Genetic Screening/Screening for Rubella and Varicella

Cystic Fibrosis Screening

The American College of Obstetricians and Gynecologists has recommended that all women in the United States planning a pregnancy be aware that a screening test is available for the genetic disease Cystic Fibrosis. You will receive a brochure which explains the nature of this disease. It will help you to decide whether or not to have this screening blood test.

Screening for Viral Immunity to Rubella and Varicella

The American College of Obstetricians and Gynecologists also recommends that all women planning to become pregnant be screened for immunity to Rubella virus - a virus which can cause birth defects to children if exposed while in the uterus. Vaccination against rubella is routinely administered to all children born in the United States therefore it is rare for native-born U.S. citizens to be non-immune to this virus. Rarely however, the vaccination will not confer immunity to the recipient and a re-vaccination will be necessary in these cases.

Most people living in the U.S are immune to the Varicella virus by having had the “Chicken Pox” infection in childhood. Varicella virus can cause serious pulmonary disease in pregnant mothers and newborn babies though this is very rare since immunity to Varicella is so common. If you believe you may not have had “chicken pox” as a child, then it may be advisable for you to have a screening blood test for immunity to Varicella. A vaccination against Varicella virus is available if you are non-immune.

If you were to require either a Rubella or a Varicella vaccination, it is recommended that you wait three months from the time of vaccination before attempting pregnancy to avoid the potential risk of affecting a developing fetus.

Screening for Other Genetic Diseases

Additionally, there is a growing list of genetic (‘inherited’) diseases for which you can now be tested using PGD to tell if you may carry a risk for passing one of these diseases on to your children. Men or women who are Jewish (particularly of Ashkenazi Jewish descent) or of Middle Eastern European descent are at particular risk for some of these genetic diseases.

We therefore encourage people of these ethnic backgrounds, as well as all of our patients, to review this list of screenable genetic diseases to see if you recognize any condition which may run in your family. An asterisk (*) appears next to those diseases which are known to have a relatively higher incidence in the Ashkenazi Jewish population compared to other ethnic groups.

We ask that you inquire to your physician if you have a particular need or interest in having testing done for any of these conditions. If you are uncertain about the need to have any of these tests or if you think any of the listed conditions may exist in your family it would probably be best to arrange a consultation with a genetics counselor. Such a consultation would be necessary if any genetic screening test were to have a result indicating that you have a ‘carrier’ status for a given genetic disease.

Some health insurers reimburse for genetics counseling or genetic testing. We urge you to ascertain whether or not your particular insurer will reimburse you prior to scheduling a genetics consultation or having genetic testing done.

Chromosome Number and Structural Disorders

  • Down syndrome
  • Trisomy 13,18
  • Fragile X

Chromosome Translocations and Deletions

  • DiGeorge syndrome
  • Prader-Willi syndrome
  • Angelman syndrome

Gene Abnormalities

  • Cystic fibrosis
  • Tay-sachs disease
  • Gaucher disease
  • Canavan disease
  • Neimann-Pick disease
  • Bloom syndrome
  • Fanconi anemia
  • Sickle cell anemia
  • Thalassemias (alpha and beta)
  • Hemochromatosis
  • Myotonic dystrophy
  • Charcot-Marie-Tooth
  • Duchenne/Becker Muscular Dystrophy
  • Spinal Muscular Atrophy
  • Hemophilia A & B
  • Von Willebrand's Disease
  • Factor V Leiden Deficiency
  • Polycystic Kidney Disease (-Not related to ‘polycystic’ ovaries)
  • Long Q-T syndrome
  • Huntington disease

Gene Abnormalities Resulting in Abnormal Metabolism

  • Phenylketonuria(PKU)
  • Alpha-1-Antitrypsin Deficiency
  • Galactosemia
  • Ornithine Transcarbamylase Deficiency(OTC
  • Congenital Adrenal Hyperplasia(CAH)