Preimplantation Genetic Testing

Preimplantation genetic testing (PGT) allows us to test embryos for genetic or chromosomal abnormalities during the in vitro fertilization (IVF) process, before you get pregnant. PGT helps us select the healthiest embryos for transfer and increases your chances of a healthy, full-term pregnancy. Testing also helps you make informed decisions about your reproductive goals.

IVF and Genetic Testing: Why Choose Penn Medicine Lancaster General Health?

At Penn Fertility Care - Lancaster General Health, we offer:

• Lancaster County's only embryology lab: Our on-site embryology lab is the only one of its kind in the area, making us uniquely qualified to perform PGT. Our experienced embryologists have the technical skill and equipment necessary for top-quality testing.
• Specialty expertise: PGT may not be the right choice for everyone undergoing IVF. We do comprehensive diagnostic testing and an in-depth evaluation of your personal and family medical history to make a recommendation for your unique situation.
• Education and support: We provide the information you need about genetic testing, including its risks, benefits and costs, so that you can make a confident decision about your fertility treatment. Your care team is by your side to provide guidance and support.

What Are Genetic Abnormalities?

A normal embryo typically has 46 chromosomes (half from the sperm and half from the egg) and the sex chromosomes XX or XY. The chromosomes contain genes that determine how your body looks and works. Occasionally, genes have mutations (abnormal changes). Or chromosomes might be missing, duplicated or in the wrong location.

Genetic abnormalities make an embryo less likely to implant in the uterus and can lead to miscarriages. The risk of genetic abnormalities increases with maternal age.

Is Preimplantation Genetic Testing Right for Me?

We may recommend preimplantation genetic testing if:

• You are a woman over the age of 35
• You are a woman with a history of recurrent pregnancy loss
• You have given birth to a child with a chromosomal abnormality or genetic disease
• You or your partner has a history of inheritable genetic disorders
• You or your partner is a carrier of a chromosomal abnormality

Types of Preimplantation Genetic Testing

There are three types of preimplantation genetic testing:

• Preimplantation Genetic Testing for Aneuploidies (PGT-A): PGT-A used to be called preimplantation genetic screening. It tests for general chromosomal abnormalities in an embryo, such as missing or duplicated chromosomes. It also looks at sex chromosomes. It doesn't check for specific genetic disorders.
• Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M): PGT-M used to be called preimplantation genetic diagnosis. It looks for specific genetic mutations in embryos, such as the one responsible for cystic fibrosis. We may recommend this if you have a family history of a disorder or know you're a carrier of a mutated gene.
• Preimplantation Genetic Testing for Structure Rearrangement (PGT-SR): PGT-SR detects structural abnormalities in chromosomes, which means a piece of a chromosome is missing or located in the wrong spot. We may recommend PGT-SR if the results of pre-pregnancy genetic tests show that you or your partner has a chromosomal rearrangement.

Hoes Does Preimplantation Genetic Testing Work?

If you choose preimplantation genetic testing, you still go through the normal IVF process. After controlled ovarian hyperstimulation and egg retrieval, we fertilize your eggs with sperm in our lab. Next:

1. Embryo development: Our embryologists grow the embryos in our lab for 5 or 6 days, until they reach the blastocyst stage.
2. Embryo biopsy: We take a small sample of cells from inside the embryo. The cells contain genetic material that we can test.
3. Embryo freezing: All embryos that undergo PGT must be frozen. Fresh embryos won't stay viable for the length of time it takes to do the test and get results (several weeks).
4. Embryo selection: Once we receive results, we review the findings with you and discuss the healthiest embryo for transfer.
5. Frozen embryo transfer: During a frozen embryo transfer, we warm the frozen embryo and transfer it to your uterus.

Can I Choose the Sex of My Baby with Preimplantation Genetic Testing?

PGT-A looks at sex chromosomes. Testing the embryo can tell us what sex the child will be. You may choose to do this test for family balancing (usually when parents have one or more children of the same sex and would like a child of the opposite sex). PGT-A has risks and benefits, so we encourage you to talk with your fertility specialist about your options.

Make an Appointment

Call 717-544-0107 or request an appointment to schedule your fertility consultation.