👶 Newborn Screening

Congenital metabolic disorders

Disorders detectable through newborn screening that can lead to severe health issues if left untreated.

Heel stick

A method of blood collection from newborns for screening purposes.

Newborn Screening Act of 2004

Republic Act 9288 that mandates newborn screening for certain disorders.

Expanded screening in 2012

Inclusion of 22 more disorders in newborn screening.

Congenital Hypothyroidism (CH)

A condition with insufficient thyroid hormone production, detectable in newborn screening.

Congenital Adrenal Hyperplasia (CAH)

Inherited disorders affecting adrenal gland enzyme function, leading to hormonal imbalances.

Phenylketonuria (PKU)

A metabolic disorder caused by the inability to metabolize phenylalanine.

G6PD deficiency

A genetic disorder causing a deficiency in the G6PD enzyme, leading to hemolytic anemia.

Galactosemia

An autosomal recessive genetic disorder preventing proper galactose metabolism.

Maple Syrup Urine Disease (MSUD)

A metabolic disorder characterized by incapacity to metabolize certain amino acids.

False positives in screening

Results that indicate a condition is present when it is not.

Nursing management for newborn screening

Includes educating families and ensuring proper sample collection.

IQ loss in CH

Directly related to the time treatment is initiated after diagnosis.

Biochemical indicators for PKU

Elevated levels of phenylalanine in the blood detected through newborn screening.

Dietary management of PKU

Involving a low-phenylalanine diet, avoiding high-protein foods.

Patient education in Nursing Management

Teaching families about dietary restrictions for conditions like PKU and Galactosemia.

Symptoms of Galactosemia

Jaundice, vomiting, lethargy, and poor feeding shortly after birth.

G6PD deficiency causes

Triggers include certain foods, drugs, and infections leading to hemolysis.

Diagnosis of G6PD deficiency

Based on blood tests measuring enzyme activity levels and CBC.

Management of FAODs

Includes dietary modification and emergency treatment strategies.

Organic Acid Disorders Definition

Genetic conditions due to enzyme deficiencies affecting organic acid metabolism.

Cystic Fibrosis (CF) cause

Mutations in the CFTR gene affecting ion transport in epithelial cells.

Severe Combined Immunodeficiency (SCID)

Absence or dysfunction of T and B lymphocytes due to inherited disorders.

Critical Congenital Heart Disease (CCHD)

Severe congenital heart defects requiring immediate medical attention.

Growing failure (Failure to Thrive - FTT)

Inadequate growth or weight gain in infants, indicating insufficient caloric intake.

Colic Definition

Excessive crying in an otherwise healthy infant, often in patterns.

Sudden Infant Death Syndrome (SIDS)

Sudden and unexplained death of an otherwise healthy infant during sleep.

Legal framework in newborn screening

Mandated by laws like Republic Act 9288.

Management of Galactosemia

Elimination of lactose and galactose from diet and monitoring galactose levels.

Diagnosis of CAH

Involves measuring 17-hydroxyprogesterone levels in newborns.

Symptoms of G6PD deficiency

Fatigue, jaundice, dark urine, and shortness of breath.

Management strategies for PKU

Frequent blood tests to monitor phenylalanine levels.

Symptoms of SIDS

Absence of distress or struggle prior to death in infants.

Diagnosis of SCID

Newborn screening for severe lymphopenia and immunological testing.

Complications of CF

Chronic lung infections and pancreatic insufficiency.

Management of FTT

Nutritional support and treatment of underlying medical conditions.

Symptoms of colic

Intense crying, inconsolable behavior, and signs of discomfort in infants.

Biotinidase deficiency treatment

Lifelong oral administration of biotin supplements.

Pathophysiology of hemoglobinopathies

Mutations in hemoglobin genes causing abnormal hemoglobin molecules.