Genetic Counseling for Prenatal Diagnosis and Screening

The majority of genetic counselors practice in the setting of a prenatal diagnosis program. The professional staff of a prenatal diagnosis program (physician, nurse, and genetic counselor) must obtain an accurate family history and determine whether other previously unsuspected genetic problems should also be considered on the basis of family history or ethnic background.

Ethnic background, even in the absence of a positive family history, may indicate the need for carrier tests in the parents in advance of prenatal diagnostic testing. For example, in a couple referred for any reason, one must discuss carrier testing for autosomal recessive disorders with increased frequency in various ethnic groups. Such disorders include thalassemia in individuals of Mediterranean or Asian background, sickle cell anemia in Africans or African Americans, and various disorders in the fetus of an Ashkenazi Jewish couple. However, because it is becoming increasingly difficult to assign a single ethnicity to each patient, the use of universal carrier screening panels, in which patients are tested for a large array of genetic disorders irrespective of apparent or stated ethnicity, are becoming more and more common.

The complexities posed by the availability of different tests (including the distinction between screening tests and diagnostic tests), the many different and distinctive indications for testing in different families, the subtleties of interpretation of test results, and the personal, ethical, religious, and social issues that enter into reproductive decision making all make the provision of prenatal diagnosis services a challenging arena for counselors. Parents considering prenatal diagnosis for any reason need information that will allow them to understand their situation and to give or withhold consent for the procedure. Genetic counseling of candidates for prenatal diagnosis usually deals with the following:

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