My Partner and I Tested Positive as Genetic Carriers: What Are Our Fertility Options?

Genetic carrier screening provides expecting parents information that can help them determine their risk of having a child with certain genetic disorders. For the test, a blood draw is taken from each parent in order to analyze his/her DNA. The results determine whether either parent has a genetic mutation that can be passed on to the couple’s children, and possibly cause a genetic condition to develop.

If both individuals in a couple test positive as a genetic carrier for the same genetic condition, their risk of having a child with this disorder is 25%.

If you are worried about the risk that your child will be born with a genetic disorder, but you still want to have children, there are alternative fertility options that can reduce the risk of your child inheriting a condition for which you’re a carrier. Assisted reproductive technologies are techniques that are used to help couples achieve pregnancy when natural conception is not possible, but can also be used to “screen” embryos for a genetic disorder. These procedures are performed in a laboratory in a controlled environment and include procedures like in vitro fertilization (IVF), zygote intrafallopian transfer (ZIFT), and preimplantation genetic diagnosis (PGD).

In Vitro Fertilization (IVF)

In vitro fertilization (or IVF) is a fertilization process that occurs outside of the body in a laboratory. The female patient will be prescribed fertility medications that stimulate the production of eggs. She will then undergo a minor procedure to have the eggs extracted for use during the fertilization process. In the lab, the eggs are mixed with sperm from the male patient in order to encourage fertilization. In some cases, eggs will be manually fertilized with sperm using a process called intracytoplasmic sperm injection (ICSI) in order to form an embryo. Three to five days following fertilization, the embryo is implanted into the woman’s uterus.

Zygote Intrafallopian Transfer (ZIFT)

Zygote intrafallopian transfer (or ZIFT), also referred to as tubal embryo transfer (TET), follows the same process as IVF. However, instead of implanting the embryo into the uterus, the embryo is implanted into the woman’s fallopian tube within 24 hours of fertilization.

Preimplantation Genetic Diagnosis (PGD)

Both IVF and ZIFT have one important aspect in common: preimplantation genetic diagnosis (or PGD). Preimplantation genetic diagnosis is a genetic test performed in conjunction with certain assisted reproductive technologies. When performing assisted reproductive technologies, scientists test the DNA of an embryo before implantation. The results will show whether the embryo contains the genetic mutation associated with the genetic disorder in question. Only embryos without the genetic mutation will be implanted.

Preimplantation genetic diagnosis is most commonly performed when both parents have tested positive as genetic carriers for a specific genetic mutation associated with a certain genetic disorder.

Learn More About Assisted Reproductive Technologies

If you think that you may be a carrier for a certain genetic disorder and would like to know your risk of having a child with the condition, make an appointment to speak with a genetic counselor.

You can also find more information about assisted reproductive technologies on the Society for Assisted Reproductive Technology website.


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