Global Preimplantation Genetic Diagnosis Market By Test Type (Preimplantation Genetic Screening, Preimplantation Genetic Diagnosis, and Comprehensive Chromosomal Screening), By Technology (Next Generation Sequencing, Polymerase Chain Reaction, and Microarray), By Application (Genetic Disorder Prevention, Infertility Treatment, and Sex Selection), By End-user (Research Laboratories, Fertility Clinics, and Hospitals), Region and Companies – Industry Segment Outlook, Market Assessment, Competition Scenario, Trends and Forecast 2024-2033

Report Overview

The Global Preimplantation Genetic Diagnosis Market size is expected to be worth around US$ 2.4 billion by 2034 from US$ 0.9 billion in 2024, growing at a CAGR of 10.4% during the forecast period 2025 to 2034. In 2023, North America led the market, achieving over 39.6% share with a revenue of US$ 0.4 Billion.

Increasing demand for advanced reproductive technologies and genetic testing is driving the growth of the preimplantation genetic diagnosis (PGD) market. PGD allows for the identification of genetic abnormalities in embryos before implantation, offering significant benefits for couples at risk of passing on genetic disorders. The rising focus on personalized healthcare, where genetic insights guide medical treatments, further contributes to PGD’s growing adoption.

PGD is widely used in in vitro fertilization (IVF) procedures to screen for inherited diseases such as cystic fibrosis, Down syndrome, and sickle cell anemia. This technology also plays a key role in preventing the transmission of genetic diseases to future generations, offering opportunities for improving family planning and reproductive health outcomes.

India’s ‘Newborn Screening Initiative,’ which aims to test over 5 million newborns each year for treatable genetic conditions by 2025, illustrates the increasing focus on genetic diagnostics at both the pre- and post-natal stages. Recent trends show the integration of PGD with next-generation sequencing (NGS) technologies, allowing for more comprehensive and accurate genetic screening.

The growing acceptance of genetic testing, coupled with the ongoing development of non-invasive techniques, presents substantial opportunities for market expansion. As awareness of genetic health increases and access to advanced reproductive technologies improves, PGD is poised to play a critical role in personalized medicine and family planning in the coming years.

Key Takeaways

• In 2023, the market for preimplantation genetic diagnosis generated a revenue of US$ 9 billion, with a CAGR of 10.4%, and is expected to reach US$ 2.4 billion by the year 2033.
• The test type segment is divided into preimplantation genetic screening, preimplantation genetic diagnosis, and comprehensive chromosomal screening, with preimplantation genetic diagnosis taking the lead in 2023 with a market share of 55.8%.
• Considering technology, the market is divided into next generation sequencing, polymerase chain reaction, and microarray. Among these, next generation sequencing held a significant share of 59.1%.
• Furthermore, concerning the application segment, the market is segregated into genetic disorder prevention, infertility treatment, and sex selection. The infertility treatment sector stands out as the dominant player, holding the largest revenue share of 54.3% in the preimplantation genetic diagnosis market.
• The end-user segment is segregated into research laboratories, fertility clinics, and hospitals, with the fertility clinics segment leading the market, holding a revenue share of 57.6%.
• North America led the market by securing a market share of 39.6% in 2023.

Test Type Analysis

The preimplantation genetic diagnosis segment led in 2023, claiming a market share of 55.8% owing to the increasing demand for genetic screening before embryo implantation. PGD allows for the detection of specific genetic disorders in embryos, making it an essential tool in assisted reproductive technology (ART). The rising awareness of inherited genetic diseases, along with advances in genomic technologies, is projected to fuel the adoption of PGD procedures.

Furthermore, the increasing preference for family planning options that ensure the birth of healthy children is anticipated to drive growth in this segment. As more couples opt for ART treatments and genetic screening, PGD is likely to become a standard part of fertility treatments, particularly for those with a history of genetic conditions or who are at risk of passing on hereditary disorders.

