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Genetic Counseling

Overview :

With approximately 2,000 genes identified and approximately 5,000 disorders caused by genetic defects, genetic counseling is important in the medical discipline of obstetrics. Genetic counselors, educated in the medical and the psychosocial aspects of genetic diseases, convey complex information to help people make life decisions. There are limitations to the power of genetic counseling, though, since many of the diseases that have been shown to have a genetic basis currently offer no cure (for example, Down syndrome or Huntington's disease). Although a genetic counselor cannot predict the future unequivocally, he or she can discuss the occurrence of a disease in terms of probability.

Genetic counseling also can help people with diseases they may face in their own lifetimes. A 2003 study in Great Britain found that women with a family history of breast cancer were less worried about getting the disease if they had genetic counseling.

A genetic counselor, with the aid of the patient or family, creates a detailed family pedigree that includes the incidence of disease in first-degree (parents, siblings, and children) and second-degree (aunts, uncles, and grandparents) relatives. Before or after this pedigree is completed, certain genetic tests are performed using DNA analysis, x ray, ultrasound, urine analysis, skin biopsy, and physical evaluation. For a pregnant woman, prenatal diagnosis can be made using amniocentesis or chorionic villus sampling.

Family pedigree

An important aspect of the genetic counseling session is the compilation of a family pedigree or medical history. To accurately assess the risk of inherited diseases, information on three generations, including health status and/or cause of death, usually is needed. If the family history is complicated, information from more distant relatives may be helpful, and medical records may be requested for any family members who have had a genetic disorder. Through an examination of the family history a counselor may be able to discuss the probability of future occurrence of genetic disorders. In all cases, the counselor provides information in a non-directive way that leaves the decision-making up to the client.

Family history questionnaire

As more detailed genetic information becomes available, physicians and genetic counselors may feel the need to dig more deeply than a family pedigree allows. In 2004, physicians attending an American College of Medical Genetics meeting announced use of a structured questionnaire with 50 items to consistent, thorough gather family history data. Although the questionnaire's format and terminology were confusing to some patients, once a formula was applied to the answers, it still helped reviewers agree on a counseling plan 79% of the time.

Screening tests

Screening blood tests help identify individuals who carry genes for recessive genetic disorders. Screening tests usually are only done if:

  • The disease is lethal or causes severe handicaps or disabilities.
  • The person is likely to be a carrier due to family pedigree or membership in an at-risk ethnic, geographic or racial group.
  • The disorder can be treated or reproductive options exist.
  • A reliable test is available.

Genetic disorders such as Tay-Sachs disease, sickle-cell anemia, and thalassemia meet these criteria, and screening tests are commonly done to identify carriers of these diseases. In addition, screening tests may be done for individuals with family histories of Huntington's disease (a degenerative neurological disease) or hemophilia (a bleeding disorder). Such screening tests can eliminate the need for more invasive tests during a pregnancy.

Another screening test commonly used in the United States in the alpha-fetoprotein (AFP) test. This test is done on a sample of maternal blood around week 16 of a pregnancy. An elevation in the serum AFP level indicates that the fetus may have certain birth defects such as neural tube defects (including spina bifida and anencephaly). If the test yields an elevated result, it may be run again after seven days. If the level still is elevated after repeat testing, additional diagnostic tests (e.g. ultrasound and/or amniocentesis) are done in an attempt to identify the specific birth defect present.


Ultrasound is a noninvasive procedure that uses sound waves to produce a reflected image of the fetus upon a screen. It is used to determine the age and position of the fetus, and the location of the placenta. Ultrasound also is useful in detecting visible birth defects such as spina bifida (a defect in the development of the vertebrae of the spinal column and/or the spinal cord). It also is useful for detecting heart defects, and malformations of the head, face, body, and limbs. This procedure, however, cannot detect biochemical or chromosomal alterations in the fetus.


Amniocentesis is useful in determining genetic and developmental disorders not detectable by ultrasound. This procedure involves the insertion of a needle through the abdomen and into the uterus of a pregnant woman. A sample of amniotic fluid is withdrawn containing skin cells that have been shed by the fetus. The sample is sent to a laboratory where fetal cells contained in the fluid are isolated and grown in order to provide enough genetic material for testing. This takes about seven to 14 days. The material then is extracted and treated so that visual examination for defects can be made. For some disorders, like Tay-Sachs disease, the simple presence of a telltale chemical compound in the amniotic fluid is enough to confirm a diagnosis.

While it has been routine in recent years to suggest amniocentesis to every pregnant woman age 35 and older to screen for Down syndrome, evidence in 2003 began suggesting that it made more sense and was safer to offer blood test screening. The "triple screen" blood test can identify about three-fourths of Down syndrome cases by measuring certain chemicals in the mother's blood.

Chorionic villus sampling

Chorionic villus sampling involves the removal of a small amount of tissue directly from the chorionic villi (minute vascular projections of the fetal chorion that combine with maternal uterine tissue to form the placenta). In the laboratory, the chromosomes of the fetal cells are analyzed for number and type. Extra chromosomes, such as are present in Down syndrome, can be identified. Additional laboratory tests can be performed to look for specific disorders and the results usually are available within a week after the sample is taken. The primary benefit of this procedure is that it is usually performed between weeks 10 and 12 of a pregnancy, allowing earlier detection of fetal disorders. A 2003 study reported that this test resulted in fewer cases of pregnancy loss, amniotic fluid leakage, or birth defects than early amniocentesis.

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