As future nurses, our role in the early detection and prevention of childhood disorders is essential. One of the most powerful tools we have is Newborn Screening (NBS)—a simple but life-saving procedure performed shortly after birth that can identify serious metabolic, genetic, and endocrine conditions before any symptoms appear.
Newborn Screening doesn’t just protect lives—it protects potential. As a nurse, you become an advocate for every newborn’s chance at a healthy, thriving life. This reviewer is designed to help you master the essentials, prepare for clinical duties, and succeed in your exams with confidence.
Let’s begin this journey of learning to save lives before sickness even begins
What is NBS?
· Simple heel prick test done 24–72 hours after birth.
· Detects inherited and metabolic disorders before symptoms start.
· Blood is collected on a filter paper and sent to a screening center.
How is NBS Done?
· The baby’s heel is cleaned and pricked with a tiny needle (lancet).
· A few drops of blood are collected on special filter paper (called a Guthrie card).
· The blood spots are dried and sent to a laboratory for testing.
Why is it Important?
· Most babies look normal at birth.
· Delays in diagnosis can cause permanent damage or death.
· NBS allows early intervention to prevent complications.
When is it Done?
· Best time: 48–72 hours after birth (but at least after 24 hours).
Where is it Available?
· Hospitals, lying-in centers, Rural Health Units (RHUs), and health centers.
· Home-delivered babies should be brought to a facility for NBS.
Who Collects It?
· Trained nurse, midwife, doctor, or medical technologist.
Results Timeline:
· Normal results: within 7 working days.
· Positive results: released within 24 hours.
What if positive?
· Immediate confirmatory testing
· Referral to specialist
· Begin treatment right away
Role of the Nurse in Newborn Screening
· Educate parents about NBS and disorders
· Ensure timely and proper collection of samples
· Advocate for newborns, especially in underserved areas
· Monitor results and initiate follow-up care
· Provide emotional support to anxious families
RA 9288 (Newborn Screening Act of 2004)
Why is it important?
· Early detection helps treat diseases before symptoms appear.
· Prevents disabilities and serious health problems.
· Saves lives by providing timely treatment.
· Ensures all babies have access to this important health service.
Disorder | Affected Organ | Treatment |
Congenital Hypothyroidism (CH) | Thyroid | Lifelong levothyroxine |
Phenylketonuria (PKU) | Brain | Low-phenylalanine diet |
Galactosemia (GAL) | Liver, eyes | No milk/lactose, soy formula |
G6PD Deficiency | Blood (RBCs) | Avoid triggers like fava beans, sulfa drugs |
Congenital Adrenal Hyperplasia (CAH) | Adrenal glands | Hormone replacement therapy |
Maple Syrup Urine Disease (MSUD) | CNS | Special low-protein diet |
1. Congenital Hypothyroidism (CH)
- Lack of thyroid hormone → risk of cognitive impairment if untreated
· Diagnostic Evaluation:
o Newborn T4 screening followed by TSH if T4 is low.
o Confirm with serum T4, TSH, and thyroid scans.
· Therapeutic Management:
o Lifelong levothyroxine sodium replacement.
o Maintain TSH between 0.5–2.0 mU/L during first 3 years.
· Nursing Care Management:
o Ensure early screening, especially in home births or early discharges.
o Educate parents on daily medication adherence, signs of hypothyroidism, and regular monitoring.
o Encourage breastfeeding; medication can be mixed with food or formula.
2. Phenylketonuria (PKU)
- Inability to break down phenylalanine → brain toxicity
· Diagnostic Evaluation:
o Guthrie test (heel prick); confirm with blood phenylalanine >4 mg/dL.
o Newer confirmatory methods: tandem mass spectrometry.
· Therapeutic Management:
o Low-phenylalanine diet using special formulas (e.g., Phenex).
o Strict dietary control for life to maintain phenylalanine levels (2–6 mg/dL in infants).
· Nursing Care Management:
o Teach parents strict food choices and how to prepare formula.
o Involve a dietitian and guide in monitoring blood levels.
o Avoid aspartame and educate on label reading.
o Support long-term adherence, especially in teens.
3. Galactosemia (GAL)
- Inability to process galactose → liver damage, sepsis, death
· Diagnostic Evaluation:
o Positive NBS; confirm with low GALT enzyme activity, galactosemia in blood, and galactosuria.
· Therapeutic Management:
o Lactose/galactose-free diet for life (soy-based formula recommended).
o Monitor for hypoglycemia, liver dysfunction, and sepsis.
· Nursing Care Management:
o Educate family on strict avoidance of milk and milk products.
o Monitor for signs of infection and ensure proper follow-up.
o Provide food lists and meal planning support.