Technology Analysis

The next generation sequencing held a significant share of 59.1% due to its superior accuracy and ability to analyze vast amounts of genetic data in a short time. NGS technology is expected to become increasingly popular in genetic screening for preimplantation genetic diagnosis, as it offers high-resolution detection of genetic abnormalities and provides comprehensive insights into an embryo’s genetic makeup.

The ability of NGS to identify a wide range of genetic disorders and its cost-effectiveness compared to traditional sequencing methods are likely to drive its adoption in PGD. Additionally, as NGS continues to evolve with advancements in speed, accuracy, and automation, its use in reproductive medicine is expected to expand, further contributing to the growth of this segment.

Application Analysis

The infertility treatment segment had a tremendous growth rate, with a revenue share of 54.3% as more individuals and couples seek to avoid passing on genetic disorders while pursuing fertility treatments. PGD has become an essential tool for preventing genetic diseases, particularly in couples with a known history of inherited conditions or those at advanced maternal age.

As the number of infertility treatments, such as in vitro fertilization (IVF), increases, the use of PGD to screen embryos for genetic disorders is likely to rise. Additionally, the growing trend toward family balancing through sex selection is expected to drive demand for PGD in infertility treatments. As personalized medicine becomes more prevalent, the ability to select embryos based on genetic health is anticipated to become a more standard part of fertility practices, further boosting the growth of this segment.

End-user Analysis

The fertility clinics segment grew at a substantial rate, generating a revenue portion of 57.6% due to the increasing demand for advanced fertility treatments and genetic screening. Fertility clinics are likely to be the primary end-users of PGD as they offer services like in vitro fertilization (IVF) and embryo implantation, which benefit from genetic screening to ensure the health of the embryos. The rising global prevalence of infertility, combined with the growing preference for safer and more effective fertility treatments, is projected to fuel demand for PGD in fertility clinics.

Additionally, as patients seek more personalized reproductive health services, fertility clinics are anticipated to incorporate PGD as a standard offering. The increasing success rates of IVF treatments, coupled with the ability to select healthy embryos, will likely contribute to the expansion of this segment.

Key Market Segments

By Test Type

• Preimplantation Genetic Screening
• Preimplantation Genetic Diagnosis
• Comprehensive Chromosomal Screening

By Technology

• Next Generation Sequencing
• Polymerase Chain Reaction
• Microarray

By Application

• Genetic Disorder Prevention
• Infertility Treatment
• Sex Selection

By End-user

• Research Laboratories
• Fertility Clinics
• Hospitals

Drivers

Launch of Novel Genome Sequencing Services Driving the Preimplantation Genetic Diagnosis Market

The launch of novel genome sequencing services is anticipated to drive the preimplantation genetic diagnosis market significantly. In January 2024, Orchid Health introduced the first whole genome sequencing service focused on identifying specific diseases in preimplantation embryos. This innovation enhances the accuracy and reliability of detecting genetic abnormalities before implantation. Advanced sequencing technologies enable comprehensive genetic screening, reducing the risk of inherited disorders and improving success rates of assisted reproductive procedures.

Fertility clinics increasingly adopt these services to offer precise and personalized solutions for high-risk pregnancies. Rising awareness about genetic screening options encourages prospective parents to opt for preimplantation genetic testing. The integration of next-generation sequencing with diagnostic platforms accelerates the screening process, ensuring timely decision-making. Expanding applications in identifying rare genetic conditions and chromosomal abnormalities further support market growth.

Partnerships between genome sequencing companies and fertility clinics enhance accessibility to these advanced services. Innovations in data analytics tools improve the interpretation of sequencing results, boosting diagnostic accuracy. Increasing public and private investments in genetic research contribute to the development of more efficient sequencing technologies. These trends position novel genome sequencing services as a critical driver in advancing the preimplantation genetic diagnosis market.

Restraints

High Costs Are Restraining the Preimplantation Genetic Diagnosis Market

High costs associated with preimplantation genetic diagnosis are restraining the market. Advanced genome sequencing and testing procedures require sophisticated equipment, skilled personnel, and rigorous quality control measures, driving up expenses. Fertility clinics often face challenges in offering these services at affordable prices, limiting their accessibility to a wider population. The absence of comprehensive insurance coverage for genetic testing further restricts adoption, particularly in developing regions.

