Genetic Screening

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.

At Cedars-Sinai, we offer genetic screening for numerous conditions, including cystic fibrosis, Tay-Sachs disease, sickle-cell disease and thalassemia.

Cystic Fibrosis

Cystic fibrosis is one of the most common genetic conditions. It causes chronic lung and intestinal problems, poor weight gain and other symptoms, usually beginning in early childhood. Although treatment for cystic fibrosis has improved, life span and quality of life remain limited.

Tay-Sachs Disease

Tay-Sachs disease occurs mainly in Ashkenazi Jews (ones of Eastern European descent). It is a disorder in which infants, who can appear normal at birth, develop degenerative neurologic problems and generally die by the age of five. No treatments are currently available.

Other disorders found more commonly in persons of Ashkenazi Jewish heritage include:

  • Bloom syndrome
  • Canavan disease
  • Familial dysautonomia (Riley-Day syndrome)
  • Fanconi anemia, group C
  • Gaucher disease
  • Mucolipidosis (MLD), type IV
  • Niemann-Pick disease, type A

Sickle-Cell Disease

Sickle-cell disease is a blood disorder that occurs most commonly in African Americans or in people of Mediterranean descent. Its severity can range from mild to life threatening.

Thalassemia (Cooley's Anemia)

Thalassemias are a group of anemia-like blood disorders that occur most commonly in people of Mediterranean background, African Americans and Asians. These conditions can range from mild to life threatening.

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 the conditions listed above. 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 at Cedars-Sinai 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.

Prenatal testing is available through the at Cedars-Sinai. The options of prenatal testing by chorionic villus sampling or by amniocentesis are available with each pregnancy. Depending on the results, couples can then make informed decisions.