Children’s Specialists Division of Genetics is working in conjunction with Perinatology to offer comprehensive prenatal screening services, which can identify pregnancies at risk for chromosome defects in the first trimester of pregnancy. Using ultrasound, physicians can estimate, in an accurate and non-invasive manner, the individual risk of a fetal chromosome abnormality. The additional use of maternal serum markers (PAPP-A) refines the risk estimate even more. From this risk estimate, a couple can decide whether or not to pursue invasive testing, such as chorionic villus sampling or amniocentesis for karyotyping. Early screening gives couples ample time to undergo further tests and weigh all their options.

Genetic counselors assess an individual or couple’s risk for birth defects and/or genetic conditions, inform couples about options for testing, counsel families about the implications of abnormalities when they are found, and may arrange for them to meet a family with a child diagnosed with the same condition.

Other services the genetics division offers include:

• Chromosome analysis on amniotic fluid, blood, and tissue to evaluate recurrent pregnancy loss, miscarriage, birth defects, mental retardation and to assist with diagnosis of certain cancers and leukemias
• DNA-based testing for a variety of pediatric disorders
• Genetic counseling
• Clinical evaluation for birth defects, mental retardation, or genetic abnormalities

Free pre-pregnancy and pregnancy classes educating couples on genetic risk factors and testing options The genetics division includes two pediatricians with highly specialized training in birth defects and three genetics counselors. They use an integrated, team approach to offer the full scope of services from prenatal diagnosis to pediatric follow-up care. For genetic counseling or prenatal diagnosis, call 858-939-6860. When to Receive Prenatal Genetic Screening:

• abnormalities detected on ultrasound
• family history of mental retardation, cystic fibrosis or other potentially genetic problem
• recurrent pregnancy loss
• maternal condition known to increase the risk for birth defects, such as diabetes, epilepsy or mitochondrial disease
• couples interested in prenatal diagnosis for advanced maternal age or other indication