ABSTRACT: Newborn screening is the largest genetic screening program in the United States, with approximately 4 million infants screened annually. Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with testing and necessary follow-up health care for a variety of medical conditions. The goal of this public health program is to decrease morbidity and mortality by screening for disorders in which early intervention will improve neonatal and long-term health outcomes. The program’s functions include the initial screening of all newborns, identifying screen-positive newborns, diagnosing conditions, communicating with families, ensuring that affected children are referred to treatment centers, following up with long-term outcomes, and educating physicians and the public according to individual state or jurisdictional guidelines. All states and the District of Columbia have newborn screening programs with varying screening panels, policies, statutes, and regulations. Most programs have adopted the guidelines suggested by the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children. Obstetrician–gynecologists and other obstetric care providers should make resources about newborn screening available to patients during pregnancy. Providing newborn screening information during prenatal care visits can be accomplished in several ways and should be adapted to individual practice style. Integrating education about newborn screening into prenatal care allows parents to be prepared for having their child undergo screening as well as for receiving newborn screening test results. This document includes updated information on the Recommended Uniform Screening Panel (RUSP) and recommendations for incorporating newborn screening into obstetric practice.
Recommendations and Conclusions
The American College of Obstetricians and Gynecologists makes the following recommendations and conclusions
- Newborn screening is a mandatory state-based public health program that provides all newborns in the United States with testing and necessary follow-up health care for a variety of medical conditions. However, parents or guardians can opt-out of the program for religious reasons following state guidelines.
- Obstetrician–gynecologists and other obstetric care providers should make resources about newborn screening available to patients during pregnancy. Information can be disseminated through informational brochures and electronic sources and through review or discussion at some time during prenatal care. Integrating education about newborn screening into prenatal care allows parents to be prepared for having their child undergo screening as well as for receiving newborn screening test results.
- Newborn screening does not replace the potential value of carrier screening nor does carrier screening replace newborn screening.