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How & When is PGT Performed

Preimplantation Genetic Testing (PGT) is performed by sampling the developing embryo at the appropriate time point(s) during an In Vitro Fertilization (IVF) cycle.

Reproductive Genetic Innovations customizes the testing strategy to obtain the most accurate diagnosis for a patient’s embryos. Our scientists and genetic counselors work with you and your physician to determine the optimal testing plan for each individual case, based on individual needs in concert with the doctor’s recommendations.

The PGT Process:

When and How Do We Get Started? 

In order for case review to begin, RGI will need to receive a test requisition form from a healthcare provider along with any genetic reports, if applicable. The patient should NOT start IVF stimulation medications until the PGT setup is complete. RGI will contact the IVF center (and the patient) once the PGT setup is complete. Setup cannot be started until completion of patient counseling, processing of necessary paperwork (such as a HIPAA form, consent documents, financial agreements/clearance, and other paperwork) as well as receipt of necessary DNA samples. Setup and DNA samples are not necessary for aneuploidy testing (PGT-A). We ask that the IVF center and patients keep RGI informed of important dates such as medication start dates, stimulation start dates and hCG administration.

PGT results are typically ready within 7 to 10 business days. Once results are understood, the process of embryo selection can determine which are most suitable for transfer. Embryos remain cryo-preserved (frozen) and available for future embryo transfer.

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What you may need

Patients pursuing PGT-M for a single gene condition or PGT-SR for a translocation/chromosomal rearrangement should provide a copy of their genetic reports.

Patients undergoing single gene testing (PGT-M) will receive a DNA Collection Kit containing all needed materials to collect DNA necessary for PGT setup. If deemed necessary by our lab, a kit may be sent for patients undergoing translocation/inversion testing. This will be determined during the review of reports. View our cheek swab instructions here.

PGT-M setups for single gene cases take 3-6 weeks for common conditions, and up to 8 weeks for complex cases. Setup for translocation/inversion cases take 3-5 weeks, although a setup for such cases is not typically required.

 

Counseling

An RGI Board Certified Genetic Counselors will review the PGT process during a consultation with the patient and will coordinate the necessary paperwork and samples to get started. Genetic Counseling is necessary for every PGT-M, PGT-SR and PGT-HLA patient, consulting is recommended for PGT-A patients as well. Counseling is provided at no extra cost to patients by our licensed genetic counselors, available to discuss prenatal testing options with patients and help guide them every step of the way.

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ICSI is required for all PGT cases.

Intracytoplasmic Sperm Injection (ICSI) is a method of artificial feralization preferred for ALL preimplantation genetic testing, including single gene (PGT-M) and aneuploidy (PGT-A) testing.

How is PGT performed?

PGT is preformed on biopsy samples obtained from a blastocyst embryo.

Blastocyst / Trophectoderm Biopsy

A blastocyst is an embryo that has developed to the Day 5 —6 stage and will contain around 100 cells.

Blastocyst biopsy involves the removal of a small number of cells from the outer layer, known as the trophectoderm. Blastocyst testing typically requires that embryos are cryopreserved (frozen) after biopsy. They are then tested at RGI to determine embryos to transfer. Later they are thawed for the transfer (FET) by the clinic. This biopsy method and testing provides optimal accuracy for diagnosis of single gene disorders (PGT-M) and/or 24 chromosomes testing for aneuploidy (PGT-A).

Watch a biopsy here

Innovative No Laser assisted Trophectoderm Biopsy

Innovative no laser assisted Trophectoderm Biopsy is performed by RGI’s embryologists on day 5 of human embryo development for diagnosis of Single Gene Disorders (PGT-M) and/or 24 chromosomes testing for aneuploidy (PGT-A).

Next-Generation Sequencing

Next-Generation Sequencing is a method in which the DNA sequence of the embryo biopsies is directly analyzed. This is used primarily to identify if there are extra or missing copies of chromosomes for PGT-A testing. This testing may sometimes detect smaller pieces of duplicated or deleted chromosomal material. The optimal accuracy is obtained when performed on blastocyst (day 5/6) embryo biopsy.

Developments in Next-Generation Sequencing for chromosomal rearrangements (PGT-SR) is used for detection of rearranged translocated fragments no smaller than 4-5 Mbp. The method detects not only unbalanced embryos, but also allows identifies aneuploid embryos. A special family-specific design is used for distinguishing balanced from normal embryos. For smaller fragments, a different design is required, which should be discussed in advanced.

Patients can contact RGI directly to get started. Medical providers are able to send referral information through the PGT requisition form prior to the start of a patient’s IVF cycle.
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Requisition form

The PGT Requisition form must be completed by the IVF center once the patient has been calendared for their cycle.

Reproductive Genetic Innovations has been performing PGT-M since its inception in 1989, and remains one of the most active centers offering preimplantation genetic testing in the world. Our scientists were the first to develop a strategy for preimplantation genetic testing for single genes that is optimized for HLA matching. RGI also offers testing for all 24 chromosomes, using Next-Generation Sequencing.

RGI laboratory staff has extensive experience in the most current, state-of-the-art techniques, offering customized test development processes that offer significantly more comprehensive results than other providers.