease (CHD) is the most common congenital abnormality in the UK, affecting around 55 per 10 000 live births. The most common manifestation is ventricular septal defect, with critical lesions accounting for up to a quarter of cases (European Platform on Rare Disease Registration, 2019). Many serious and critical conditions are detected through the prenatal foetal anomaly scan, which aims to detect at least half of all cardiac lesions. Others will be picked up by the neonatal check, although not all murmurs or other signs of CHD will be detectable at this stage. Wren et al. (2017) found that 25% of over 4000 infants with CHD in England had left hospital without a diagnosis.
Family and obstetric history should again be ascertained. Congenital cardiac anomalies are associated with congenital heart disease in a first-degree relative. Elicit any history of maternal comorbidities (such as type 1 diabetes, systemic lupus or epilepsy), gestational exposure to infection, teratogenic medications or alcohol, or past history of foetal chromosomal conditions (such as Down’s, Turner and Noonan syndromes).
Assessment and referral
Examination of the heart begins with inspection for colour and work of breathing, including respiratory rate, use of abdominal muscles, inter- and subcostal recessions and grunting. Palpation should assess peripheral perfusion, the strength, rhythm and volume of femoral and brachial pulses, the position of the cardiac apex, and the presence of hepatomegaly, which may indicate congestive cardiac failure.
Auscultation must take place while the child is quiet, which may mean doing this first. The stethoscope should be placed in the aortic, pulmonary, tricuspid, mitral and intrascapular regions to assess for murmurs. In general, a murmur is more likely to be pathological if it is loud, diastolic or continuous, heard over a wide area, or associated with other abnormal features, while, a soft systolic murmur at the left sternal edge in an otherwise normal infant may be benign (Frank and Jacobe, 2011). Any murmur associated with a heave, weak or absent pulses, central cyanosis, respiratory distress, poor feeding or failure to thrive requires prompt expert evaluation (Venugopalan and Ranaweera, 2015). If in any doubt, discuss with a paediatric cardiologist and refer as appropriate. The gold standard for diagnosis of CHD is echocardiography, a quick and non-invasive test. The lungs should also be auscultated at this point.
Abdomen
Next the abdomen should be inspected for shape and the condition of the umbilicus, which should be well healed. As described above, palpation may reveal organomegaly in cases of heart failure. Herniae may also be noted; an inguinal hernia requires surgical repair within weeks, due to the risk of bowel incarceration or testicular ischaemia, while umbilical herniae require surgery if persistent at 3 years (Great Ormond Street Hospital, 2012, 2015).
Skin
A thorough inspection of the skin should be undertaken, noting any birthmarks or rashes. Recording Mongolian blue spots (also known as blue or slate grey naevi) is particularly important, as these may later be mistaken for bruising.
Central nervous system
The neurological assessment begins with observing posture, movements and behaviour. The infant should be held in ventral suspension to assess truncal tone; they should be able to hold their head in line with their body. Now the spine should be inspected and palpated for integrity of the skin and bony structures to detect spina bifida occulta. According to guidance from the Royal College of Radiologists, a child with a sacral dimple should be referred for a lumbar spine ultrasound scan if they have any abnormal neurology, cutaneous stigmata such as hair tufts or haematomas, or if the dimple is greater than 5 mm in size or more than 25 mm away from the anus (n.d.). It has been argued that the depth of the dimple is less relevant than location or associated stigmata (Dias, 2010). However, if the base cannot be visualised it is common practice to refer for imaging. Primitive reflexes such as the Moro and Babinski reflexes need only be elicited if concerned and may be abnormal or absent in neurologically atypical infants.
Hips
Aetiology and epidemiology
Developmental dysplasia of the hip (DDH) refers to instability of the femoral head within the acetabulum due to ligamentous laxity or incomplete bony modelling of either component. The prevalence of hip dysplasia in the UK between 2011 and 2017 was around 6 per 10 000 live births according to the European Platform on Rare Disease Registration (2019). Most unstable hips stabilise spontaneously within the first few weeks of life, but if persistent and untreated can lead to pain and impaired mobility requiring surgical intervention.
