On August 2, 2022, the Secretary of Health and Human Services accepted the Advisory Committee on Heritable Disorders in Newborns and Children’s (ACHDNC) recommendation to expand the Recommended Uniform Screening Panel (RUSP) to include the addition of Mucopolysaccharidosis Type II (MPS II).
On January 4, 2023, the Secretary of Health and Human Services accepted the ACHDNC recommendation to expand the RUSP to include the addition of Guanidinoacetate methyltransferase (GAMT) deficiency.
As outlined in section 383.14 Florida Statutes, the Genetics and Newborn Screening Advisory Council (GNSAC) has one year to consider adding conditions to Florida’s screening panel once added to the RUSP.
Genetics and Newborn Screening Advisory Council
The Genetics and Newborn Screening Advisory Council (GNSAC) was held February 3, 2023, at the Bureau of Public Health Laboratories (BPHL)-Jacksonville. During the meeting, the GNSAC members received updates from Florida Newborn Screening (NBS) staff on an array of measures including annual statistics, hospital and midwife specimen collection and transport performance, as well as updates from Newborn Hearing Screening (NBHS) Program and the BPHL-Jacksonville.
Mucopolysaccharidosis type II (MPS II) was reviewed for consideration to add to Florida’s screening panel. Joseph Muenzer, MD, PhD, Director of the Muenzer MPS Research and Treatment Center at the University of North Carolina at Chapel Hill, provided an overview of MPS II to GNSAC. Following review and discussion of MPS II, GNSAC voted unanimously to add MPS II to Florida’s screening panel. As outlined in section 383.14, Florida Statutes, the NBS Program must implement screening within 18 months from GNSAC’s decision to add the condition.
The next GNSAC meeting will be held on August 18, 2023. For more information on upcoming GNSAC meetings and to review the minutes from past meetings, please click here.
Congenital Cytomegalovirus (cCMV)
Cytomegalovirus (CMV) is a common viral infection that is usually harmless, with most individuals experiencing no symptoms. When contracted during pregnancy, the virus can be passed to the newborn, resulting in congenital CMV (cCMV). cCMV can cause symptoms in infants including hearing loss and developmental disabilities, though most infants will remain without symptoms. cCMV is the leading non-genetic cause of hearing loss in infants born in the United States.
On January 1, 2023, targeted cCMV screening began for newborns who do not pass the hearing screening after birth. This new screening is intended to identify infants with cCMV and connect families with appropriate medical treatments, therapies, and long-term monitoring of possible symptom development.
Timing is Everything
More than 15 conditions on Florida’s newborn screening panel are time-critical, meaning that days, and sometimes hours, can make a difference in the health outcome of a newborn. A delay in the transit (shipping) of newborn screening (NBS) specimens causes an avoidable delay in the identification of and intervention for a potential health concern. In February 2015, the United States Department of Health and Human Services Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) formalized a series of recommendations regarding timeliness in newborn screening.
These recommendations included:
1. Initial NBS specimens should be collected in the appropriate time frame for the newborn’s condition but no later than 48 hours after birth, and
2. NBS specimens should be received at the laboratory as soon as possible, ideally within 24 hours of collection.
Top Performing Hospitals
Florida hospitals and non-hospital birth providers receive quarterly grades on the three newborn screening performance benchmarks:
- <1% of all specimens submitted are unsatisfactory for testing
- Specimens are received at Bureau of Public Health Laboratory (BPHL) – Jacksonville within three days of collection
- At least 90% of infants have critical congenital heart disease (CCHD) screening data reported.
See how Florida’s hospitals and non-hospital birth providers are performing by reviewing facility grades. View the NBS Grading Scale for more details.
CONGRATULATIONS to the top A+ hospitals for 2022 below:
- UF Health – North
- Baptist Medical Center – Jacksonville
- Sarasota Memorial Hospital
- Tampa General Hospital
Best Practice Tips
- All newborn screening (NBS) specimens should identify the provider who will care for the newborn after discharge. Provide the provider’s first and last name, and/or clinic name, and office phone number. If this information is missing, it could delay timely follow-up for out-of-range results.
- The newborn screening specimen card must be accurately completed in its entirety for every specimen collected. This includes the infant’s name, birth date and time, birth weight, collection date and time, and collection weight. If this information is not provided, testing may not be resulted correctly as some conditions are interpreted based upon age and/or weight at collection.
- Per NBS Protocols, all birth and collection facilities should document collection and monitor shipment of specimens. It is recommended that a photocopy be made of every specimen included in a shipment to be kept with shipping documentation to serve as a manifest for the facility’s records.