Preconception Counseling & Genetic Carrier Testing

Dr. Leslie Korostoff offers genetic screening for numerous conditions, including cystic fibrosis, Tay-Sachs disease, sickle-cell disease and thalassemia.

Although every person carries several abnormal genes, the chance of having a child with a certain genetic abnormality is usually small. However, persons of particular racial, ethnic or geographically defined groups can have a higher than average chance of passing on genetic abnormalities that lead to specific diseases and conditions.

The best time to be tested for these conditions is when you are planning a pregnancy. Anyone who is of Eastern European or Mediterranean descent, an African American or Asian should strongly consider testing to see if they are carriers of many common conditions.

Screening usually involves only a simple blood test. If the results are normal for either parent, the concern for having children with these disorders is greatly alleviated. Even if both of the parents are carriers, they can still have normal, healthy babies, but it does mean there is a degree of risk. Prenatal diagnosis should be done.

The State of California Prenatal Screening Program provides screening for Down's syndrome, trisomy 18, neural tube defects (involving the brain and spine) and malformations in which the fetal abdominal wall does not close properly. This test entails taking a small amount of blood from the mother and evaluating it for several naturally occurring substances. If the values are high or low, genetic counseling and additional testing (such as fetal ultrasound evaluation and amniocentesis) may be offered.

For more information about preconception options and genetic carrier testing, or to schedule an appointment with Dr. Korostoff, please contact our Patient Care Coordinators at (818) 790-8121.