Breech presentation is a major risk factor for DDH. A hip ultrasound scan should be performed by 6 weeks of age for any infant in breech position at 36 weeks of pregnancy or beyond, regardless of the presentation at delivery (including those who undergo successful external cephalic version), and any infant born breech between 28 weeks and term. If any baby in a multiple pregnancy has either of these risk factors, all babies in that pregnancy should have a hip ultrasound scan, as it may be difficult to identify which was affected. Infants with a first-degree relative with hip problems in early life also require routine ultrasound scanning by age 6 weeks (PHE, 2019). If any of these risk factors apply, ensure that imaging has been arranged. Check local guidelines for further indications for routine ultrasound scanning. DDH is more common in girls, and disproportionately affects the left hip (Shaw et al, 2016).
Assessment and referral
Examination of the hips may be distressing for the baby, so is usually performed towards the end. The child should be undressed and lying supine. The legs should be inspected for symmetry in leg length and the level of the knees when both hips and knees are flexed; asymmetry here is considered a positive finding. Observation of skin crease symmetry is no longer part of the NIPE examination.
Manoeuvres are performed on each leg independently, while stabilising the contralateral hip. Barlow’s manoeuvre tests hip instability: both hips should be flexed and adducted and posterior pressure applied to the thigh being tested. If the hip dislocates, the test is positive. Ortolani’s manoeuvre aims to relocate a dislocated femoral head. The examiner places the index and middle fingers laterally over the greater trochanter, and the thumb medially near the groin crease. The hip is then gently abducted, while the lateral fingers apply upwards force through the trochanter. A positive Ortolani test is a palpable ‘clunk’ as the femoral head is reduced into the acetabulum. Other positive findings on examination of the hip are a unilateral restriction of abduction where the difference between the two hips is 20° or more or bilateral restriction of hip abduction by 30° or more (PHE, 2019).
Children with positive findings should be referred urgently to a paediatric orthopaedic surgeon and seen before 10 weeks of age. If isolated clicks are identified in an otherwise normal hip examination, these should be recorded, but not considered a positive finding (PHE, 2019). Again, if in any doubt seek advice from a colleague or specialist. A hip ultrasound scan is a non-invasive diagnostic tool, and missed diagnoses of DDH have previously been the subject of litigation against NHS trusts (Afrey et al., 2010). If a child presents for their infant examination beyond 3 months of age, Barlow’s and Ortolani’s manoeuvres for hip instability are no longer accurate. Instead, observe any leg-length discrepancy or restricted hip abduction, and assess the child’s gait if applicable.
Feet
The feet should be examined for symmetry, proportions and positioning. In congenital talipes equinovarus – or ‘clubfoot’ – the foot is plantar flexed with the forefoot adducted, such that the sole rotates postero-medially. True talipes is not passively correctible and should be referred urgently to orthopaedics for correction through manipulation and casting (the Ponseti method).
Genitalia
Next, the nappy should be removed and the anus and genitalia inspected for completeness and patency. Male infants with hypospadias – a urethral opening located not at the tip of the penis but elsewhere on the head or shaft – should be referred to a paediatric urologist and may require surgery at 6 to 12 months of age. In these cases, parents should be advised that the child should not be circumcised, as the foreskin may be required for surgical reconstruction (Manzoni et al., 2004). Any other genital concerns should be referred immediately according to local pathways.
Aetiology and epidemiology
Male infants require a testicular examination to rule out cryptorchidism, or undescended testes. This occurs when one or both testes have not completed their descent into the scrotum before birth, usually remaining in the abdomen or inguinal canal. A UK cohort of male babies born between 2001 and 2008 demonstrated a prevalence of cryptorchidism of 5.9% at birth (Acerini et al., 2009). Unilateral cryptorchidism is four times more common than bilateral (Ritzen, 2008), with most unilateral cases involving the right side (Abaci et al., 2013).
