Preimplantation Genetic Testing (PGT)

No. PGT cannot test for every genetic condition or guarantee successful embryo implantation, pregnancy, or the birth of a healthy baby.

PGT-A screens for number of chromosomes, PGT-M targets a specific single-gene condition, and PGT-SR evaluates chromosome material related to a known structural rearrangement. These tests cannot detect every gene, birth defect, or developmental condition.

PGT also analyzes only a small sample of cells. The Society for Maternal-Fetal Medicine recommends that patients who become pregnant through IVF still be offered appropriate prenatal screening and diagnostic testing, even when PGT was performed.

Yes, PGT-A can identify whether the sampled cells have XX (female) or XY (male) chromosomes, along with detecting other sex chromosome differences. 

This is commonly described as an embryo’s "gender," but chromosomes alone cannot determine a person's gender identity. Gender identity develops as a person grows and cannot be predicted through embryo testing.

Whether this information is included or disclosed depends on the test, genetics laboratory, clinic policy, and the patient's stated preference. You can tell your Care Team whether you want to know this information.

PGT costs vary based on the type of testing, number of embryos, genetics laboratory, shipping fees and insurance coverage. PGT-M generally costs more because a customized "probe" (test) must be developed for the family’s specific genetic finding.

Illume Fertility’s PGT cost guide estimates laboratory testing at approximately $350 to $500 per embryo, but biopsy, embryo freezing, shipping and other fees may be billed separately.

At Illume, an experienced Financial Coordinator will review your coverage and provide a personalized estimate before testing proceeds. Additional insurance, grant and financing resources are available through Illume’s Fertility Finance Hub.

No. Preimplantation genetic testing (PGT) can only be performed on embryos created through an in vitro fertilization (IVF) cycle.

PGT is different from genetic carrier screening, which tests a patient’s, partner’s or donor’s DNA before or during treatment. Carrier screening may identify an inherited risk that leads someone to consider a certain type of PGT called preimplantation genetic testing for monogenic disease (PGT-M).

PGT is generally considered safe when embryo biopsy is performed by experienced embryologists. A few cells are removed from the trophectoderm, which is the embryo’s outer layer that later contributes to the placenta. The inner cell mass (ICM), which develops into the fetus, is never biopsied.

No laboratory procedure is entirely risk-free, and biopsy, freezing, and thawing carry a small possibility of affecting an embryo. However, the available evidence is reassuring and has not identified a clear increase in major birth defects or adverse childhood outcomes caused by embryo biopsy.

Researchers continue to study longer-term outcomes in children born after PGT. Review the current research on pregnancy and child health after embryo biopsy.

PGT results are generally available about three weeks after the genetics laboratory receives the embryo cell samples. Timing may vary based on the type of PGT, the laboratory performing the testing, and whether additional analysis is required.

PGT-M also requires a customized test to be developed before embryos can be analyzed. According to ASRM’s PGT-M guidance, this preparation may take a few weeks to several months depending on the condition and laboratory.

No. Only the small sample of cells removed during the embryo biopsy is sent to the genetics laboratory. Your embryo is stored at Illume while the sample is analyzed. This allows the genetics laboratory to complete testing without transporting the embryo itself.

If all embryos receive abnormal results, your physician and genetic counselor will review each finding with you before any decisions are made. What "abnormal" means depends on the type of PGT performed and the specific result.

For example, a PGT-A report may include whole-chromosome, segmental, or mosaic findings, which do not all carry the same implications. ASRM recommends individualized counseling for mosaic results rather than applying one rule to every embryo.

Depending on the findings, next steps may include further review with the genetics laboratory, continued embryo storage, another IVF cycle or discussion of other family-building options. No embryo disposition decision needs to be made without clear counseling and time to consider your choices.

Whenever your PGT results are uncertain, our in-house genetic counselors will explain what the findings mean and provide non-directive guidance. All Illume patients also have access to a network of vetted mental health experts who can help support you throughout the decision-making process. 

PGT-A is not automatically recommended simply because donor eggs are being used.

Egg donors are typically young, and embryos created with donor eggs generally have a lower risk of chromosome-number differences than embryos created with eggs from older patients.

However, PGT-M or PGT-SR may still be considered when an egg or sperm source has a specific genetic variant or structural chromosome rearrangement. Your Care Team can help determine whether testing would provide useful information in your situation.

Sometimes. Previously frozen embryos may be thawed, biopsied, and re-frozen in order to undergo PGT, but not every embryo is an appropriate candidate for this additional handling.

A recent systematic review and meta-analysis found that embryos undergoing additional biopsy or freeze-thaw procedures may have lower pregnancy and live birth rates than embryos biopsied and frozen once. Because the decision depends on the embryo's developmental stage, quality, freezing method, and the reason for testing, Illume’s physician and embryology teams review each case individually.

There is no required minimum number of embryos for PGT. A genetics laboratory may be able to test a single embryo, but whether doing so provides meaningful value depends on why testing is being considered.

Important factors include the age of the egg source, the type of PGT, the inheritance pattern of a known condition, the number of blastocysts available, cost, and family-building goals.

PGT does not create more embryos, and testing may result in fewer embryos being considered for transfer. Your physician and genetic counselor can help you weigh the potential information gained against the cost and limitations of testing.