This article will provide an overview of some of the most common neonatal pathologies that may be picked up when performing the newborn and infant examination (NIPE). This exam is carried out during the first 72 hours after birth and then repeated at around 6-8 weeks of life by the GP.
Content
1. Congenital heart problems
2. Congenital cataracts
3. Developmental dysplasia of the hips
4. Undescended testicles
5. Jaundice
6. Low and high birthweight
Congenital heart disease
Congenital heart disease affects an estimated 6-12/1000 live births per year (1). Around 15-25% of these will be classified as critical congenital heart disease meaning that they are life threatening and require early intervention within 28 days of life (1). During the newborn examination, health professionals will look for clinical signs indicative of congenital heart disease.
Murmurs
Any murmur auscultated during the NIPE should be reviewed by a paediatrician before the baby is discharged from hospital. A large percentage of babies will have an innocent heart murmur. These are asymptomatic and most often present as mid-systolic ejection murmurs of grade 1-2/6 intensity located in the pulmonary area (left sternal edge). They arise due to the normal circulatory changes that are occurring in the heart after birth, and these murmurs tend to resolve by 3-6 months of age. Babies with such murmurs can be routinely followed up in an outpatient setting.
Pathological murmurs can be pansystolic, diastolic, continuous, loud >2/6 murmurs located other than in the left sternal edge. These will require an inpatient echocardiogram for further evaluation.
Other symptoms
Other signs of congenital heart disease include cyanosis, poor feeding, tachycardia (>160bpm in neonates) and tachypnoea (>60 breaths/min). Any neonate with signs of heart failure, weak/absent femoral pulses, saturations of <96% or a >3% difference in pre and post ductal saturations will require urgent assessment with an echocardiogram, even if a murmur is not present, and admission into NICU (2).
Management
Treatment of congenital heart disease depends on the severity and its underlying cause. In babies with patent ductus arteriosus, indomethacin/ibuprofen can be used to promote duct closure. Conversely, prostaglandin infusions can be used as a temporary measure to keep the ductus arteriosus open in forms of CHD where mixing of the left and right circulatory system is essential to allow the baby to survive until definitive managements such as surgical repair of the defect can be performed.
See the page on Congenital Heart Defects for more information on specific types of congenital heart disease.
Congenital cataracts
Congenital cataracts is a preventable cause of blindness when picked up early. It is estimated that around 200-300 babies are born every year in the UK with congenital cataracts (3). Congenital cataracts is associated with TORCH infections, most commonly rubella.
It most commonly presents with an absent red reflex (fundus reflex) and leukocoria (white opacity). It is important to note that in infants with darker skin tones the red reflex may appear pale. When unsure, it can often be useful to compare the baby’s fundal reflex with that of the parents. Babies who screen positive need to be referred for urgent review by an ophthalmologist within two weeks of the examination for possible cataracts surgery.
Developmental dysplasia of the hips
Developmental dysplasia of the hips (DDH) encompasses a set of hip conditions that can occur within the first year of life including subluxation and dislocation of the hip joint. It has an approximate incidence of 1.2 per 1000 live births and is more common in females. (4)
Early detection of DDH is important, as when detected early, dislocated hips can be easily reduced through simple manipulation. The later this is diagnosed, the more anatomical changes occur to surrounding bones and tissues which means that surgical intervention will be required. Undiagnosed developmental dysplasia of the hip can result in future chronic pain, osteoarthritis, and mobility issues.
Screening
During the NIPE, DDH is screened for by performing a Barlow and Ortolani manoeuvres:
- Barlow manoeuvre: this is used to check if a baby’s hip can be dislocated. The hip is adducted and flexed to 90 degrees, and pressure is applied in a posterior direction. If the femur is felt to move backwards and a ‘clunk’ is heard/felt, this indicates an abnormal test.
- Ortolani manoeuvre: this manoeuvre will reduce a dislocated femoral head back into place. It is performed by abducting the neonate’s hip while having the middle finger over the greater trochanter. As the hip is abducted, some light pressure is applied over the greater trochanter. If the greater trochanter can be felt to move then this indicates an abnormal test.
An easy way to remember the order to perform both test is thinking B comes before the O.
Risk factors
The biggest risk factors for developmental dysplasia of the hips are:
- A first degree relative with hip problems that started during childhood.
- Breech presentation at > 36 weeks gestation regardless of presentation at birth.
- Breech presentation at the time of birth for any baby born after 28 weeks.
- Multiple pregnancy when where the other twin has any of the above risk factors, then the other babies will also automatically need to be screened.
Further investigations
Babies with any of the above risk factors or a positive NIPE test should have a hip ultrasound conducted between 4-6 weeks of age. If the ultrasound is abnormal, then they should be reviewed by an orthopaedic specialist within 6 weeks of age.
Infants who demonstrate a positive Barlow/ Ortolani test should be referred urgently for an orthopaedic review.
In children greater than 4.5 months, suspected congenital hip dysplasia is best investigated using an anterior-posterior pelvic radiograph.
Treatment
When detected early a Pavlik harness can be used that keeps the baby’s hip at a flexed abducted position which allows for the hip joint to remain reduced and allowing for the hip capsule to tighten.
Cryptorchidism
Around in 1 in 25 baby boys are born with undescended testis. Due to higher temperatures in the abdomen undescended testis are linked with a higher risk of infertility and testicular cancer in the future.
