48^th Global Nursing and Healthcare Congress

Nursing care for Infants and Children

Nurses who provide direct patient care at the bedside spend the most time with patients among all healthcare providers, and as a result, they may be the first to notice subtle dysmorphic features in infants and children with congenital heart disease (CHD) and potentially undiagnosed genetic conditions. A child with a few large and/or mild congenital defects should be suspected of having a genetic disease. The CHARGE syndrome, 22q11.2 deletion syndrome, and VACTERL connection are defined and illustrated in this article, as well as the assessment findings and nursing management of these three genetic diseases linked to CHD. Pediatric nurses can better explain abnormal physical examination findings to the healthcare team and advocate for appropriate referrals if they have a firm awareness of these anomalies. It is possible to prevent complications and enhance patient outcomes by facilitating early diagnosis and management.

CHD is the most prevalent kind of birth defect, affecting almost 1% of all newborns born in the United States each year (Centers for Disease Control and Prevention [CDC], 2018a). CHD is also the primary cause of infant morbidity and mortality related with birth defects (CDC, 2018a). Many children and newborns with CHD are also diagnosed with genetic disorders. When dysmorphisms are modest or have not fully emerged phenotypically, it is difficult to recognise dysmorphic traits. Nurses who offer direct patient care at the bedside spend more time with patients than any other healthcare practitioner, making them uniquely qualified to spot patterns of severe and minor congenital defects linked to certain genetic illnesses. Early detection and diagnosis of a genetic condition can lead to specialised testing, which can help prevent further complications.