The cost of multiple cycles of in vitro fertilization (IVF), coupled with additional genetic screening expenses, creates a financial burden for patients. Limited awareness about the benefits of preimplantation genetic testing in certain regions exacerbates the issue. The high cost of reagents and consumables required for genetic testing further elevates the overall expenditure. Addressing these challenges requires advancements in cost-efficient technologies and supportive policies to make preimplantation genetic diagnosis more accessible.

Opportunities

Rising Government Initiatives as an Opportunity for the Preimplantation Genetic Diagnosis Market

Rising government initiatives are anticipated to create significant opportunities for the preimplantation genetic diagnosis market. In 2021, the Government of Brazil introduced the ‘Mother Baby’ program, subsidizing Non-invasive Prenatal Testing (NIPT) and Assisted Reproductive Technology (ART) procedures for high-risk pregnancies. Such initiatives enhance accessibility to advanced genetic diagnostic services for a broader population.

Governments worldwide increasingly prioritize funding for genetic testing programs to improve maternal and child health outcomes. Public health campaigns focused on educating communities about the benefits of genetic screening encourage adoption of preimplantation diagnosis. Expanding coverage of reproductive healthcare services in national health insurance schemes supports market growth.

Collaborative efforts between government agencies and private healthcare providers enhance service delivery and outreach. Subsidized programs for high-risk pregnancies reduce financial barriers, fostering the adoption of advanced diagnostic solutions. These initiatives are likely to strengthen the preimplantation genetic diagnosis market by improving affordability and accessibility of genetic testing services globally.

Impact of Macroeconomic / Geopolitical Factors

Macroeconomic and geopolitical factors significantly shape the preimplantation genetic diagnosis market. On the positive side, rising global healthcare expenditures and increased focus on fertility treatments drive demand for advanced reproductive technologies, including genetic testing. As awareness of genetic disorders and the benefits of early diagnosis grow, more patients seek personalized reproductive solutions, further fueling market growth.

However, economic recessions can lead to reduced spending on healthcare services, potentially slowing the adoption of costly genetic testing procedures. Geopolitical factors such as trade restrictions, regulatory changes, and differing standards across countries can complicate the market, disrupting the supply chain for key diagnostic tools and reagents.

Additionally, ethical concerns and varying legal frameworks surrounding genetic testing can create barriers in certain regions. Despite these challenges, the growing accessibility of fertility treatments and continued advancements in genetic technologies ensure a positive outlook for the market’s expansion.

Latest Trends

Surge in Partnerships and Collaborations Driving the Preimplantation Genetic Diagnosis Market:

Rising partnerships and collaborations are driving significant growth in the preimplantation genetic diagnosis market. High levels of cooperation between fertility clinics, genetic testing companies, and research institutions are expected to accelerate the development of next-generation reproductive technologies. These collaborations allow for the integration of cutting-edge techniques and expertise, enhancing the quality and accessibility of genetic diagnosis.

In April 2024, GenEmbryomics Limited, renowned for its cutting-edge embryo genetic testing services, formed a strategic partnership with Progenesis Inc., a leader in preimplantation genetic testing for IVF. The collaboration seeks to expand access to next-generation reproductive technologies, benefiting a wider range of patients. As more partnerships emerge, the market is likely to experience enhanced innovation and broader patient access, driving long-term growth and market penetration.

Regional Analysis

North America is leading the Preimplantation Genetic Diagnosis Market

North America dominated the market with the highest revenue share of 39.6% owing to increasing awareness of genetic disorders, advancements in reproductive technologies, and the rising demand for personalized medicine. PGD allows for the genetic screening of embryos during in vitro fertilization (IVF) procedures, enabling the selection of embryos free from specific genetic conditions.

