Genetic Testing For A Healthy Pregnancy

Any person planning pregnancy hopes for the healthiest outcome possible. The stakes are even higher during in vitro fertilization (IVF) or egg freezing. Women using assisted reproductive technology (ART) to get pregnant want to do everything possible to ensure a pregnancy free of complications and a healthy baby. Genetic testing early on can reduce risk and allow patients to achieve the dream of having a family sooner rather than later.


Preimplantation genetics

During IVF, women are given medications to produce multiple eggs in a single cycle. The eggs are then retrieved and combined with sperm in a lab to create an embryo. The embryo is grown in the lab for a few days before being transferred back into the uterus. During this time, genetic testing can be performed to check the future baby’s health. Preimplantation genetic testing (PGT) looks at the X and Y chromosomes as well as the total number of chromosomes, helping to identify problems such as Down syndrome. Preimplantation genetic diagnosis (PGD) is another test that looks for specific inherited abnormalities like Cystic Fibrosis (CF) that can be passed down to the baby. Both PGT and PGD offer many benefits to IVF patients.

1. Avoid genetic abnormalities

The main goal of PGT and PGD is to identify genetic problems. When PGT and PGD are performed before transfer, the patient can decide on the best-quality embryos to use. By choosing not to transfer an embryo that has an extra chromosome or is affected by a genetic disease, a healthier pregnancy is guaranteed.

2. Reduce miscarriage risk

A spontaneous abortion or miscarriage is the loss of a pregnancy before 20 weeks. This type of loss can be devastating for any couple but even more so for women who have undergone fertility treatment to get pregnant. Research shows approximately 50% of miscarriages occurring in the first trimester are due to a chromosomal abnormality. Early genetic testing before transfer can reduce the risk of this outcome by identifying any embryos affected by genetic problems. The patient can then select a chromosomally normal embryo for transfer, reducing the risk of this unfortunate outcome.

3. Improve time to pregnancy

Most people know IVF can be expensive, so achieving success with the least number of cycles possible is ideal. Preimplantation genetic testing allows for a closer look at the embryos to identify the healthiest option for transfer. Early testing means the selected embryo has a higher chance of success, reducing the need for additional IVF cycles.

Decrease risk, increase success

Although not every patient will want to opt for PGT and PGD, patients who do so will learn more about the embryos selected for transfer or storage. Preimplantation genetic testing and diagnosis can reduce the risk of transferring an embryo with a chromosomal abnormality or genetic disease. Early testing is a great way to decrease risk and increase IVF success.

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