Genetic Diagnostic Tests
For couples who have had difficulty achieving pregnancy or with multiple miscarriages
Several different genetics tests are available for couples having difficulty becoming pregnant or who have experienced recurrent, unexplained pregnancy losses. Fragile X syndrome testing may be recommended for women with early menopause or other reproductive problems. Chromosome analysis in both men and women may help to determine the cause of infertility or multiple miscarriages. In men with a very low sperm count or no sperm, a DNA test examining the Y chromosome may also be recommended. If the cause of the problem can be determined, reproductive options can then be discussed. These may include assisted reproductive technology (ART), sperm or egg donation, or adoption.
Blood samples are used for genetic testing and analysis based on each person's concerns and potential disease risks identified in the genetic evaluation.
Every pregnancy begins with a chance or risk of problems. Some pregnancies will result in a fetus with a chromosomal abnormality such as Down syndrome, while others may be affected by a birth defect or adverse outcome. Prenatal genetic studies use blood samples for analysis at Henry Ford's on-site Cytogenetics and DNA Laboratories. The Maternal Serum Screening Program provides a series of blood tests over the course of the pregnancy to help evaluate and identify those at a higher risk. Other screening tests that are not performed at Henry Ford are also available. Additional diagnostic tests for pregnant women may include amniocentesis,chorionic villus sampling (CVS), and other studies to detect genetic conditions of the fetus.
Henry Ford was one of the first genetics laboratories in the country to offer the maternal serum alphafetoprotein (MSAFP)-Quad test and subsequently the Maternal Serum Integrated test. These blood tests provide an ever-increasing detection rate for pregnancies with Down syndrome, Trisomy 18 chromosomal defect, or certain birth defects such as neural tube defects (spina bifida). The incorporation of additional information and ultrasound assessment results in a decreasing incidence of "false positives," adding to the family's peace of mind.
Genetic counseling provides detailed information, as well as support for families in understanding a diagnosis, explaining the natural history of a disease, reviewing the available options for management and treatment, and identifying and coordinating specialty referrals and community services. The specific needs of the individual and family, such as ethical and religious beliefs, are respected in this process. Genetic counselors and physicians help the individual and family to:
- Understand the medical facts including diagnosis, prognosis (predicted path of the condition), and available treatment
- Understand how heredity contributes to the condition
- Understand recurrence risks
- Understand options for testing
- Adjust to the information provided
- Make the best possible plan of care
Prenatal genetic counseling includes identifying risk factors as well as discussion and explanation of other concerns such as ultrasound findings or abnormal screening test results. During the counseling session, options for prenatal testing are discussed. The woman and/or couple may then decide what testing to have.