Fertility and Sterility Journal Club On-Demand: Cell-Free DNA for Aneuploidy Screening in Embryos

Last week, Progenesis CEO, Dr. Nabil Arrach, joined other experts in assisted reproductive technology to discuss the recent Fertility and Sterility publication, Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos.” The discussion took place via the Fertility and Sterility online Journal Club and was streamed live to viewers on Thursday, November 15th.

If you weren’t able to tune in for the live event, you can still catch the intriguing discussion on this exciting topic through an “On Demand” option. Simply follow THIS LINK. You will be prompted to enter your email address and then redirected to the taped version of the Journal Club. Enjoy!

Cell-free DNA for aneuploidy screening in embryos? Join the discussion

Progenesis is dedicated to innovation in reproductive health. As such, our expert scientists are constantly working to improve our products and practices through research and development.

We recently collaborated on a study investigating the use of cell-free DNA for aneuploidy screening in embryos. The manuscript detailing this study, “Pushing the limits of detection: investigation of cell-free DNA for aneuploidy screening in embryos,” was published in the August 2018 edition of Fertility and Sterility, the official journal of the American Society of Reproductive Medicine.

This week we learned that our study has been selected for Fertility and Sterility’s upcoming Journal Club Global. The event will be live-streamed on Thursday November 15th at 10AM PST (1PM EST).

REGISTER for the online event to join in the discussion of this exciting topic!

Progenesis CEO to Present in Mexico

Progenesis, Inc is excited to present at the Inducción de Ovulación y Manejo de Consultorio de la Infertilidad workshop this Friday, October 26, 2018, in Tijuana, Mexico. Our own Dr. Nabil Arrach, CEO, will be sharing his expertise about genetic diagnostics in the reproductive field. Specifically, Dr. Arrach will be addressing:

  • Best practices for embryo biopsy and PGT-A testing
  • Current challenges in PGT-A testing
  • Future directions in non-invasive spent media testing

The event will be hosted by the College of Obstetrics and Gynecology of Tijuana and the Mexican Association of Reproductive Medicine. Check out the full lineup below.

We hope to see you there!

Progenesis, Inc. Receives Accreditation from College of American Pathologists (CAP)

La Jolla, CA — October 17, 2018 — Progenesis, Inc, an industry leader in reproductive genetics, announced today that its clinical laboratory has received accreditation from the College of American Pathologists (CAP), meeting the highest standard of excellence in clinical laboratory practices. This accreditation comes after successful completion of the CAP inspection process and adds Progenesis, Inc, to an elite group of laboratories that operate at the greatest level of quality standards.

The CAP Laboratory Accreditation Process is an international program designed to recognize clinical labs that have achieved quality beyond that which is required for regulatory compliance. During the accreditation process, inspectors meticulously examine the clinical laboratory’s records and quality control procedures. They also assess the laboratory’s staff qualifications, equipment, facilities, safety program, and overall management to ensure it meets CAP’s diverse and stringent requirements.

“In the last few years, Progenesis’ highest priority was to develop stringent quality control and quality assurance programs with a fully automated LIMS [Laboratory Information Management Solution]. CAP accreditation was a necessary step to enforce our commitment to quality,” said Dr. Nabil Arrach, CEO at Progenesis, Inc.

About the College of American Pathologists — The College of American Pathologists (CAP) was founded in 1946 and is the world’s largest organization composed exclusively of pathologists certified by the American Board of Pathology. It is widely considered to be the leader in laboratory quality assurance. The CAP is an advocate for high-quality and cost-effective medical care. For more information, visit www.cap.org.

About Progenesis — Founded in 2015, Progenesis, Inc, is an industry leader in reproductive genetics. The San Diego based company uses cutting-edge technology to develop and offer a wide range of non-invasive, customizable genetic tests and services for patients on their family planning journey. Progenesis, Inc, is the first company in the U.S. to offer Next Generation Sequencing (NGS) for preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD), offering the most accurate testing in the IVF field. The company’s clinical lab is CLIA licensed and CAP accredited. Learn more at www.progenesis.com

Understanding PGT-M

Preimplantation Genetic Diagnosis

Preimplantation Genetic Testing for Monogenic/Single Gene Defects (PGT-M) is a technique used by specialized medical laboratories to select embryos not found to carry specific genetic disorders prior to their transfer into a woman’s womb. It is also known as Preimplantation Genetic Diagnosis (PGD).

Why is PGT-M used?

PGT-M is normally used in an attempt to eliminate the risk of passing a specific genetic disorder from the parents to their child. For example, a parent carrier of inherited pancreatic disease may appear to be normal but would have a greater chance of conceiving a child with the disease.

Image credit: New Hope Fertility

PGT-M should not be confused with Preimplantation Genetic Screening (PGS). Couples who seek PGT-M with IVF treatment don’t necessarily suffer from infertility. In fact, many PGT-M candidates are perfectly fertile. PGS, unlike PGT-M, is a genetic screening approach used to rule out the routine chromosome abnormalities that reduce pregnancy rates and increase miscarriage rates in infertile couples.

How many types of PGT-M are there?

Single gene mutations

Nucleic acids (DNA) are the building blocks of our genetic material. They are represented in four different types of molecules (A, T, G, and C). Single gene mutations include substitution, for example, the replacement of an A for a G or a C for a T, deletions, and insertions of at least one nucleotide. These genetic alterations can happen by chance, or they may be inherited by children from their parents. Although PGD can identify either type of mutation, it is normally used to identify those an embryo would receive from parents who are carriers of a particular genetic abnormality.