Risk factors for undescended testes include preterm delivery, low birth weight, small for gestational age, and presence of another genital abnormality such as hypospadias. Other maternal and environmental factors may also contribute. Cryptorchidism may be associated with inguinal hernia and cosmetic concerns, and without treatment could increase the risk of torsion, subfertility due to impaired spermatogenesis, and testicular cancer (Abaci et al., 2013).
Assessment and referral
To assess for testicular position, the patient should be supine with the legs abducted. The examiner’s hands should be warm, as cold hands may stimulate the cremasteric reflex and cause the testes to retract. Beginning at the anterior superior iliac spine, sweep the groin from lateral to medial with the non-dominant hand. When the testis is located, grasp it with the dominant hand and try to sweep it towards the scrotum with the other hand. Hold it in place for 1 minute to fatigue the cremasteric muscle before releasing; an undescended testis will return immediately to its original position, whereas a retractile testis will usually stay in the scrotum for a short time before retracting. If unable to distinguish between the two, refer to a paediatric urologist. Studies suggest that around 20% of undescended testes are impalpable, as they are ectopic, absent, or impalpably small (Abaci et al., 2013). If a testis is not palpable, do not arrange imaging in primary care, but rather refer to a paediatric urologist; surgical exploration will be required regardless of the outcome of investigations (NICE, 2014).
Infants with bilateral undescended testes detected at birth should have been referred to a senior paediatrician to exclude a disorder of sexual development. If this has been ruled out and one or both testes remain undescended at the 6 to 8-week check, the child should be re-examined at 3 months; most will descend spontaneously by this time due to a brief increase in endogenous testosterone. If one or both testes remain absent from the scrotum at 3 months, the child should be seen by a paediatric surgeon before 6 months of age (PHE, 2019). Orchidopexy should be performed between 6 and 12 months of age, or as soon as possible if diagnosed later (Ritzen, 2008).
Growth and feeding
When to suspect faltering growth.
Closing the consultation
At the end of the examination, parents and carers should be informed of the findings and next steps and invited to ask questions or discuss any concerns. All findings should be recorded in both the clinical notes held by the GP and in the baby’s PCHR. Many GP computer systems, including SystemOne and EMIS, have inbuilt templates for documenting results of the infant examination and may include local referral guidelines with links to patient information.
If any positive results are detected, the practitioner conducting the examination should make the appropriate referrals and ensure that any required follow up has been actioned. Figure 1 provides a summary of the four main conditions screened for in the infant check, and recommended referral pathways. Infants who screen negative should be transferred to the Healthy Child Programme (HCP), the government’s preventative healthcare programme focussed on screening, immunisation and information (PHE, 2019). The infant check is also an opportunity to ensure that all other aspects of the HCP have been completed with no concerns, including the newborn blood spot test at 5 to 8 days, newborn hearing screening at 4 to 5 weeks and all routine immunisations.
Summary of infant screening pathway, positive findings and referral recommendations
NICE recommends routine enquiry into a woman’s mental and physical health at each postnatal contact. In fact, the latest GP contract has been updated to include a requirement for all practices to offer new mothers their own dedicated appointment 6–8 weeks postnatally for a comprehensive maternal check, applicable from October 2020 (NHS England, 2020). Further advice on this can be found in a separate article (Chatterjee, 2013).
KEY POINTS
The main purpose of the infant health check is to screen for congenital abnormalities of the eyes, heart, hips and testes Conducting a top-to-toe examination also allows detection of a range of other conditions The appointment should be used to ensure all other routine monitoring has been completed or followed up appropriately, check vaccines are up to date and provide advice and health promotion The maternal check should be performed at a separate appointment These screening examinations can take time to perfect; watching colleagues or videos can help to improve technique If in doubt about findings, consult a senior colleague or seek specialist advice
ORCID iD
Bethan L Jones https://orcid.org/0000-0003-3601-0641