In most cases, babies will have a unilateral undescended testis. When this is picked up during the NIPE this needs to be noted in the red book and should be reviewed again by the GP during the NIPE infant screening at 6-8 weeks. If they still screen positive during this, then they should be re-reviewed by the GP at 4/5 months. If the testis remain undescended by then, a referral to surgery should be made and these babies need to be seen by no later than 6 months.
Babies with bilaterally undescended testes should be seen by a consultant paediatrician within 24 hours (1). This is to rule out disorders of sexual development and metabolic conditions.
Jaundice
Physiological jaundice can occur between 24 hours to 14 days after birth. It occurs due to an increased red blood cell turnover and impaired function of the enzyme used to conjugate bilirubin allowing for its excretion . This will cause an unconjugated hyperbilirubinemia. This is a mild, transient, and self-limiting condition, however may still require treatment.
Pathological jaundice is defined as jaundice due to an underlying condition. Any jaundice presenting in a baby <24 hours or >14 days old is classified as pathological.
Further, any conjugated hyperbilirubinemia, defined as conjugated bilirubin >25umol/L, of if >25% of total bilirubin is conjugated, is classified as pathological.
Causes of jaundice within 24 hours of birth:
- Haemolytic disease of newborn, COOMBS test positive (most common cause)
- Infection
- G6PD deficiency
- Hereditary spherocytosis
Pathological causes of jaundice > 24 hours of life
- Biliary atresia is the most common cause of conjugated hyperbilirubinemia.
- Congenital hypothyroidism (bilirubin metabolism slower)
- Cystic fibrosis (bile is thicker which can obstruct biliary system by getting stuck)
- Hypopituitarism (leads to cholestatic jaundice ?not sure why, hormone deficiency may prevent proper maturation of ducts)
- Gilbert’s syndrome
- Neonatal hepatitis
- Infection
Treatment
The mainstay treatment of hyperbilirubinemia in the neonate is phototherapy. This works by directing specific wavelengths of light to the skin which convert bilirubin into a water-soluble product that can be excreted directly without needing to be metabolised by the liver. For more severe cases exchange transfusions and immunoglobulins may form part of the treatment (5). See the page on Jaundice for more information
Complications
High levels of bilirubin in the blood can result in the formation of deposits in the brain resulting in encephalopathy (kernicterus). Long term complications include cerebral palsy, auditory dysfunction, dental dysplasia, and oculomotor impairment (6).
Birthweight
Low birthweight
Low birthweight (LBW) is defined as babies born weighing less than 2.5 kg (7). Low birthweight infants have a greater risk of mortality, long term neurological disabilities and developing chronic diseases. Hence, it is important to identify and manage the underlying cause.
Causes
- Prematurity
- Intrauterine growth restriction
- Maternal factors (poor nutrition, smoking, drug use, gestational diabetes)
- Multiple pregnancies
Management
Low birth weight infants may require management in the neonatal intensive care unit. They may require nutritional support such as specialised formulas or fortified breast milk to ensure optimal development and growth. Further these babies are more likely to experience difficulties in thermoregulation, hence may require incubators or heaters to maintain a stable body temperature. LBW infants are also more susceptible to infection hence infection control is a key aspect of managing these babies.
Macrosomia
Macrosomia is defined as a birthweight of greater than 4kg. Risk factors include maternal diabetes, maternal obesity, and genetic disorders such as Beckwith-Weiderman syndrome. Following delivery these babies may need to be monitored for macrosomia associated complications such as assessing for shoulder dystocia and regular blood sugar monitoring (8).
References
1. NHS Newborn Infant Physical Examination (NIPE) programme (2017) HEE elfh Hub. Available at: https://portal.e-lfh.org.uk/Component/Details/458974 (Accessed: 21 June 2023).
2. Heart murmurs in the neonate: an approach to the neonate with a heart murmur. (n.d.) NHSGGC Available at: https://www.clinicalguidelines.scot.nhs.uk/nhsggc-guidelines/nhsggc-guidelines/neonatology/heart-murmurs-in-the-neonate-an-approach-to-the-neonate-with-a-heart-murmur/
3. Russell, H. C., McDougall, V., & Dutton, G. N. (n.d.). Congenital cataract. The BMJ. https://www.bmj.com/content/342/bmj.d3075#:~:text=Congenital%20cataract%20is%20an%20important,and%20prevent%20irreversible%20visual%20impairment.
4. Sewell, D., Rosendahl, K., & Eastwood, D. (n.d.). Developmental dysplasia of the hip. The BMJ. https://www.bmj.com/content/339/bmj.b4454
5. Neonatal Jaundice – StatPearls – NCBI Bookshelf. (n.d.). National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/books/NBK532930/
6. Karimzadeh P, Fallahi M, Kazemian M, Taslimi Taleghani N, Nouripour S, Radfar M. Bilirubin Induced Encephalopathy. Iran J Child Neurol. 2020 Winter;14(1):7-19. PMID: 32021624; PMCID: PMC6956966.
7. Stanford Medicine Children’s Health. (n.d.). Stanford Medicine Children’s Health – Lucile Packard Children’s Hospital Stanford. https://www.stanfordchildrens.org/en/topic/default?id=low-birthweight-90-P02382
8. Macrosomia – StatPearls – NCBI Bookshelf. (n.d.). National Center for Biotechnology Information. https://www.ncbi.nlm.nih.gov/books/NBK557577/
Fig 1: A baby wearing a Pavlik harness that corrects hip dysplasia[/caption]
Fig 2: Newborn Baby having UVB phototherapy treatment for jaundice.[/caption]