4. G6PD Deficiency
- X-linked enzyme deficiency → oxidative stress leads to hemolysis
· Diagnostic Evaluation:
o Fluorescent spot test (fails to fluoresce = positive).
o Quantitative enzyme assays for confirmation.
· Therapeutic Management:
o Avoid oxidative triggers (certain meds, infections, fava beans).
o Supportive care; rarely requires transfusion.
· Nursing Care Management:
o Educate parents on trigger avoidance.
o Provide list of dangerous drugs/foods.
o Monitor for jaundice and hemolytic episodes.
5. Congenital Adrenal Hyperplasia (CAH)
- Hormonal imbalance → adrenal crisis or ambiguous genitalia
· Diagnostic Evaluation:
o Elevated 17-hydroxyprogesterone (17-OHP).
o Electrolyte testing (especially in salt-wasting types).
· Therapeutic Management:
o Lifelong steroid replacement therapy (glucocorticoids ± mineralocorticoids).
o Stress dosing during illness or surgery.
· Nursing Care Management:
o Teach signs of adrenal crisis and proper dosing.
o Encourage regular follow-ups with pediatric endocrinologist.
o Provide emotional and psychosocial support for the family.
o Coordinate referrals (e.g., for genital surgery decisions, counseling).
Other Disorders (Expanded Screening)
1. Hemoglobinopathies
Inherited conditions affecting the shape or function of red blood cells.
Diagnostic Evaluation:
Hemoglobin electrophoresis or molecular testing.
Therapeutic Management:
Depends on the type; may include transfusions, chelation therapy, or bone marrow transplant.
Nursing Care Management:
Monitor for anemia or infections, support treatment plan, educate family on disease progression.
2. Organic Acid, Amino Acid, and Fatty Acid Oxidation Disorders
Inherited metabolic disorders causing toxic buildup in the body.
Diagnostic Evaluation:
Tandem mass spectrometry; urine organic acid analysis.
Therapeutic Management:
Dietary modifications, carnitine supplements, emergency protocols during illness.
Nursing Care Management:
Educate parents on emergency care, avoid prolonged fasting, support metabolic team follow-up.
3. Biotinidase Deficiency
Inability to use biotin (vitamin B7), leading to developmental delays and skin issues.
Diagnostic Evaluation:
Serum biotinidase activity assay.
Therapeutic Management:
Daily biotin supplementation.
Nursing Care Management:
Ensure treatment adherence, monitor development, educate about lifelong supplementation.
4. Cystic Fibrosis (CF)
Genetic disorder affecting lungs and digestion due to thick mucus buildup.
Diagnostic Evaluation:
IRT test (immunoreactive trypsinogen), sweat chloride test, DNA analysis.
Therapeutic Management:
Airway clearance, pancreatic enzymes, high-calorie diet, antibiotics.
Nursing Care Management:
Promote respiratory hygiene, ensure medication compliance, support family coping.
5. Severe Combined Immunodeficiency (SCID)
Profound immune deficiency → high infection risk.
Diagnostic Evaluation:
T-cell receptor excision circles (TREC) test, flow cytometry.
Therapeutic Management:
Bone marrow transplant, immunoglobulin therapy, infection prevention.
Nursing Care Management:
Enforce infection control, educate about avoiding exposure, support isolation precautions.
6. Critical Congenital Heart Disease (CCHD)
Serious heart defects affecting oxygen flow in the body.
Diagnostic Evaluation:
Pulse oximetry screening, echocardiography.
Therapeutic Management:
Medications, oxygen therapy, early surgery.
Nursing Care Management:
Monitor oxygen levels, provide post-op care, support family through treatment process.
Infant Complications Related to NBS
1. Growth Failure (Failure to Thrive – FTT)
Poor weight gain due to intake, absorption, or metabolism issues.
Diagnostic Evaluation:
Growth charts, dietary and feeding history.
Therapeutic Management:
Nutritional support, treat underlying cause.
Nursing Care Management:
Assess feeding techniques, monitor weight, educate caregivers on proper nutrition.
2. Colic
Excessive crying and abdominal discomfort in infants.
Diagnostic Evaluation:
History and observation; rule out organic causes.
Therapeutic Management:
Supportive care, possible formula changes.
Nursing Care Management:
Reassure and support parents, assess feeding and comfort techniques.
3. Sudden Infant Death Syndrome (SIDS)
Unexpected infant death during sleep.
Diagnostic Evaluation:
Post-mortem and environmental investigation.
Therapeutic Management:
Prevention-focused (no specific treatment).
Nursing Care Management:
Educate on safe sleep practices (Back to Sleep, no soft bedding), no smoking, provide emotional support.
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