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Examination of the Newborn


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low risk factions. However, a positive family history does correlate with a higher incidence (Romano‐Zelekha et al. 2001).

      The use of pulse oximetry may complement the clinical examination and may improve the detection rate of critical CHDs for some newborns. There is increasing evidence to support the use of pulse oximetry as an adjunct to the newborn examination (Knowles et al. 2005; Thangaratinam et al. 2007; Valmari 2007; Ewer et al. 2012), thereby increasing the sensitivity of this screening tool overall. See Chapter 2 for further information on the use of pulse oximetry during the newborn examination.

      Increased risk of cardiac anomalies related to newborn

       Sibling: Recurrence of 2–3% in a subsequent sibling increasing to a 50% recurrence rate in three affected siblings.

       Parental cardiac anomaly: 2–5% risk to infant.

       Maternal diabetes: 2% risk to infant particularly in uncontrolled diabetes.

       Drug‐related teratogens: For example, phenytoin, 2% risk to infant (adapted from Sharland 2010).TABLE 1.4 Predictive risk factors with potential impact upon newborn outcome including the NIPE Programme national risk factors.Source: Adapted from the NIPE Screening Programme Handbook (2020c) and cited references.The four NIPE screening elements and othersRisk factorsSpecific conditionIntergenerational trait statusHipsFirst‐degree relative with DDH (national NIPE Programme risk factor) Risk factors: persistent breech presentation or breech delivery (national NIPE Programme risk factor)Developmental dysplasia of the hipsPositive Eyes First‐degree relative with congenital eye condition (national NIPE Programme risk factor) Congenital cataracts if syndrome associated Glaucoma RetinoblastomaPositiveHeartFirst‐degree relative with CHD (national NIPE Programme risk factor) Major CHD on fetal anomaly scan (national NIPE Programme risk factor) Previous SIDSCongenital heart defect Cardiac conduction mechanism disorders, e.g. prolonged QT syndrome, Wolf–Parkinson–White syndromePositive (dependent on cause)TestesFirst‐degree relative with cryptorchidismUnilateral or bilateral undescended testes – bilateral very significantPositiveSignificant othersSiblings First‐degree relative IntergenerationalChromosomal aberrations Genetic disorders Structural anomalies Syndromes Inborn errors of metabolismPositiveFirst‐degree relative First‐degree relative (sibling)Severe congenital hearing deficit Jaundice treated with phototherapyPositive PositiveFirst‐degree relativeAtopy: Dermatitis Eczema Epidermolysis bullosaPositiveFirst‐degree relativeAsthmaPositive (multifactorial variables – genetic, environmental)IntergenerationalHaemoglobinopathies, e.g. thalassaemia, sickle cell diseasePositiveFirst‐degree relativeTongue tiePositiveIntergenerationalMarfan syndromePositiveIntergenerational/first‐degree relativeMyasthenia gravisPositive

        Intrinsic fetal anomalies: Incidence increased in the presence of other fetal structural or chromosomal anomalies, e.g. the triad of trisomies 21,18 and 13.

       Transplacental viral transmission: Increased risk of CHD.

       Parental consanguinity: Increased risk of CHD (Ramegowda and Ramachandra 2006; Khalid et al. 2006).

       Psychotropic drugs: Teratogenic and newborn effects, e.g. paroxetine may increase the risk of ventricular septal defect, lithium may increase the risk of Ebstein's anomaly.

      Other conditions of parental concern

      Other common traits within families are atopy and asthma (Moore et al. 2004; Wadonda‐Kabondo et al. 2004). These conditions can be of concern to parents and are often raised at the time of the newborn examination. Devereux et al. (2002) reported that maternal environmental factors could influence the fetal immune system and thus neonatal immunity, resulting in an increased risk of atopy and asthma. Similarly, Moore et al. (2004) cited ethnicity, gender, gestational age at birth and family history, particularly maternal, as factors influencing the development of atopic dermatitis within the first 6 months of life. Such findings can confirm the genetic disposition of these disorders.

      SMaRT 4 NIPE (S4N)

      The NIPE Screening Management and Reporting Tool (SMaRT 4 NIPE) (S4N) IT system aims to identify babies with congenital conditions of the eyes, heart, hips or testes. Initial checks are undertaken within 72 hours of birth as part of the ‘head‐to‐toe’ – the ‘newborn’ part of the physical examination. The purpose of the examination is to identify babies likely to have conditions that may need further monitoring, investigation or treatment. However, as some conditions can develop later, the examination is repeated at 6–8 weeks of age ‐ the ‘infant’ part of the physical examination.

      S4N provides a field containing the six national risk factors mapped to the UK NSC Antenatal and Newborn Screening Programme. The NIPE standards stipulate that ‘family history’ should be confined to a first‐degree relative (PHE 2018a). Additional local risk factors, e.g. BCG vaccination requirement, maternal GBS infection, sibling with jaundice at birth, can be added to the local risk factor menu for each individual maternity unit. Table 1.5 outlines the NIPE Programme national risk factors (PHE 2018a) and an example of additional local risk factors.

      The system provides data collection for audit purposes and the provision of key performance indicator (KPI) data against the NIPE National Standards screening elements for quality assurance purposes and local performance monitoring. More importantly, S4N provides a failsafe system and a consistent means of capturing data and tracking newborn babies throughout the screening pathway to ensure that no babies miss out on this detailed physical examination. Provision of a failsafe process for examinations not offered or missed, as well to track children through the health care system, makes it possible to ensure that any required follow‐up is timely and in line with national guidance. The safety net for additional screening remains with the examiner at the time of the newborn examination to determine any further element of risk with the clinical assessment.

       TABLE 1.5 Summary of defined and national risk factors.

NIPE Programme national risk factors Additional defined risk factors
Antenatal diagnosis of a cardiac abnormality Maternal GBS positive status in current pregnancy/risk of early onset neonatal infection
Antenatal diagnosis of a trisomy Meconium stained liquor present in labour
First‐degree relative with DDH or hip problem in infancy or childhood Risk of haemolytic disease in the newborn
Breech presentation at birth or after 36 weeks’ gestation Sibling with neonatal jaundice requiring phototherapy
First‐degree relative with a cardiac abnormality Neonatal BCG vaccine required
First‐degree relative with a childhood eye condition

      There is a national requirement for the NIPE practitioner to enter screening and post‐referral outcome information for the four screening elements of the examination – eyes, heart, hips and testes – to improve programme reporting and assure a safe and effective screening pathway.