Not all genetic alterations are fatal and not all mutations cause disease. Sometime mutations are in a non-coding chromosomal region leading to no apparent clinical effect. Other mutations may be in a area of coding DNA but are not translated into an amino acid change or do not result in any negative effect. These are silent mutations.

When mutations occur in a coding region they are usually translated into a amino acid change and thus a change in the structure of a protein. The mutation may have an impact on health. When the mutation alters a biological process, a protein function, or regulatory pathway, it can lead to a clinic effect, e.g., cancer, inherited disorders, etc.


Translocations are common chromosomal alterations that often impact health. Translocations are generally divided into two types: balanced or unbalanced. Balanced translocations consist of an exchange of large chromosomal regions between two chromosomes, with no net loss or gain of DNA. These events are difficult to detect using PCR-based techniques. An unbalanced translocation, however, is generally detectable, especially when the chromosomal gain or loss is large (over 10MB).

How is PGD conducted?

The most common way to perform PGT-M for a single mutation is Realtime PCR (RT-PCR), a technique that relies on two fluorescent probes to detect a single mutation, one probe for the mutant allele (gene) and a second probe for the non-mutated allele (gene). RT-PCR has a considerable rate of non-conclusive results and is prone to contamination.

For the first time in the field of IVF, Progenesis brings Next Generation Sequencing (NGS) as a viable alternative to RT-PCR. NGS can read the mutation of interest directly with a coverage and sensitivity that is unmatched by RT-PCR because NGS quantifies the representation of each allele present.

To learn more about PGT-M at Progenesis, click here.

Overview of PGT Technology

For the past few years, the use of array comparative genome hybridization (aCGH) offered a substantial improvement in preimplantation genetic screening (PGS), increasing the number of tested chromosomes from a handful to 24 chromosomes. Unfortunately, this seemingly improved technology came at a cost since aCGH is estimated to have at least 2% error rate.

What makes array CGH prone to errors?

Array CGH is an indirect measurement as it relies on hybridization signals. During the hybridization process, clinical samples are labeled with a fluorescent dye and then hybridized against an array of known chromosome regions. Signals coming from each array are then scanned and analyzed using normal male and female references.

One key limitation of array CGH and other hybridization techniques is the susceptibility to signal saturation. In the case of PGS, hybridization signals arising from multiple chromosomes are beyond the aCGH sensitivity level, thus preventing the detection of polyploidy which is the presence of more than the two normal sets of chromosomes.

A second technical limitation of aCGH is detection of sex chromosome abnormalities such as Triple X (XXX), Klinefelter (XXY), or XYY syndromes. While failure to detect Triple X is due to the saturation issue, the limited detection of XXY and XYY syndromes is a result of aCGH’s limited sensitivity in Y chromosome detection.

The Y chromosome is relatively small compared to the X chromosome and it is riddled with repetitive sequences which present challenges for probe design and detection using aCGH. Considering this, it is not surprising that gender selection by aCGH is sometimes inconclusive due to the same effect.

Impact on IVF outcome

Misdiagnosis reduces implantation and pregnancy success rates, and it is linked to the transmission of genetic disorders to newborns, not to mention a psychological and financial impact on patients. For this reason, clinicians, researchers, and IVF professionals are constantly searching for new diagnostic tools with higher accuracy and lower cost for patients.

Alternative and Future Trend

Next Generation Sequencing has revolutionized the field of genetic testing, and preimplantation genetic diagnosis is not an exception. Today, with recent technology improvements, NGS is a practical and affordable option for IVF centers that demand faster, more reliable, and more accurate testing for their clients. In contrast to aCGH, Next Generation Sequencing provides direct sequencing of actual embryo DNA at single nucleotide level, providing coverage, sensitivity, and precision superior to any existing technology.

Progenesis at Pacific Coast Reproductive Society

We at Progenesis were very exited to present Next Generation Sequencing for Embryo Testing at the 63rd Annual Meeting at Pacific Coast Reproductive Society.

ASRM Batimore 2015

We had a great time in Baltimore at ASRM 2015! It was a pleasure meeting so many wonderful people and discussing our PGS/PGD services.


Southern CA Assisted Reproductive Biologist’s (SCARB) next meeting takes places on Dec. 15 at El Adobe de Capistrano. Nabil Arrach, CEO of Progenesis, will be giving a talk on “The Significance of Mitochondrial DNA Analysis in Preimplantation Genetic Testing.”

You can RSVP to this event by visiting http://www.scarbsocal.com/#!our-next-event/cee5. Don’t miss out on this opportunity for learning, good food, and good company. We hope to see you there.

Upper Egypt Assisted Reproduction Symposium

Nabil Arrach, CEO of Progenesis, will be traveling to Egypt to participate as a speaker in the Upper Egypt Assisted

Reproduction Symposium (UEARS) on February 4-5. Dr. Arrach will be speaking on topics he is strongly passionate about:

  • The importance of Mitochondrial DNA Analysis in Preimplantation Genetic Testing
  • The Future of Next Generation Sequencing in In-Vitro Fertilization

Dr. Arrach is excited for this opportunity to discuss his research with scientists from around the world.

For more information on UEARS , visit  http://www.uears.org.