California Newborn Screening Program
Maternal PKU Program
The success of newborn screening for PKU has led to hundreds of infants growing up with normal intelligence and leading normal lives. As a result, this created a new public health concern known as maternal PKU. Research showed that women with PKU who are not on a controlled diet prior to conception are at risk for having babies with mental retardation, congenital heart defects and other serious problems (even though these infants usually do not have PKU themselves). Because of these concerns, the Genetic Disease Branch initiated the Maternal PKU Project in 1985. In 1989 the Maternal PKU Project became the Maternal PKU Program, a permanent part of the Genetic Disease Screening Program.
The goals of the program are:
- to identify and locate young women of childbearing age with PKU;
- to inform such women of risks and options for preventing/minimizing poor pregnancy outcomes;
- to inform health professionals of the need for identifying and appropriately managing such pregnancies;
- to maintain a permanent tracking system of all present and future women with PKU of childbearing age.
A continually updated registry of all potential childbearing women with PKU in the State of California was established. All of the information provided to and contained in the MPKU Registry is confidential. A maternal PKU camp/conference was developed in order to achieve the educational goals for young women with PKU.
In addition to the registry, the Program's on-going projects include a bi-yearly newsletter, an MPKU journal library, and educational materials which are distributed to patients and health professionals.
Maternal PKU Camp/Conference