The Prenatal Ethnicity-Based Genetic Screening (PNEBS) Program at Kaiser Permanente Northern California offers genetic testing to all prenatal patients who are at higher risk to have a baby with certain genetic conditions, based on their ethnic backgrounds (the countries from which their families originated).

The program offers carrier screening for six conditions, or groups of conditions:

• thalassemia diseases
• sickle cell diseases
• Tay-Sachs disease
• Canavan disease
• cystic fibrosis
• familial dysautonomia
  

Screening for these conditions is targeted to the ethnic groups that have an increased risk for these conditions.

All of the conditions screened for by this program are inherited as autosomal recessive disorders, which means that both parents must be carriers of a specific genetic trait for the pregnancy to be at risk. If a pregnancy is found to be at high risk for any of these conditions, the couple is offered prenatal diagnosis so they can know if the baby is affected before it is born.

Prenatal screening for all of the above conditions is optional (except screening for the thalassemia diseases, which is routine). Newborn screening for cystic fibrosis, sickle cell, and thalassemia diseases, as well as other metabolic and endocrine conditions, is performed on all babies born in California.

The KP Prenatal Ethnicity-based Screening Program was established in 1999. The Genetics Department at KP San Jose oversees the prenatal ethnicity-based screening program for cystic fibrosis, Tay-Sachs disease, Canavan disease, and familial dysautonomia. The coordinator of this program is Christy Wold, MS and the director is David R. Witt, MD.

The Genetics Department at KP Oakland oversees the prenatal hemoglobinopathy screening program, which includes screening for the thalassemia diseases and sickle cell diseases. The coordinator of this program is Catherine Klumpp, MS, and the director is Bruce Blumberg, MD.

Information about Genetic Carrier Tests, KP publication, revised 6/07