ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program

ID#: NCT05368038

Age: Birth - 4 weeks

Gender: All

Healthy Subjects: Accepts Healthy Volunteers

Recruitment Status: Enrolling by invitation

Start Date: May 10, 2021

End Date: July 31, 2026

Summary: ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a panel of additional conditions. The study has three primary objectives: 1) define the analytic and clinical validity of multi-tiered screening assays for a flexible panel of disorders, 2) determine disease incidence in an ethnically diverse population, and 3) assess the impact of early diagnosis on health outcomes. Over a five-year period, ScreenPlus aims to screen 175,000 infants born in nine high birthrate, ethnically diverse pilot hospitals in New York for a flexible panel of 14 rare genetic disorders. This study will also involve an evaluation of the Ethical, Legal and Social issues pertaining to NBS for complex disorders, which will be done via online surveys that will be directed towards ScreenPlus parents who opt to participate and qualitative interviews with families of infants who are identified through ScreenPlus.

Inclusion Criteria:

- All newborn infants born at a ScreenPlus pilot hospital

- Infants who are less than four weeks old, regardless of sex, gestational age, or health status.

Exclusion Criteria:

- A newborn screening sample is unavailable

- Infants who are more than four weeks old