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MARK EGLY

Add Alpha-1 to the Newborn Blood Panel

Identification at birth is overdue for a treatable genetic risk

By Mark Egly Foundation

Research status: Established clinical knowledge

Last reviewed: September 28, 2026

Every year nearly four million U.S. newborns already have a dried-blood-spot card drawn. Iowa screens 59 conditions. AATD is on neither the Iowa panel nor the federal Recommended Uniform Screening Panel (RUSP). That omission is no longer defensible.

This page is education and advocacy. It is not medical advice. Screening identifies children who need clinical follow-up. It is not a prescription to infuse every newborn with plasma Alpha-1 Antitrypsin (AAT), and it is not a claim that AAT is licensed for childhood cancer.

What established science already shows

(a) How AAT protects tissue. AAT is a serpin that restrains neutrophil elastase. SERPINA1 deficiency causes loss-of-function tissue protease injury and gain-of-function Z-protein retention in the liver.

(b) Diagnosis delay. More than 90% of severe AATD remains undiagnosed. Symptom-to-diagnosis delay is commonly cited at 8 to 10 years (Stoller 2026; Tomashefski / HCPLive, 24 Sep 2026).

(c) Swedish population screen (1972 to 1974). About 200,000 infants were screened. Pi*ZZ frequency was about 1 in 1,500. About 7% of Pi*ZZ infants had severe neonatal cholestasis. About 10% had milder early liver disease. About 70% of Pi*ZZ newborns had abnormal liver tests.

(d) Pediatric Pi*ZZ liver outcomes (2026 meta-analysis). In assembled series, fibrosis was about 41%, cirrhosis about 17%, and transplant about 11%.

(e) Neonatal cholestasis. AATD is a leading genetic cause of neonatal cholestasis after biliary atresia.

(f) Cascade family testing. An identified infant opens testing for parents, siblings, and other relatives who may carry disease alleles.

(g) Proven childhood lung intervention. The only fully proven lung intervention that starts in childhood is never starting smoking. Smoke-free homes and counseling matter most when the genotype is known early.

(h) Emerging liver therapies. RNAi and gene-therapy programs need identified children. Birth identification feeds registries and trial readiness.

Why now

  • The dried-blood-spot card is already drawn for nearly every U.S. newborn.
  • Sweden and Oregon proved that population testing for AATD is feasible.
  • The federal Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) terminated in April 2025, so states must lead.
  • Iowa has a statutory ad hoc panel committee, the State Hygienic Laboratory, and UI Stead Family Children's Hospital capacity.
  • Each delayed year is a missed birth cohort.

What screening is not

Screening is identification and a pathway to surveillance, counseling, and cascade testing. It does not authorize routine neonatal plasma AAT augmentation for every screen-positive infant. Adult labeled uses of plasma AAT do not include routine neonatal augmentation or childhood-cancer prevention.

Disclaimer

Educational content and advocacy only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.

Sources and references

References checked September 28, 2026

  1. Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
  2. American Thoracic Society / European Respiratory Society statements on lung disease (locate current AATD guidance) (American Thoracic Society)Research status: Established clinical knowledgeUse the current ATS/ERS AATD statements applicable to your practice.
  3. Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge

Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.