Newborn screening

New born screening 

— For early detection and management of severe congenital metabolic disorders that when left untreated results in mental retardation or even death

RA9288 NBS act of 2004

— New born screening must be done 24-72 hours after birth

Heel prick

— Cut the heel of the newborn baby

— 4 drops of blot into a filter paper

— Air dried for 4-6 hours

— Sent to the lab before 24 hours

Falsely high TSH

False high 17 hydroxyprogesterone

= false positive for CH

False low galactose and phenylalanine 

= False - for galactosemia and phenylketonuria

Congenital Hypothyroidism

— Cretinism

— Lack or no T3 and T4

— Lack or no thyroid hormone

— Everything is decrease except weight and menstruation

— Hereditary conditions

— Underdevelopment of fetal thyroid glands

— Maternal Intake of anti-thyroid drugs during pregnancy 

— Deficiency in maternal iodine

— Girls are more prone to having this

Treatment for Congenital hypothyroidism 

— Hormone replacement therapy

— Drug of choice

— Synthetic Levothyroxine Sodium

• Synthroid

• Levothroid

— Regular measurement of t3, t4 and TSH

Congenital adrenal hyperplasia

— Adrenal gland enlarged

— Not able to produce cortisol but can produce other things

Cortisol

— Glucocorticoid

— Responsible for metabolism of glucose and protein

— Responsible for inflammatory process

— Necessary for uptake of glucose and protein

— Decreasing inflammatory response

Aldosterone 

— Mineralocorticoid 

— Renin angiotensin system, serum potassium and sodium levels

— Controls BP

Androgen 

— Responsible for muscular development

— Increase in linear size

— Body hair

— Sebaceous glands secretion

Congenital adrenal hyperplasia therapeutic management

— Oral hydrocortisone

— ACTH decreases —> androgen returns to normal limits 

Galactosemia

— Inborn error of carbo metabolism

— Abnormal amounts of galactose in blood and urine

— Galactose 1 phosphate uridyltransferase(GALT) = converts galactose to glucose

— Damage to brain, liver, and eyes

Buetler test

— Test the cord blood when the child is at risk

— Measures the level of affected enzyme in the RBC

— Galactosemia

galactosemia therapeutic management

— Eliminate all milk and lactose containing foods including breastmilk

— Milk substitutes: casein hydrolysates (NUTRAMIGEN)
— Baby cereals: 4-6 months

— Fruit juices and vegetables: 5-8 months

— Calcium and VIt D supplements should be given

Phenylketonuria

— Recessive trait

— Lack of phenylalanine hydroxylase(PAH)

— Assimilation of phenylalanine

— The build up of protein leads to a characteristic smell of the urine

— PHENYLPYRUVIC ACID

— Musty/mousy odor

— High levels cause brain damage

Gthre test

— Bascillus subtilis = grows in phenylalanine

• Normal: .5-1 mg/dl

• Phenylketonuria: above 4 mg/dl

— Phenylketonuria

Phenylketonuria

— Restriction of dietary protein

— LOFENALAC

— The goal is to maintain 8 mg/dl

Glucose 6 phosphate dehydrogenase

— Partial or complete deficiency in G6PD of the RBC

— Lack of this results in the destruction of the RBC when exposed to an oxidant

Congenital nonspherocytic hemolytic anemia

— Causes hemolysis, jaundice and and aplastic rises

Drug Induces G6PD

— Causes hemolysis approximately 2 days after exposure to medication

Blood smear/ electrophoretic test of RBC

— Heinz bodies