PreventiNe New Born Screening

Genetic

Report in 100Hrs

At Home

No Fasting Required

Details

Expanded NBS by TMS/genetics.

₹4,144₹5,920

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PreventiNe New Born Screening

Why is it done?
- Early detection of inherited metabolic, genetic, and functional disorders in newborns within the first 24-48 hours of life
- Screening for conditions including phenylketonuria (PKU), congenital hypothyroidism, sickle cell disease, hemoglobinopathies, and other life-threatening metabolic disorders
- Prevention of intellectual disability, developmental delays, and other serious health complications through early intervention and treatment
- Universal screening program performed on all newborns as a standard part of routine postnatal care
- Performed between 24-72 hours after birth, ideally before hospital discharge
Normal Range
- Negative/Normal Results: All screened metabolic and endocrine parameters fall within reference ranges; no significant elevated markers detected; no hemoglobinopathies present
- Normal TSH (Thyroid Stimulating Hormone): Typically <5-10 mIU/L (varies by laboratory); indicates normal thyroid function
- Normal Phenylalanine (PKU screening): <2-4 mg/dL; elevated levels suggest phenylketonuria
- Normal Hemoglobin Pattern (AA): No sickle hemoglobin (S) or other abnormal hemoglobinopathies detected
- Units of Measurement: Amino acids and organic acids measured in mg/dL or μmol/L; hormones in mIU/L or ng/dL; hemoglobin patterns by percentage or electrophoresis
Interpretation
- Negative Result: No evidence of screened metabolic or genetic disorders; baby is at low risk for conditions tested; normal newborn follow-up care recommended
- Positive/Abnormal Result: One or more screened parameters outside normal range; requires immediate confirmatory testing; indicates probable genetic or metabolic disorder
- Elevated TSH (>10-20 mIU/L): Suggests congenital hypothyroidism; requires immediate thyroid hormone supplementation to prevent intellectual disability; repeat testing may be needed
- Elevated Phenylalanine (>4 mg/dL): Indicative of phenylketonuria (PKU); early dietary management with phenylalanine-restricted formula essential; prevents severe neurological damage
- Abnormal Hemoglobin Pattern (SS, SC, S-Beta Thal): Consistent with sickle cell disease or sickle cell trait; requires specialized hematology follow-up, genetic counseling, and disease management
- Factors Affecting Results: Timing of collection (ideally 24-72 hours post-delivery); inadequate blood spot; recent transfusion or antibiotics; prematurity; illness; hemolysis; improper sample handling
- False Positive Results: May occur in premature infants, ill newborns, or due to technical errors; confirmatory testing essential to rule out actual disease
Associated Organs
- Primary Organ Systems Involved:
  - Endocrine system (thyroid gland) - for hypothyroidism screening
  - Nervous system (brain, spinal cord) - affected by metabolic disorders
  - Hematopoietic system (blood and bone marrow) - for hemoglobinopathies
  - Liver and kidneys - affected by metabolic disorders
- Diseases Screened:
  - Phenylketonuria (PKU) - inherited metabolic disorder causing intellectual disability if untreated
  - Congenital Hypothyroidism - thyroid dysfunction causing growth and developmental delays
  - Sickle Cell Disease - genetic hemoglobinopathy causing vaso-occlusive crises and organ damage
  - Other Hemoglobinopathies (thalassemia, hemoglobin C disease) - affecting oxygen transport
  - Galactosemia - galactose metabolism disorder causing cataracts and liver damage
  - Maple Syrup Urine Disease (MSUD) - branched-chain amino acid disorder causing neurological damage
  - Homocystinuria - homocysteine metabolism disorder causing vascular complications
- Potential Complications of Untreated Abnormal Results:
  - Severe intellectual disability and developmental delays
  - Seizures and neurological complications
  - Acute life-threatening metabolic crises
  - Organ damage (liver, kidney, spleen)
  - Chronic pain, stroke, and vaso-occlusive episodes (in sickle cell disease)
  - Death if disorder goes undetected and untreated
Follow-up Tests
- If Positive Screening Results:
  - Confirmatory second heel prick blood test (within 24-48 hours of abnormal initial result)
  - Serum thyroid function tests (TSH, Free T4) for congenital hypothyroidism confirmation
  - Plasma amino acid analysis for PKU and other amino acid disorders
  - Hemoglobin electrophoresis or high-performance liquid chromatography (HPLC) for hemoglobinopathy confirmation
  - Genetic testing and molecular analysis as indicated
- Ongoing Monitoring After Confirmed Diagnosis:
  - For PKU: Regular plasma phenylalanine levels (monthly initially, then quarterly to annually); dietary protein monitoring
  - For Congenital Hypothyroidism: Serum TSH and Free T4 testing at 2 weeks, 1 month, 3 months, then periodically; thyroid hormone dosage adjustment as needed
  - For Sickle Cell Disease: Hematology specialist evaluation; periodic hemoglobin and reticulocyte counts; regular clinical assessments
  - For all positive findings: Genetic counseling for family members; developmental and neurological assessments as appropriate
- Complementary Diagnostic Tests:
  - Thyroid ultrasound (for congenital hypothyroidism)
  - Neurodevelopmental assessments and cognitive testing
  - Abdominal ultrasonography (for hepatosplenomegaly in metabolic disorders)
  - Metabolic panel including liver and kidney function tests
- Repeat Testing: Recommended if initial sample inadequate; if results borderline; or if clinical symptoms develop despite negative initial screening
Fasting Required?
- Answer: NO - Fasting is NOT required for PreventiNe Newborn Screening
- Timing Considerations: Test performed between 24-72 hours after birth; infant should have received at least 2-3 feeds to ensure adequate metabolite levels for accurate screening
- Special Instructions:
  - Heel stick blood sample collection on standardized filter paper card
  - Infant should be in a calm state if possible to ensure adequate blood flow for proper saturation of filter paper circles
  - Both sides of filter paper card must be completely saturated with blood
  - Allow filter paper to air dry completely (at least 3-4 hours) before submission
  - Protect filter paper from moisture, direct sunlight, and extreme temperatures during storage and transport
- Medications - No Restrictions: No medications need to be withheld; however, certain medications may affect test interpretation (notify healthcare provider of any maternal or neonatal medications)
- Other Preparation:
  - Parental consent and education about the screening process and potential results
  - Ensure accurate infant identification on filter paper card to prevent errors
  - Avoid contamination of blood spot with lotions, oils, or other substances
  - Arrange expedited laboratory processing and parental notification of results

How our test process works!