At the Forefront of Newborn Screening

What is Newborn Screening?

While most babies are born healthy, some are born with serious but treatable medical conditions, many of which are detectable through newborn screening. Conditions included in newborn screening are typically illnesses that are serious and rare and may not have symptoms right away. The purpose of screening is to identify illnesses early before a baby develops symptoms and becomes sick and to start treatment right away so that the baby remains healthy.  By doing so, we can prevent significant health issues and developmental delays.

Ideally, at around 30 hours of life, a nurse will perform a heel stick and collect a few spots of blood on a paper card, which is then screened in the state laboratory for about 70 rare genetic conditions. If a baby’s screen is flagged as out of range for any of the conditions, it raises a red flag. It doesn’t necessarily mean that the baby has one of these disorders, but that more testing is needed to know for sure.

Most of the conditions screened for in Connecticut are easily treated through diet change or medication. Newborns affected with these disorders may look healthy at birth. Without screening, the disorder may remain unnoticeable while causing permanent damage to the infant. Identifying and treating affected infants right away can prevent significant health problems and even death. From February 2020 to February 2021, 35,557 babies were born in Connecticut. Of those, 481 screened out of the normal range during the newborn screening process, and 113 went on to be diagnosed with a condition on the newborn screening panel.

One of the most common conditions the newborn blood spot screen can detect is congenital hypothyroidism, which is prevalent in one in every 3,000 births. Untreated babies have the potential to develop serious intellectual, developmental and physical disabilities within the first month of life. However, if connected with an endocrinologist and started on appropriate medication, these babies can experience healthy growth and development. Spinal muscular atrophy, or SMA, is one of the newest conditions added to the Connecticut newborn screening panel. SMA is a rare genetic disorder that causes weakness and, without treatment, can worsen quickly and lead to death. However, there are new treatments available that, if started within the first few weeks of life, can significantly reduce morbidity and mortality. Each year, screening within the U.S. prevents about 50 infants from needing a ventilator and about 30 deaths due to SMA Type 1.

Beyond Newborn Screening: Developing a Newborn Diagnosis Network

Newborn screening is evolving rapidly, with new conditions being added almost every year, and the best practice for evaluation and management of those conditions is constantly changing. In 2017, the DPH identified an urgent need for continued education of pediatric providers, for access to genetic counseling, and for family support. The DPH put out a call for a new and innovative model. Connecticut Children’s was selected to develop and launch the Network, which places Connecticut at the forefront of a nationwide movement to ensure long-term follow up for children diagnosed with these rare conditions.

The Network centralizes reporting of out-of-range screens, and provides high-level support for families and healthcare providers. Once an infant confirms positive for a disorder, the Network coordinates treatment and long-term follow up with primary care providers and subspecialists; and has built a strong IT infrastructure to support the growing capacity of the screening Network.

In building the Network, Connecticut Children’s assembled a team of experts led by Karen Rubin, MD, who is widely regarded for her innovations and expertise in chronic disease management, transition from pediatric to adult care, and strengthening the primary-subspecialty care interface through co-management of more than 40 conditions. The Network’s expert nurse coordinators, genetic counselor, and Registry analyst have introduced new efficiencies and outreach activities, already demonstrating a positive impact on families and providers statewide. The Network recognizes the critical importance of families, primary care providers, and subspecialty care providers joining as equal partners in the care of individuals diagnosed with a newborn screening condition as a means of achieving best possible developmental, social-emotional, and physical health outcomes in the newborn screening population.

Under the model, our experts are able to:

• Begin the diagnostic work-up and provide support to the healthcare team and family, in conjunction with the primary care provider. 
• Staff a newborn screening info line for parents and providers. 
• Provide educational materials for parents and providers. 
• Provide genetic counseling. 
• Track long term health and developmental outcomes. 
• Develop and maintain a statewide newborn screening registry. 
• Communicate with the DPH through a newly developed electronic platform. 
• Remain involved with families until a child turns 18 to provide resources and ensure they understand and follow care plans. 
• Monitor children through age 18 to assess whether the initiative successfully enhances long-term outcomes and improves quality of life. 
• Connect families to care coordinators and community resources. 

The Network currently follows about 2,700 children throughout Connecticut diagnosed with one of the conditions on the newborn screening panel.

The Network’s Impact

During the Network’s first three years, there has been substantial progress to enhance outcomes for children who are diagnosed with rare diseases first detected through newborn screening. The Network’s electronic registry allows nurse coordinators to track screens and follow up on results using real time, customized dashboards. Through the introduction of efficient pre-diagnosis workflows for subspecialty care teams, and the ability to track all pre-diagnosis patients electronically, the Network has significantly decreased the time between screening and diagnosis by 71%, from an average of 140 days down to 40 days. Because of this, families experience a reduced amount of stress as they await results and are promptly connected to specialty care teams, when needed. This means treatment begins much quicker than it would without the Network in place.

The Network has also formed Connecticut’s first Newborn Screening Family Advisory Group, which may be the first of its kind in the nation. The group serves in an advisory capacity, making recommendations on matters that impact the experience of patients and their families.  Working with patients and families as advisors at the organizational level is a critical part of family engagement. Family advisors are valuable partners in efforts to improve the experience and overall quality of care. The goal of the Family Advisory Group is to create an environment where families and clinicians work together as partners to improve the newborn screening experience. Family advisors are able to offer input based on family-identified needs rather than the assumptions of clinicians about what patients and families want.  

Newborn screening only reaches its full potential when identified infants have prompt access to diagnostic evaluations and then, for those confirmed with a diagnosis, access to appropriate care across their lifespan. While long term follow up is necessary to maximize the benefit of diagnosis through newborn screening, follow up care has historically been inconsistent. Without systems in place to ensure effective and timely disease management, prevention, and screening within primary care during this critical period, the full promise of newborn screening – the prevention of illness, short- and long-term disability, and premature death – cannot be achieved. Moving forward, the Network is focusing on implementing and evaluating a comprehensive long term follow up model that will address this need. This long term follow up model will reduce fragmented care and allow for identification of care gaps, enabling early identification and the ability to address issues through care coordination and co-management.

We have come a long way in advancing newborn screening, diagnosis and follow up. Newborn screening is the key to preventing disability for thousands of newborns every year. Our role as healthcare professionals is vital. These conditions can have devastating consequences if not diagnosed soon after birth. But with early detection and treatment, babies with conditions that may once have led to disability or even death can grow up to be healthy adults. We continue to see children every day who, because of prompt diagnosis and medical care, are living proof that newborn screening is a success.