Genomics informed Assisted Fertility Technology Boost Successful Pregnancy by 70%
2025-07-25
Approximately 1 in 6 individuals or couples face difficulties conceiving naturally, according to the World Health Organisation (WHO)'s statistics. On the other hand, assisted fertility cycles with the support of genetic testing improve implantation and pregnancy rates by as much as 70%.
Precision medicine of integrating preimplantation genetic testing (PGT) into In vitro fertilization (IVF) offers the ultimate solution. Doctors can now screen embryos for chromosomal disorders and single-gene mutations before implantation, increasing the chances of a healthy pregnancy.
This World IVF Day on July 25th, we celebrate the technology that gave families suffering from infertility a possible solution. Genetic sequencing guided IVF is transforming reproductive medicine from a numbers game into a targeted strategy for building healthy families.
Stopping Inherited Disease Before Birth
IVF involves fertilizing an egg with sperm outside the body and implanting the resulting embryo into the uterus. While IVF has long served as a lifeline for couples with infertility or recurrent pregnancy loss, it has not guaranteed that the embryos chosen for transfer are genetically healthy.
PGT, based on high-throughput sequencing, helps screen embryos before implantation, allowing doctors to identify chromosomal abnormalities or single-gene disorders. Only the healthiest embryos are selected. For families at risk of transmitting serious inherited diseases, PGT offers a scientific solution to stop the cycle of transmission.
The study published in the Journal of Assisted Reproductive Genetics shows that IVF cycles using PGT improve implantation and pregnancy rates by as much as 70%, while also significantly lowering the risk of miscarriage. Genetic counseling alongside PGT provides critical support for clinical decision-making and helps families understand their options.
IVF Facing New Challenges
The Newcastle Fertility Centre at Life launched a trial of mitochondrial replacement therapy in 2017. The technique uses healthy mitochondrial DNA from a donor egg in combination with the mother’s egg and father’s sperm to prevent the inherited disease. The results were published today in the New England Journal of Medicine in July this year.
However, some of the children born through this approach showed signs of reversal. Oxford University reproductive genetics expert Dagan Wells noted that three out of eight children exhibited an increase in the proportion of abnormal mitochondria by the time of birth, according to CBS News. The reversal remains poorly understood and raises important questions about mitochondrial behavior and long-term safety.
The known disease-causing genes are only part of the story. Much of the DNA sequence still holds information yet to be understood. Advances in sequencing technologies are enabling deeper study of how DNA and RNA control the proteins crucial for early human development. These discoveries may one day inform new embryo screening methods, helping identify even more subtle or complex risks before implantation.
Accessibility Remains Lacking
Studies also show that inherited disease prevention with assisted reproductive technologies greatly reduces the costs of care by 98.5%. A Stanford study showed that the expenditure for the disease can be reduced from $1.7 million to $25,000, which shows significant improvement in financial relief for both the family and healthcare system.
Despite these advancements, access remains a major concern. “We have the capability to prevent these diseases with advances in prenatal genetic diagnostic testing combined with IVF,” said Kevin Schulman, MD, director of the Clinical Excellence Research Center at Stanford Medicine. “But many benefit designs, especially for public programs such as Medicaid, have not kept pace with these advances.”
This new research could potentially help health officials worldwide make a more informed decision about whether to add coverage for PGD-IVF for single-gene-defect diseases.
This July 25, World IVF Day marks not only the celebration of families created through science, but also the reminder that science must be accessible. For couples considering IVF, genetic counseling and preimplantation testing offer a clearer path to a healthy child. For the medical community, the challenge remains in expanding access, deepening understanding, and delivering on the promise of precision reproductive medicine.
About BGI Genomics
BGI Genomics, headquartered in Shenzhen, China, is the world's leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.
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