NCMA 219 CU6B

• October 1-7 - National Newborn Screening Week.
• Republic Act 9288 / Newborn Screening Act of 2004.
• June 27, 1996 - Newborn Screening Project in 24 selected hospital (18 private and 8 government).
• January 20, 2004 -  Issuance of Pres. Proclamation No. 540 declaring first week of October of each year as National NBS Awareness Week.
• April 7, 2004  - Declaration of RA. 9288 NBS Act of 2004.
• January 22, 2006 - Inclusion of NBS in the licensing requirement of Philippine hospitals.
• December 2007 - Inclusion of NBS in Philhealth NB Care Package.
• January 2012 - MSUD inclusion in the NBS panel of disorders.
• December 2014 - (Expanded NBS) inclusion of mote than 20+ disorders in the NBS panel of disorders.
• January 2019 - Full coverage of ENBS in PhilHealth NB Care Package.
• NEWBORN SCREENING - Is a simple procedure to find out if a baby has congenital metabolic disorder that may lead to mental retardation and even death if left untreated.
• IN TERM BABY NEWBORN SCREENING is perform at 48 to 72 hours after birth / at least 24 hours after birth.
• INFANT IN NICU - NBS should be done before 7 days of life.
• Newborns are also screened for hearing disorders and certain serious heart problems using methods other than dried blood spots.

   
• HOW TO PERFORM NBS?

  • Performed by trained health care personnel.
  • Prick the heel.
  • Dry the paper at least 4 hours.
• WHEN ARE NEWBORN SCREENING RESULTS  AVAILABLE?

  • Seven working days from the time the newborn screening samples are received parents should claim the results from their physician, nurse, midwife or health worker.
  • Any laboratory result indicating an increased risk of a heritable disorder shall be immediately released, within twenty-four (24) hours, so that confirmatory testing can be immediately done
• NBS POSITIVE RESULT - proceed on confirmatory testing. If the result remains positive referral to specialist should be done.
• NBS NEGATIVE RESULT - it means normal.
• CONDITIONS THAT CAN BE DETECTED BY NEWBORN SCREENING:

  • Congenital Hypothyroidism
  • Congenital Adrenal Hyperplasia
  • Galactosemia
  • Phenylketonuria
  • Glucose-6-Phosphate-Dehydrogenase Deficiency (G6PD Deficiency)
  • Maple Syrup Urine Disease (MSUD)
• Most babies with metabolic disorders look normal at birth. One will never know that the baby has the disorder until the signs and symptoms are manifested. By this time, irreversible consequences are already present.
• 1. If the screening detects one or more conditions, the result is "positive" or, more accurately, "out of range."

  • The child's health care provider will notify the parents, usually within 2 to 3 weeks, if the results are out of range.
• OUT OF RANGE - This result does not mean the child definitely has the condition detected.

  • Sometimes, the tests produce a "false positive," meaning that even though the test result was positive, the infant does not actually have the disease.
  • If the test result is positive, it is very important for the infant to undergo additional testing right away to confirm and diagnose any specific condition(s).
• • Screening tests and diagnostic tests are not the same.
  • If a baby is diagnosed with a condition, his or her health care provider and other providers will recommend a course of treatment.
• CONGENITAL HYPOTHYROIDISM - It is the decreased of thyroid hormone that is essential for physical and mental development.
• CONGENITAL HYPOTHYROIDISM - If this condition is not diagnose and left untreated within 2 weeks. The newborn will suffer growth restriction or severe mental retardation .
• Congenital hypothyroidism can be either permanent or transient.
• Transient CH is frequently associated with maternal Graves disease that was treated with antithyroid drugs.
• MODE OF TRANSMISSION:

  • Autosomal Recessive Transmission - Usually sporadic.
• • The most common pathogenesis is thyroid dysgenesis. Worldwide, the most common cause of CH resulting in hypothyroidism is iodine deficiency