Genetics and Infant Screening - Home

Welcome! We are your genetics hub within the Iowa Department of Public Health. Established in 1976, we are continuously working toward creating state-of-the-art genetics programs. We house seven different programs under our roof, which can be explored under each category to the left. Together, we initiate, conduct and supervise genetic investigations, research and health care initiatives.

If you come across questions during your exploration, please do not hesitate to call us at 1-800-383-3826.

Notice of Intended Action May 18, 2022

Proposing rule making related to congenital and inherited disorders

and providing an opportunity for public comment

The Public Health Department hereby proposes to amend Chapter 4, “Center for Congenital and Inherited Disorders,” Iowa Administrative Code.

The Notice of Intended Action for amending Iowa Administrative Code 641 Chapter 4 may be found in the Iowa Administrative Bulletin published May 18, 2022 and available by clicking here.

Any interested person may submit written comments concerning this proposed rule making. Written comments in response to this rule making must be received by the Department no later than 4:30 p.m. on June 7, 2022. Comments should be directed to:

Kimberly Piper

Department of Public Health

Lucas State Office Building

321 East 12th Street

Des Moines, Iowa 50319


Spinal Muscular Atrophy (SMA) Added to the Iowa Newborn Screening Panel

Starting September 13, 2021, the Iowa Newborn Screening Program will be screening all newborns for the disorder, Spinal Muscular Atrophy (SMA).

SMA is an autosomal recessive inherited condition that results in progressive loss of the anterior horn cells (lower motor neurons) in the brainstem and spinal cord.  Loss of these motor neurons leads to progressive muscle weakness.  If babies with infantile onset SMA are not treated early in the disease, worsening weakness can quickly lead to failure to thrive and progressive respiratory muscle weakness.  Without treatment, the infantile form of SMA typically leads to death in the first two years of life. Untreated later-onset forms of SMA lead to physical disability due to progressive muscle weakness.  The incidence of SMA is estimated to be 1 in 6,000 to 1 in 10,000 live births in the United States.

The State Hygienic Laboratory at the University of Iowa will perform screening for SMA on all newborn screening specimens submitted to the Iowa Newborn Screening Program.  There are no changes needed for the specimen collection process which is currently used.  If an infant’s screen is abnormal for SMA, the Iowa Newborn Screening Program Follow-up staff will contact the infant’s primary care provider with further recommendations.  Recommendations for a presumptive positive SMA newborn screen result will include a referral to a neuromuscular specialist.

Dr. Katherine Mathews, Medical Consultant for the Iowa SMA Newborn Screening Program is encouraged by this advancement, “I am looking forward to having Iowa join the other states offering newborn screening for SMA. We are so happy to have specific medications for SMA and know that earlier treatment leads to better outcomes for children with this disorder.  Newborn screening has the potential for dramatic impact on the lives of affected babies.”

Iowa’s Newborn Screening Program is an evolving system which greatly impacts the lives of infants born in our state.  With continued efforts all newborns born in the state of Iowa will have the opportunity to live their lives to their full potential.

For additional information on SMA newborn screening:

Dr. Katherine Mathews, SMA Medical Consultant for the Iowa Newborn Screening Program, Presentation titled, “Newborn Screening for Spinal Muscular Atrophy” click on this link for the Youtube video.

Click here for Iowa SMA Fact Sheet for Parents

Click here for Iowa SMA Fact Sheet for Healthcare Providers

Click here for the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) SMA Communication Guide

Important Announcement Regarding Newborn Screening during the COVID-19 Crisis:

Newborn Screening Continues as an Essential Service

during the COVID-19 Outbreak

Hospitals, clinics and other facilities: Please forward to primary care clinicians, pediatricians, nursery staff, NICU physicians, laboratory staff, audiologists, and all other health care providers who might see newborns and infants.

Health care providers:
  • Continue all newborn screening; bloodspot, hearing (including congenital Cytomegalovirus), and CCHD (Critical Congenital Heart Disease) screening during the COVID-19 outbreak.
  • Continue follow-up testing as usual.
  • Follow Iowa Department of Public Health guidance to limit spread of infections to babies and mothers during screening.
Newborn Screening and COVID-19
The life-saving work of newborn screening continues during the COVID-19 outbreak. All obligations, laws, and Iowa Department of Public Health (IDPH) policies regarding collection of screening samples and completing hearing & CCHD screenings remain in place. Bloodspot collection and shipping to the State Hygienic Laboratory via the state courier service should continue as per protocol. Hearing and heart screening and reporting to IDPH should continue as per protocol.
  • All screenings should be done before discharge. If baby is discharged prior to 24 hours an additional bloodspot screen needs to be collected in clinic during the first week of life.
  • If a family declines newborn screening due to COVID-19, or chooses early discharge because of COVID-19, please have them sign the relevant refusal forms and submit to the Iowa Newborn Screening Program as you would typically. For refusal of hearing screening, please make a case note in the Iowa Newborn Screening Information System.
  • Newborn screening follow-up staff will make every attempt to get the newborn back in for blood spot collection or hearing screening when this public health emergency is over.
  • Assure the bloodspot collected is of good quality, to avoid needing a recollection of a satisfactory specimen.
  • Notification of abnormal lab results to primary provider/clinic by Iowa Newborn Screening Program staff will continue. When consultation with a specialist is advised, the primary physician should discuss with the specialist the best way to evaluate the baby given the community prevalence of COVID-19. Recommendations by IDPH for seeking consultation and follow-up remain in place.
  • Birthing hospitals will continue to notify the primary provider/clinic of a failed hearing screen, re-screen, or diagnostic assessment results. If the newborn does not pass the initial hearing screen, consider collecting a specimen for screening of congenital Cytomegalovirus (cCMV) prior to discharge.

  • IDPH will continue to request:
    • Recollection of unsatisfactory specimens
    • Repeat screening after borderline bloodspot results
    • Outpatient rescreening/diagnosis for hearing refer/did not pass result
    • Follow-up testing for failed pulse oximetry results

  • When possible, complete audiological testing prior to hospital discharge.
  • Be prepared to complete full audiological assessment at 1st outpatient appointment to avoid the need for multiple appointments.

This situation will be re-evaluated if the community prevalence of COVID-19 increases and clinics are encouraged to limit appointments for healthy newborns and infants.

For More Information