By Dr. Sinem Karipcin
Preconception Carrier Screening (PCS): What do you need to know?
Preconception Carrier Screening (PCS) involves testing healthy individuals to determine if one or both of them are carriers of a genetic condition and may risk of transmitting an Autosomal Recessive Disorder such as cystic fibrosis, sickle cell anemia or Tay-Sachs disease. The screening can also identify X- linked Genetic Disorders such as hemophilia to their children. Interestingly, the vast majority of couples who are carriers have no known family history of these disorders.
What is the ideal time to test your carrier status?
The ideal time is before you conceive. It is best to know your carrier status before you start having a family so you have time to explore all your options and make informed decisions.
Does your partner need to be tested?
I recommend both partners be tested simultaneously. By testing the DNA of both partners, we can see whether they are carriers of specific genetic diseases. Some conditions such as cystic fibrosis require disease-specific counseling based on the carrier status of the partner. This is especially important when a couple is interested in starting the fertility treatment as quickly as possible.
Which diseases do you test for?
Most patients choose to be tested for the highest number of conditions available, which is currently 281. The conditions are selected based on very specific guidelines, with a focus on conditions which could be detrimental to the child’s quality of life.
If I am a carrier, does it affect my own health?
Generally, the majority of conditions for which you are being tested do not affect the health of the carrier. Carriers are generally healthy and though they carry the disease, they do not show any signs or symptoms.
What does it mean if we are both carriers for the same condition?
Most of the conditions tested for in the panel are what we call Autosomal Recessive Disorders. Recessive disorders require both partners to be carriers to pass the condition on to a child. If both partners carry the same recessive disease, then the couple has a 25% chance of giving birth to a child with the disease.
For X-linked disorders, we only test females because males with the disorder present with the disease, so patients would already be aware of the condition. There is a 50% chance a woman can pass an X-linked condition to a male child.
What are your options if you are both carriers of the same disease?
There are a number of options available to a carrier couple to have healthy children. The first step is to schedule an appointment with a genetic counselor and your physician who can provide more information and advice about available options. One option is IVF with preimplantation genetic testing which tests for the mutation in the embryo. Either your insurance or the carrier screening company may cover the cost of the genetic testing of the biopsied embryos. Alternatively, you can pursue to test the fetus early in the pregnancy through amniocentesis. A third option is going through fertility treatment using donor gametes (sperm or egg).
Our goal is to help you conceive and carry a healthy baby! PCS can be an important tool for us to use. For more information please call our office at (305) 446-4673 (HOPE).
Dr. Sinem Karipcin is a Board certified infertility specialist. Dr. Karipcin takes a holistic approach with her patients to help them achieve their goals of having a baby. She practices in Miami (Coral Gables) at Conceptions Florida.