The “Newborn Screening for Phenylketonuria and Other Diseases,” Subpart 69-1 of Title 10 (Health) of the Official Compilation of Codes, Rules and Regulations, was revised and went into effect in February 2019. To inform healthcare providers of changes in the regulation, the newborn screening program will be conducting an educational webinar series. The regulation will be divided into six topics, each with its own webinar: 1) Collection, Shipping, Tracking and Resulting; 2) NICU Collection; 3) Requests for Repeat; 4) Process Improvement; 5) Referrals to Specialty Care Centers and 6) Birth Attendants. The webinar series will be conducted on Thursdays at noon starting on September 5, 2019 and continuing through October 17, 2019. Recordings of the webinars will be posted on the newborn screening website: https://www.wadsworth.org/programs/newborn/screening.

When completing mother’s address on the blood collection cards, please be sure to include the apartment number, if applicable. This information allows the newborn screening program to mail parents important information regarding their newborn in a timely manner.

The Hospital Contacts and Designee Form, which must be completed annually and whenever there are any changes in hospital staff/responsibilities, should now be submitted through the Health Electronic Response Data System (HERDS) application in the Health Commerce System. Directions for completing this form are on the newborn screening website: https://www.wadsworth.org/hospital-contacts-and-designee

Please note: Once the form is completed and saved, the hospital CEO must also log in and add the HERDS application to review and submit the form. Because the hospital CEO is responsible for assigning designees, they are the only person that can submit the form.

With the changes to the newborn screening regulations effective February 2019, samples are to be collected by 36 hours of age and the age at collection will be assessed using this timeframe on reports starting March 2019.  Please look for our webinar series coming this summer for more information.

As a reminder, be sure to place a UPS shipping label on the white Interior Security Pack.  If the pack is separated from the UPS envelope, specimens can still be delivered.

Please note: Some fields have now been removed from all screen negative newborn screen reports. These new reports are consistent with Clinical Laboratory Evaluation Program (CLEP) requirements.

The Weitzman Institute and the New England Regional Genetics Network recently began a five part “Genetics in Primary Care” webinar series which focuses on the application of genetics services to primary care practice. Newborn screening is the topic of the first two webinars. These webinars aim to describe the history of newborn screening and the significance of an abnormal result, discuss how new disorders are added, define the role of the primary care physician in the newborn screening process, and provide adapted case studies for review. If you are interested in viewing these webinars they are available at the following link: https://www.weitzmanlearning.org/our-services/genetics/previous-webinars/

New York State’s new regulations for newborn screening went into effect on February 13, 2019.

Included in these new regulations are:

• Specimens must be collected within 24-36 hours after birth and must be submitted to the laboratory within 24 hours after collection.
• All specimens should be air dried on a flat surface for at least 3 hours prior to forwarding to the testing laboratory.
• If a newborn is transferred to another hospital, the birth hospital must collect a specimen before transfer and notify the receiving hospital that a specimen was collected.  The receiving hospital will collect any repeat specimens required by the laboratory. If the newborn is less than 24 hours of age when the birth hospital collects the initial specimen, the receiving hospital will collect a repeat specimen 48-72 hours after birth.

Starting on December 1st the NBS program began using a new immunoassay to detect exposure to HIV antibodies. This new assay detects the presence of both HIV-1 and HIV-2 antibodies.

The last shipment of Newborn Screening UPS envelopes is currently being mailed out. Going forward, hospitals should order the standard UPS Windowed Express envelope (Item# 010195103) at no charge directly from UPS while in CampusShip. Instead of creating the label, click on “Quick Start” in the upper left-hand corner of the page. Then click on “Order Supplies.” Hospitals will need to provide UPS with their account number. If any problems/questions, contact UPS Customer Service at (800)-742-5877.

When completing blood collection cards please be sure mother’s contact information is up to date and written as neatly as possible. This information allows families of infants with emergency newborn screen results to be contacted quickly. If the card is inaccurate or incomplete it can delay necessary treatments.

New guidelines indicate specimens should be dried flat, away from light and heat, for 3 hours and placed in the white security packs before packing into the UPS envelopes.

Did you know that three new disorders are being added to the New York State panel? Starting on October 1, 2018, the program will begin screening for

• Spinal Muscular Atrophy (SMA), a neuromuscular disorder
• Guanidinoacetate Methyltransferase (GAMT) deficiency, a cerebral creatine deficiency disorder
• Mucopolysaccharidosis, type 1 (MPS-I/Hurler syndrome), a lysosomal storage disease

The addition of these disorders to the newborn screen will allow babies with these conditions to be detected and treated as early as possible.

Did you know samples sent by primary care providers in 2018 were received at the Newborn Screening Program an average of 6 days after collection? Many samples received from primary care providers after a request for a repeat sample are sent via US mail. Samples should be sent via an overnight courier, but due to the number of primary care providers, it is not feasible to set up newborn screening UPS accounts for them. Delayed repeat samples are a health risk for newborns. Also, samples received greater than 14 days from collection are not suitable for testing. We recommend hospitals develop a procedure to collect and ship requested repeat samples with other newborn specimens whenever possible to avoid delays.

