Registries and Projects Section
The staff in this Section are responsible for maintaining California case registries of the disorders detected by the Newborn and Prenatal Screening programs. With respect to Newborn Screening, the registries include metabolic, endocrine and hemoglobin disorders. The registries also include affected newborns that were born in military hospitals, residents that were born in facilities outside the State and individuals diagnosed that did not participate in the California Newborn Screening Program. De-identified data from these registries have been used in a variety of epidemiological studies. All studies that use our data must be first approved by the California Committee for the Protection of Human Subjects.
With respect to the prenatal screening program, two additional registries include newborns diagnosed with chromosome abnormalities and neural tube defects. These registries include both prenatally diagnosed cases as well as infants up to one year of age. The registry includes both cases that were screened and not screened by our program. The information in the registries is used for a variety of purposes, including estimating program detection rates and overall impact on birth defect prevalence rates.
This section maintains a NTD prevention program for women who have had a pregnancy where the fetus or child was diagnosed with a neural tube defect. This includes specific disorders, including spina bifida, anencephaly or encephalocele. There is an increased risk for recurrence that can be reduced by folate supplementation. Women are contacted after entry into the registry with this prevention information.
This Section is also responsible for collecting, monitoring and producing reports of genetic services provided to California women at State-approved prenatal diagnosis centers which are not provided as part of the Expanded AFP Program. This data is provided to the Genetic Disease Screening program by the prenatal diagnosis centers on a quarterly basis.
Other projects include participation in a National Institutes of Health sponsored ($5.2 million) study to determine 1) the feasibility of prenatal screening for Smith-Lemli-Opitz syndrome, 2) the prevalence of the disorder, and 3) the prospective validation of a maternal urine diagnostic assay. As a result of this study screening for Smith-Lemli-Opitz syndrome was added to to our program and many other programs throughout North America.