Newborn Screening and Specimen Collection Notes

Newborns are screened for metabolic and genetic defects via blood sample analysis on filter paper.
Screenings aid in early detection, diagnosis, and treatment of conditions like:
- Cystic fibrosis
- Hypothyroidism
- Phenylketonuria
- Galactosemia
- Other genetic disorders (e.g., biotinidase deficiency)
- Infectious diseases (e.g., HIV, Toxoplasmosis)

Blood spot testing should occur before the newborn is 72 hours old; if before 24 hours, a second specimen is needed up to two weeks of age.
Use specific state-required forms/cards with absorbent filter paper; check expiration dates.
Verify guardian's phone number on the form.
Typically performed as a capillary puncture on the infant's heel.

Properly identify the infant and complete all paperwork.
Avoid touching the filter paper.
Wash hands and don gloves.
Warm the infant's heel if necessary.
Cleanse the heel with antiseptic and allow to dry.
Puncture the heel with a semi-automated lancet (no deeper than 2 mm).
Wipe off the first drop of blood.
Allow a large blood droplet to form.
Touch filter paper to the blood drop, saturating each circle completely (visible from both sides).
Apply blood to only one side of the form.
Avoid touching skin with the card and do not blot or "color in" circles with multiple drops to prevent serum rings.
Do not use capillary tubes.

Air dry blood spots thoroughly for three hours at room temperature, away from sunlight and heat.
Do not allow wet filter papers to touch each other.
Mail dried state collection forms to the appropriate state laboratories with required paperwork.
Submit completed collection cards promptly for timely treatment of positive cases.