Newborn Screening Act and Disorders Flashcards

Comprehensive vocabulary flashcards covering Republic Act 9288, newborn screening protocols, timeline requirements, and metabolic disorders including CH, CAH, Galactosemia, PKU, and G6PD deficiency.

Republic Act No. 9288

Also known as the "Newborn Screening Act of 2004," enacted on April 7, 2004, to ensure every baby born in the Philippines undergoes newborn screening to prevent heritable conditions causing mental retardation and death.

April 7, 2004

The date Republic Act No. 9288 (The Newborn Screening Law) was enacted into law by the 12th Congress of the Philippines.

October 5, 2004

The date the Implementing Rules and Regulation (IRR) of Republic Act No. 9288 was signed by DOH Secretary Manuel Dayrit.

Manuel Dayrit

The Department of Health (DOH) Secretary who signed the Implementing Rules and Regulation (IRR) of RA 9288 on October 5, 2004.

Newborn Screening (NBS)

A public health program designed for the early identification of metabolic disorders that can lead to mental retardation and death if left undetected and untreated.

NBS Specimen Transport Timeframe

The requirement that a collected newborn screening specimen must be properly transported to an accredited Newborn Screening Center (NSC) within 24 hours.

Recall (Sec. 8 of IRR of RA 9288)

The mandated protocol where a newborn with a positive screening result is located and recalled for confirmatory testing with the assistance of attending health practitioners.

Patient Monitoring (Sec. 10 of IRR of RA 9288)

Regular follow-up and monitoring of patients confirmed to have metabolic disorders, performed by attending practitioners, appropriate sub-specialists, or Rural Health Units (RHU).

Congenital Hypothyroidism (CH)

A condition where the thyroid gland fails to secrete thyroid hormone or does not secrete it in sufficient quantities.

CH Effect if Untreated

Severe growth failure and mental retardation.

CH Golden Period

The timeframe of less than 4 weeks of age within which thyroid hormone replacement therapy must be initiated.

L-thyroxine

The synthetic thyroid hormone replacement used to treat Congenital Hypothyroidism, dosed at $5\text{ to }15\text{ }\frac{\text{μg}}{\text{kg}\times\text{day}}$.

Congenital Hypothyroidism Etiology

Caused by defective thyroid gland development, ectopic thyroid, maternal ingestion of anti-thyroid drugs or excessive iodine, or inherited enzyme deficiencies in thyroid hormone synthesis.

CH Neurologic Manifestations

Clinical signs in infants including lethargy, hoarse voice, or poor cry.

CH Gastrointestinal Manifestations

Clinical signs including constipation, feeding difficulties or poor suck, prolonged jaundice, and umbilical hernia (navel protrusion).

CH Diagnostic Tests

Evaluations comprising patient history, physical exam, thyroid function tests ($T_3$, $T_4$, $TSH$), X-rays of the ankle and knee, and a thyroid scan.

Congenital Adrenal Hyperplasia (CAH)

A disorder characterized by abnormalities in adrenal hormone production resulting in cortisol deficiency, aldosterone deficiency (in some cases), and excess androgen synthesis.

21-hydroxylase Deficiency

The primary inherited enzyme defect in Congenital Adrenal Hyperplasia that impairs synthesis of cortisol and aldosterone by the adrenal glands.

CAH Effect if Untreated

Death resulting from severe electrolyte imbalance or adrenal crisis.

CAH Golden Period

The 1st week of life, with salt-losing crises typically presenting between 7 and 14 days after birth.

Hydrocortisone

The lifelong corticosteroid replacement medication administered at $5\text{ to }15\text{ }\frac{\text{mg}}{\text{m}^2\times\text{day}}$ for Congenital Adrenal Hyperplasia.

CAH Manifestations in Female Infants

Abnormal external genitalia such as clitoral enlargement, fused labial folds, darkly pigmented labia, and presence of rugae.