The NBS Program receives samples on Saturdays, which are processed first thing Monday morning. Emergency results for these specimens are typically available on Monday. To ensure critical results are available as soon as possible, all shipments created EVERY Friday need to be scheduled for Saturday delivery.  When the shipping label is created in the UPS system, under “how would you like to ship, select the “Deliver on Saturday” check box. If this process is not followed, critical results may be delayed until Tuesday.

The monthly reports are intended to be a tool for continuous quality improvement and performance monitoring. We suggest hospitals use this tool to monitor the trends of their performance from month to month. If you notice a negative shift in your performance or your ranking, please thoroughly evaluate your newborn screening protocols and practices to identify improvement opportunities. Please note that ranking can be deceiving as many hospitals are now achieving 100% compliance with timeliness and specimen quality. Each month we receive many questions about these reports, including requests for additional information. As Mary Graziano has retired, please email these inquiries to NBSinfo@health.ny.gov to the attention of Rhonda Hamel and allow 1-2 weeks for a response. Please watch for additional information on frequently asked questions in the coming months.

If a repeat newborn screen is required due to unsatisfactory, borderline or indeterminate results, the hospital of birth is required to ensure that a repeat specimen is collected by the hospital or physician caring for the baby. If a repeat specimen is not obtained, the hospital of birth is required to submit written documentation to the Newborn Screening Program summarizing their efforts made to obtain a repeat specimen.

Do you call “Newborn Screening” the “PKU test”?

The test now screens babies for more than 40 conditions besides PKU. Calling it the PKU test can lead to confusion by parents and even lead to wrong follow-up testing after an abnormal screen for another condition.

As part of a quality improvement process, the Newborn Screening Program reviewed issues with incoming UPS envelopes from hospitals.

• Missing transport forms or similar specimen manifest
  • Increases the risk of unscreened infants
  • Decreases assurance that all listed specimens were received
  • Decreases your ability to recall infants if an envelope is lost in transit
• Envelopes stapled shut
  • Increases the risk of injury to NBS staff
• Individually enveloped/bagged specimens within a single envelope
  • Delays the processing of specimens

All hospitals should review their packing and shipping procedures. Issues will continue to be monitored with notification to non-compliant hospitals’ executive staff.

Don’t assume no news is good news.  We recommend birth hospitals and pediatric care providers have a system in place to track NBS results for each newborn.

Hospitals: Keep a log of each newborn’s Lab I.D. and the results of the screen. The newborn screening lab I.D. number should be communicated to the baby’s doctor as part of the discharge paperwork

Pediatric care providers: Check for the newborn’s result at the two-week visit.

There is no longer a need to wait until 24 hours after the first feeding to collect the first specimen from newborns.  This protocol is out of date and impacts turnaround times.  Collect first specimens 24-36 hours after birth.

Three specimens should be collected from premature (<2000 grams) and/or sick infants requiring care in the neonatal intensive care unit (NICU):

A specimen should be collected upon admission to a NICU or special baby care unit. Every effort should be made to obtain the specimen prior to red blood cell transfusion and/or administration of total parenteral nutrition.  Please only mark transfusion on the blood collection card if the infant was given red blood cells (RBCs) prior to specimen collection.
Collect a second specimen when the infant is 48-72 hours of age.  This specimen should be collected even if the infant had a RBC transfusion or was administered TPN.
A third specimen is required at discharge or 28 days of age, whichever comes first. 
If a specimen is not collected prior to RBC transfusion, a sample should be collected four months after the final RBC transfusion.

Congenital hypothyroidism is the most common disease identified by newborn screening.  Stanford Medicine developed a free online CME course on diagnosing and treating CH. Check out this important resource. https://med.stanford.edu/cme/courses/online/hypothyroidism.html

Please provide accurate information for the infant’s primary care physician on the blood collection card. We recommend identifying the infant’s anticipated primary care physician and asking for the physician’s phone number as part of the registration process.  When newborns have an emergency newborn screen result, this information is indispensable for getting them into care quickly.  This information can be life-saving.

Do you want to know how to be successful at collecting suitable specimens and meeting timeliness benchmarks?  NYMAC is conducting a regional survey to develop recommendations for best practices by looking for trends in practices and performance.  If you haven't completed the survey yet, please complete it at: https://www.surveymonkey.com/r/NYMACHospitalSurvey.

This survey was previously sent to the NBS coordinator at each hospital. Please work together to submit one entry only per hospital.

When submitting repeat specimens, please be sure to enter the previous LABID on the specimen collection form.
We encourage you to enter notes with case updates, view cases status (open/closed) and upload images by accessing an online application for communication about newborns with an abnormal newborn screen result.  “Case demographics” is one of the newborn screening applications available through the Health Commerce System.  If you aren’t currently using this application, email nbsinfo@health.ny.gov and request access.