The growing focus on preventing inherited genetic diseases, coupled with improvements in IVF success rates, has led to a surge in demand for PGD services. Additionally, increasing adoption of PGD for sex selection and the ability to screen for multiple genetic disorders simultaneously has further driven market growth. The rise in the number of IVF procedures in North America, along with the increasing number of fertility clinics offering PGD, has also contributed to the market’s expansion.

Moreover, the growing awareness of PGD as a critical tool for families at risk of passing on genetic disorders, along with ongoing advancements in genetic testing technologies, is expected to continue supporting market growth. The availability of PGD for a broader range of conditions has made it an increasingly popular choice for prospective parents in the region.

The Asia Pacific region is expected to experience the highest CAGR during the forecast period

Asia Pacific is expected to grow with the fastest CAGR owing to increasing healthcare investments, expanding IVF services, and rising awareness of genetic testing. Countries such as China, India, and Japan are likely to experience a surge in demand for PGD, as healthcare systems in these nations continue to improve and modernize.

In December 2023, Progenesis launched its Genetic Laboratory in New Delhi, along with an AI & Bioinformatics Data Centre in Chennai, underscoring the growing focus on advanced genetic solutions in India. The increasing prevalence of genetic disorders, combined with rising public awareness of PGD’s benefits, will likely drive the demand for this service.

Furthermore, government initiatives aimed at improving access to fertility treatments, along with the growing number of fertility clinics in the region, are expected to support the growth of the PGD market. With the increasing emphasis on personalized healthcare, particularly in reproductive medicine, the market for preimplantation genetic diagnosis in Asia Pacific is anticipated to grow steadily, as it becomes a critical tool for families seeking to ensure healthy pregnancies.

Key Regions and Countries

North America

• US
• Canada

Europe

• Germany
• France
• The UK
• Spain
• Italy
• Russia
• Netherland
• Rest of Europe

Asia Pacific

• China
• Japan
• South Korea
• India
• Australia
• New Zealand
• Singapore
• Thailand
• Vietnam
• Rest of APAC

Latin America

• Brazil
• Mexico
• Rest of Latin America

Middle East & Africa

• South Africa
• Saudi Arabia
• UAE
• Rest of MEA

Key Players Analysis

Key players in the preimplantation genetic diagnosis market focus on advancing genetic testing technologies, such as next-generation sequencing and PCR-based assays, to improve accuracy and reliability. Companies invest in R&D to develop comprehensive testing solutions that address inherited genetic disorders and chromosomal abnormalities.

Partnerships with fertility clinics and research institutions enhance service offerings and expand their customer base. Geographic expansion into regions with increasing awareness and adoption of assisted reproductive technologies drives growth. Many players also emphasize affordability and regulatory compliance to ensure widespread access and trust.

Illumina, Inc. is a prominent company in this market, providing cutting-edge genetic testing solutions for reproductive health, including tools for preimplantation genetic testing. The company combines innovative sequencing technologies with robust analytics to deliver accurate and actionable insights. Illumina’s global presence and commitment to advancing genomic solutions position it as a leader in this field.

Top Key Players

• Thermo Fisher Scientific Inc.
• RGI
• NxGen MDx
• Laboratory Corporation of America Holdings
• Invitae Corporation
• Igenomix
• Genea Pty Limited.
• Hoffmann-La Roche Ltd

Recent Developments

• In June 2024, NxGen MDx launched its Fetal RhD test, which operates on their existing Non-Invasive Prenatal Screen platform. This Non-Invasive Prenatal Screening (NIPS) test evaluates common chromosomal abnormalities such as Down syndrome (trisomy 21), trisomy 13, and trisomy 18, while also expanding options for detecting aneuploidy and microdeletions.
• In July 2023, Thermo Fisher Scientific Inc. introduced two innovative tools based on next-generation sequencing (NGS) for preimplantation genetic testing-aneuploidy (PGT-A). These tools, the Ion ReproSeq PGT-A Kit and the Ion AmpliSeq Polyploidy Kit, were developed specifically for use in in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) processes. This move represents the first time that research-focused reproductive health assays are available on the Ion Torrent Genexus Integrated Sequencer.

Report Scope