Genetic Testing

Carrier screening determines whether or not an individual carries a change in one of their genes and if they are at increased risk of having an offspring affected with a genetic disease. Everyone carries abnormal genes, and in general, carriers have no symptoms or signs of the disease they carry.

What is a carrier?

A carrier is a person who has a change in only one gene of a pair and the other gene of the pair is working normally. A carrier is sometimes said to have the disease trait but has no physical symptoms of the disease. In many families, a recessive gene change or trait can be passed on through generations without ever being known. A recessive disease can only occur if a person who is a carrier has a baby with another person who is also a carrier. Such a couple would have a 1 in 4 (25 percent) chance, in each pregnancy, of having a baby with that recessive disease

What is Genetic Testing?

Carrier screening during pregnancy can help couples decide on prenatal or infant diagnostic testing, and if necessary, help them prepare emotionally, medically, and financially for a baby affected by a genetic condition.

What Does Carrier Screening Find?

The screening panel includes a large list of inherited conditions including:

What is Genetic Testing?

Genetic testing looks for changes, sometimes called mutations or variants, in your DNA. Genetic testing is useful in many areas of medicine and can change the medical care you or your family member receives. For example, genetic testing can provide a diagnosis for a genetic condition such as Fragile X or information about your risk to develop cancer. There are many different kinds of genetic tests. Genetic tests are done using a blood or spit sample and results are usually ready in a few weeks. Because we share DNA with our family members, if you are found to have a genetic change, your family members may have the same change. Genetic counseling before and after genetic testing can help make sure that you are the right person in your family to get a genetic test, you’re getting the right genetic test, and that you understand your results

Reasons for Genetic Testing

• To learn whether you have a genetic condition that runs in your family before you have symptoms
• To learn about the chance a current or future pregnancy will have a genetic condition
• To diagnose a genetic condition if you or your child has symptoms
• To understand and guide your cancer prevention or treatment plan After learning more about genetic testing, you might decide it’s not right for you. Some reasons might be that it’s not relevant to you or won’t change your medical care, it’s too expensive, and the results may make you worried or anxious.

If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. What follows is a detailed discussion of some of the more common genetic conditions for which carrier screening is recommended in at least some segments of the population.

Is Genetic Carrier Screening Right for Me?

There are hundreds of conditions that are caused by genetic issues. It’s very rare for you and your partner to both carry the genes that cause health problems.

Genetic carrier screening allows you to be aware that there’s a chance of having a baby with a health condition.

However, genetic carrier screening does not pick up every health condition. It doesn’t guarantee that you will have a healthy baby.

Genetic Screening for Donor

The donor should undergo a thorough medical and family history along with a genetic screening, to rule out any hereditary diseases (such as having a family history of cancer, heart disease, mental illness, etc.) or genetic abnormalities (such as being a genetic carrier for cystic fibrosis, sickle cell anemia, etc.) that could affect the offspring.

A general health screening is conducted which includes blood count, urine testing, and blood pressure. Screening for sexually transmitted diseases such as hepatitis, chlamydia, and HIV is also performed. Some fertility clinics also performs a psychological evaluation.

Genetic Screening for Infertile Patient

Couples wishing to start a family may use a sperm donor when the male partner has a low-quality semen analysis. This can be due to oligospermia (low sperm count), azoospermia (no sperm in the ejaculate), or poor motility. A sperm donor may also be used if the male partner has a genetic problem which could be passed on to the child.

There are many other genetic diseases that can cause male infertility. Many of these conditions can be detected through a complete male fertility evaluation consisting of a history, physical examination, semen analyses, and genetic tests when indicated.

These conditions can affect a man’s health, and the health of a future child. If a genetic defect is detected then genetic counseling is offered to the couple so they can be completely informed and can make decisions about what is best for them. We advocate that all men with fertility problems see a male fertility specialist