Newborns Screenings

Most babies appear healthy and show no signs of illness right after birth. However, some infants may be born with certain heritable diseases that can lead to disability or death. When detected early, many of these disorders can be managed and can prevent the occurrence of adverse health outcomes. The Georgia Newborn Screening (NBS) Program is designed to identify and provide early treatment for 31 selected inherited disorders that otherwise would cause significant morbidity or death.To view the complete list of disorders screened for in Georgia, please click here.


 Optional Krabbe Screening Mandate:

MEMORANDUM

TO:        Medical Providers within the State of Georgia

FROM:   Newborn Screening Program

RE:        Optional Krabbe Screening

DATE: December 21, 2017

Background: The Georgia Newborn Screening (NBS) Program screens for over 40 primary and secondary conditions.  Krabbe disease is a very rare condition that can cause severe neurological problems or even death. It is not currently included on the state or national NBS panels. In the spring of 2017, the Georgia General Assembly mandated that parents be made aware of their option to have their infants screened for Krabbe disease at birth.

Program Update: The Georgia Newborn Screening program has partnered with genetic specialists in the state to develop educational materials about optional Krabbe screening. This information has been added to the NBS brochure and disseminated to birthing facilities and health departments across the state.

Parents are encouraged to work with their providers to establish a plan for Krabbe screening before the birth of their child. It is important that the Krabbe specimens are collected within a few days of birth and sent immediately to the chosen screening lab.  More information on optional Krabbe screening, including a list of accredited laboratories, can be found at the following website https://dph.georgia.gov/NBS.

Impact: Parents may request more information about Krabbe disease and their option for screening.  The recently issued NBS brochure provides parents with information about Krabbe screening as well as contact information for the NBS program.

Timely response to an abnormal screening result is critical. If a patient receives an abnormal result for Krabbe screening, their provider should immediately contact the geneticist or call through the CHOA (Children’s Healthcare of Atlanta) paging service at 404-785-7778 to get guidance.

If you have additional questions or would like to request NBS brochures for your office, please contact Judith Kerr, Child Health Screening Program Manager, at 404 657 2878 or Judith.Kerr@dph.ga.gov


Obtaining Newborn Screening Results:

SendSS: State Electronic Notifiable Disease Surveillance System: Authorized providers can access unofficial copies of newborn screening results on-line through the State Electronic Notification Surveillance System (SendSS). To register for SendSS, visit https://sendss.state.ga.us/sendss/login.screen and fill out the online registration form.

eReports: Official results for newborn screens received after July 11, 2011 through the present can be retrieved by authorized medical providers through the eReports web portal located at https://ereports.ga.gov/dph/eReports/weblogin.aspx?MsgNum=0&Locale=1033. This web-based system enables registered providers to access screening test results 24 hours a day/7 days a week. To ensure confidentiality and security, a username and password is required to access the system.


Newborn Blood Screening Follow-up Programs:

The NBS follow-up programs are responsible for locating the infant with the abnormal result and contacting the health care provider listed on the NBS card to report the abnormality, delivering education and resources about the condition, and providing recommendations on how to proceed.

Metabolic and Endocrine Follow-up: The Emory University Department of Human Genetics Follow-up Program is responsible for following up on abnormal screens for metabolic disorders, endocrine disorders, cystic fibrosis, and severe combined immunodeficiency (SCID).

Contact Information

NBS Follow-Up Program: (404) 778-8560

Metabolic Nutritionist: (404) 778-8566

Physician-on-Call (pager for nights and weekends): (404) 785-7778

The Medical Nutrition Therapy for Prevention Program (MNT4P) within the Emory University Department of Human Genetics bridges the coverage gap for patients within inherited metabolic disorders within the state of Georgia. MNT4P provides medical foods, low-protein modified foods, treatment-related supplies and support, and insurance navigation.  Click here for the application. For assistance with the application, please contact Tammy Scott at tammy.scott@emory.edu or (404) 778-8497.


Hemoglobin Disease Follow-up:  The follow-up for abnormal hemoglobin results that suggest hemoglobin disease are divided between the Division of Pediatric Hematology/Oncology at Augusta University and Children’s Healthcare of Atlanta.

Contact Information

Follow up within the Metro Atlanta Area

Children’s Healthcare of Atlanta:

JoAnn Beasley, RN BS

NBS Program Coordinator

1405 Clifton Road Atlanta, GA 30322

Phone: 404-785-1087

Fax: 404-785-1665

Follow up outside the Metro Atlanta Area

Augusta University:

Cynthia Williams Sr LPN

NBS Program Coordinator

1120 15th street, BG 2011, Augusta, GA 30912

Phone: (706) 721-6251

Fax: 706-721-5769
On-call MD: (706) 721-3893

On-call MD: (404) 225-0176

Hemoglobin Disease Carrier Status Follow-up: The Sickle Cell Foundation of Georgia, Inc is responsible for the following up on abnormal screens that suggest trait/carrier status for hemoglobin diseases.

Contact Information

Phone: (404) 755-1641

Toll-free line: 1-800-326-5287


Resources:

American College of Medical Genetics (ACMG) developed ACTion (ACT) sheets for each NBS disorder that describe actions to be taken by the physician in the event of an abnormal screen. Click here to view Newborn Screening ACT sheets.

The Georgia Newborn Screening Program Policy and Procedure Manual provides information on the NBS program, screening procedures, and provider responsibilities. Click here for the provider responsibilities section.

The Georgia Newborn Screening Program Website contains information on the NBS program as well as general information for providers and parents. Click here to view the provider section.

Contact Information

Newborn Screening Program

2 Peachtree Street, NW

11th Floor

Atlanta, GA 30303

404-657-4143

Georgia Public Health Laboratory

1749 Clairmont Road

Decatur, GA 30033-4050

Phone: (404) 327-7950

Fax: (404) 327-7919