Ovation News

New Research: Artificial Intelligence Non-Invasively Detects Chromosome 21-Linked Genetic Disorders


A study by Ovation Fertility and Life Whisperer used artificial intelligence to accurately detect aneuploidy of chromosome 21, which causes Down syndrome. The study is also the first to identify a specific chromosomal abnormality – trisomy 21 – based on morphological assessment through AI.

Ovation Fertility/Life Whisperer collaborative study validates first non-invasive technology to identify specific chromosomal abnormalities using morphological assessment through artificial intelligence

A recent, international collaborative study by U.S.-based Ovation Fertility and Australia-based Life Whisperer suggests that artificial intelligence (AI) models, applied to 2D images of Day 5 blastocysts, can non-invasively detect aneuploidy, specifically related to chromosome 21 – the chromosome linked to Down syndrome – with a high degree of accuracy. The chromosome research study is also the first time a non-invasive technology has been able to identify a specific chromosomal abnormality – trisomy 21 – based on morphological assessment through AI.

In this study, researchers used new AI technology from Australia-based Life Whisperer to evaluate 2D static images of embryos created through completed IVF cycles at Ovation Fertility IVF laboratories, taken before biopsy and transfer. Researchers analyzed embryo images taken from a standard microscope camera using the AI tool, and then compared the results to Ovation Fertility’s documented corresponding chromosomal test result or pregnancy outcome for each embryo, along with the morphological grade assigned by the embryologist. This is the first U.S. study to successfully apply AI by deep learning through computer vision to embryo selection.

“Trophectoderm biopsy is technically challenging and invasive, but is currently the method of choice for the chromosomal screening of embryos,” says Tex VerMilyea, Ph.D., HCLD, Ovation Fertility’s Austin laboratory and operations director. “Low-invasive techniques for preimplantation genetic screening are a hot topic, leading to alternative ways to analyze DNA from the embryonic blastocoel fluid of a developing blastocyst – but that method still requires the use of an ICSI pipette to puncture the embryo and aspirate the fluid. AI embryo analysis offers a truly non-invasive approach to identifying aneuploid embryos on the basis of morphology.”

Life Whisperer’s AI embryo analysis technology will be widely available in 2019, offering embryologists a non-invasive tool for selecting which embryo created through an IVF cycle is most likely to result in a live birth and healthy baby. Other non-invasive tools currently being evaluated by researchers include genetic testing of cell-free embryonic DNA found in the culture media in which blastocysts are grown, as well as morphokinetic assessment of embryo development to detect direct uneven cleavage and chaotic cellular divisions by time-lapse technology.

While preliminary data from this chromosome research study is convincing, additional validation with larger data sets is ongoing.

About Ovation Fertility™

Ovation Fertility is a national network of reproductive endocrinologists and scientific thought leaders focused on reducing the cost of live birth through more efficient and effective fertility care. Ovation Fertility’s IVF and genetics laboratories and affiliated practices work collaboratively to raise the bar with state-of-the-art, evidence-based fertility services that give hopeful parents the best chance of a successful pregnancy. Physicians partner with Ovation Fertility to offer their patients advanced preimplantation genetic testing. Ovation Fertility also provides donor eggs that come with the world’s first Euploid Embryo Guarantee™, as well as secure frozen egg, embryo and sperm storage; consultative services to help IVF laboratories improve quality and performance; and fertility preservation programs that enable more women to freeze their eggs and build future families. Learn more about Ovation Fertility’s vision of a world without infertility at www.OvationFertility.com.

About Life Whisperer

Life Whisperer applies non-invasive AI-driven image analysis to improve the selection of viable embryos for IVF transfer. Using deep learning, computer vision, statistics and physics techniques, Life Whisperer identifies morphological features that constitute a healthy embryo which are often invisible to the human eye. Importantly, Life Whisperer does not require significant process change or costly hardware. Life Whisperer is a web-based decision-support tool for IVF clinics that allows on-demand access and upload of standard microscope images, where its proprietary selection models are applied, returning an instant report on the viability of each embryo. Life Whisperer also stores images and outcome data in a central data repository. Life Whisperer’s goal is to improve IVF success rates and reduce cost and emotional burden on couples by selecting the best embryos. Learn more about Life Whisperer at www.LifeWhisperer.co.


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