CAH Manifestations in Male Infants

Enlarged penis, deeply pigmented scrotum, early growth spurt, and precocious secondary sexual features such as a deep voice and muscular build.

CAH Salt-Losers

Patients with low aldosterone levels who manifest with vomiting, dehydration, low blood sugar, or failure to gain weight within 7 to 14 days after birth.

Galactosemia (GAL)

An autosomal recessive carbohydrate metabolism disorder in which the body cannot break down or use galactose, leading to its accumulation.

GALT (Galactose-1-phosphate uridyl transferase)

The primary enzyme deficient in Galactosemia; defective genes coding for GALT cause toxic accumulation of galactose.

Galactosemia Effect if Untreated

Death or development of cataracts.

Galactosemia Golden Period

1 week after birth for initiating dietary restriction.

Galactosemia Clinical Presentation

Symptoms following milk ingestion including vomiting, diarrhea, feeding difficulties, jaundice, liver enlargement, sepsis, irritability, and poor weight gain.

Galactose-Free Dietary Management

Removal of milk and milk products (including breastmilk), substitution with soy-based milk formulas, and calcium supplementation.

Galactosemia Monitoring Schedule

Regular monitoring of total blood galactose levels performed at least quarterly.

Phenylketonuria (PKU)

An autosomal recessive amino acid metabolism disorder marked by elevated levels of phenylalanine in the blood or phenylketones in urine.

Phenylalanine Hydroxylase (PAH)

The liver enzyme responsible for converting phenylalanine; deficiency in PAH leads to Phenylketonuria.

PKU Effect if Untreated

Severe mental retardation and impaired brain development.

PKU Golden Period

3 weeks from birth to begin dietary restriction of phenylalanine.

PKU Physical Signs

Musty body odor, lighter skin and hair color, or eczema in an infant.

PKU Dietary Management

Strict limitation of dietary phenylalanine using special milk formulas and low-protein foods to keep levels non-toxic while supporting growth.

PKU Restrictions Mnemonic

"MEET DIRTY DAN'S NEW ENEMIES" — outlining prohibited high-protein foods: Meat, Dairy Products, Dry Beans, Nuts, and Eggs.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

An X-linked inherited red blood cell disorder characterized by hemolytic anemia due to a deficiency of the G6PD enzyme.

G6PD Enzyme Function

Produces nicotinamide adenine dinucleotide phosphate (NADPH), a reductant that protects red blood cells from oxidative stress.

G6PD Deficiency Untreated Outcome

Severe hemolytic anemia and kernicterus.

G6PD Triggers

Factors causing hemolysis in G6PD deficient individuals, including certain chemicals, drugs, infections, and fava beans.

Signs of Hemolysis in G6PD Deficiency

Pallor, difficulty of breathing, tachycardia, jaundice, backache, bone pain, irritability, splenomegaly, and tea-colored urine.

Ideal NBS Sample Collection Timing

Performed ideally between the 48th and 72nd hour of life, or at least 24 hours up to 2 weeks from birth.

NBS Timing for Premature and Sick Infants

Screening must be performed by the 7th day of life regardless of body weight and gestational age.

Consequences of Early NBS Collection (<24 hours)

Falsely elevated TSH (false positive CH), falsely elevated 17-OHP (false positive CAH), and falsely low galactose/phenylalanine (false negative Gal/PKU) due to inadequate feeding.

Heel Prick Method

The preferred blood collection method for newborn screening samples.

Specimen Collection Contraindications

Avoid using umbilical blood (high false positive/negative rates), collecting before 24 hours of life, or collecting after blood transfusion/TPN without noting it.

NBS Filter Card Guidelines

Fill out using block letters with black or blue ballpoint ink; do not use water-soluble ink pens and do not insert the filter paper into the patient's chart.

Valid Blood Spot Specimen Criteria

Sufficient blood quantity allowed to soak through to completely fill pre-printed filter circles without layering successive drops or smearing spots.