Couples who visit a genetic counselor may already have established a pregnancy or may be planning a pregnancy for the future. For couples with one of these indications a visit to the Women’s Health Center often begins with the genetic counselor. Because genetic counseling is a rather recent specialty with limited numbers of practitioners across the United States, couples may be apprehensive about meeting with the genetic counselor. The genetic counselor obtains family history and medical information which is represented in a chart form or pedigree. Surprisingly, about a third of the pedigrees reveal additional risks to the pregnancy that were previously unknown to the family. This information is used by the genetic counselor to estimate risks to the pregnancy and, subsequently, to offer available testing for the disorders. At the Women’s Health Center at Cannon Place perinatologists, who are specialists in fetal testing, perform diagnostic testing for specific disorders by: - Chorionic villus sampling-vaginal procedure to obtain placental cells for testing-performed at 10-12 weeks gestation-associated with 1% risk for miscarriage
- Early amniocentesis-a needle is inserted through the maternal abdomen to obtain amniotic fluid and cells for testing-performed at 12-14 weeks gestation-associated with 1% risk for miscarriage
- Traditional amniocentesis-a needle is inserted through the maternal abdomen to obtain amniotic fluid and cells for testing-performed at 15 weeks gestation and throughout pregnancy-associated with 0.25-0.5% risk for miscarriage.
- Fetal screening tests are also available.
Commonly used screening tests to find pregnancies at increased risk for specific disorders are: - Targeted ultrasound-performed by specially-trained perinatal ultrasonographers to examine the fetal anatomy
- Maternal serum screen-maternal blood test to screen for open neural tube defects and specific chromosomal abnormalities
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Other tests that may be offered are based on the genetic counselor’s assessment of the individual couple’s risks. The couple is informed about the procedure, the benefits and accuracy of the testing for their particular disorder and any risks or limitations of testing. Decisions about testing involve much more than statistics, and the genetic counselor, along with the perinatologist, is available to answer questions and assist in the decision-making process. Some couples wish to visit with a genetic counselor very early in pregnancy or prior to conception to learn about their risks and available testing options. They then have time to consider the information and call their genetic counselor back with their decisions. While they are making those decisions, their genetic counselor is available by telephone or e-mail for any additional questions. The genetic counselor then schedules any tests and return visits. Other couples schedule a visit with the genetic counselor and a test procedure for the same day. After they have been seen by the genetic counselor and have the necessary information about their risks and the available tests, they can elect to proceed with the scheduled procedure or decline the testing. The Women’s Health Center at Cannon has several genetic counselors, and genetic testing is available daily during the business week. Appointments are generally made by referral of the obstetric healthcare provider so that insurance requirements are met. However, self-referrals for appointments are also welcome. | 
