United States Preimplantation Genetic Diagnosis (PGD) Market: Single-Gene Diagnosis & Hereditary Disease | Major Companies - Illumina, Inc., Thermo Fisher Scientific Inc., Agilent Technologies, Inc., Perkinelmer, Inc.

The Global Preimplantation Genetic Diagnosis (PGD) Market is poised for significant expansion, supported by rapid advances in reproductive genetics, increasing in vitro fertilization (IVF) procedures, and heightened awareness regarding hereditary disorders. The market is projected to grow at a robust CAGR during 2024-2031, driven by innovations in next-generation sequencing (NGS) and polymerase chain reaction (PCR) technologies that have revolutionized early-stage embryo screening.

PGD, a vital component of assisted reproductive technology, enables the detection of genetic abnormalities in embryos before implantation, significantly reducing the risk of inherited diseases. The increasing trend toward family planning, delayed pregnancies, and government-supported IVF programs are expected to create lucrative growth opportunities in the coming years.

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Recent Development

United States

In August 2025, Illumina, Inc. partnered with leading fertility networks to expand its NGS-based embryo testing platform, enhancing accessibility in regional clinics.

In September 2025, CooperSurgical, Inc. announced the launch of an integrated PGD service package combining sequencing, analytics, and clinical consultation for IVF centers nationwide.

Regulatory initiatives from the FDA and ASRM promoting ethical PGD use have also supported market standardization and patient trust.

Japan

Japan represents one of the fastest-growing PGD markets in Asia, supported by government-backed fertility programs and a strong emphasis on reproductive genetics research.

In July 2025, Takara Bio introduced a next-generation PCR system optimized for embryo screening, reducing turnaround time by 30%.

In September 2025, Yikon Genomics announced a collaboration with a leading Japanese university hospital to develop low-cost single-cell sequencing kits tailored for PGD applications.

Technological Progress and Genetic Screening Innovations Driving Market Expansion

The market is being reshaped by rapid innovations in molecular diagnostics and genetic testing platforms. Next-generation sequencing (NGS) and advanced polymerase chain reaction (PCR) techniques have improved the precision and efficiency of embryo testing, enabling clinicians to identify chromosomal abnormalities and single-gene mutations with exceptional accuracy.

Growing public awareness about genetic health, coupled with declining costs of sequencing, is further propelling adoption. Moreover, fertility clinics are increasingly integrating AI-driven analytics for embryo selection, enhancing success rates and minimizing invasive procedures. The trend toward personalized medicine and preventive genetics is expanding PGD's role beyond infertility management to broader reproductive decision-making.

Global Market Dynamics: Rising IVF Cycles and Genetic Disease Burden

Globally, infertility rates have increased due to lifestyle changes, stress, and delayed parenthood. According to various fertility organizations, over 2.5 million IVF cycles are performed annually worldwide, with a steady rise of 8-10% each year. As more couples pursue IVF treatments, the demand for genetic testing tools like PGD grows concurrently.

In addition, the prevalence of genetic and chromosomal disorders such as cystic fibrosis, Tay-Sachs disease, and Down syndrome has led to greater adoption of embryo screening. Healthcare systems in developed economies, including the United States, Japan, and select European nations, are integrating PGD into routine fertility treatment protocols.

Regulatory advancements, improved laboratory infrastructure, and favorable reimbursement policies are further encouraging market expansion. Meanwhile, ethical debates and high procedural costs remain moderate challenges, but continued technological refinements and accessibility improvements are expected to mitigate these barriers.

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Detailed Segmentation Analysis

By Product Type

In 2024, Reagents & Consumables dominated the PGD market, accounting for a major share due to their recurring usage in genetic testing workflows. These include PCR kits, sequencing reagents, and microarray consumables that ensure test accuracy and efficiency.

Instruments constitute another significant segment, driven by the increasing installation of advanced sequencing systems and automated sample preparation tools across fertility centers. The demand for Software & Services is also growing rapidly, as clinics rely on AI-based bioinformatics platforms to interpret genetic data, streamline lab operations, and enhance embryo selection accuracy.

By Technology

Among the technologies, Next Generation Sequencing (NGS) holds the largest share in 2024, attributed to its superior throughput and ability to detect aneuploidy and single-gene disorders simultaneously. NGS-based PGD tests provide detailed insights into embryonic health, improving implantation success rates and reducing miscarriage risks.

Polymerase Chain Reaction (PCR) remains an essential technique for single-gene and X-linked disorder detection. PCR's cost-effectiveness and precision make it a widely used technology in emerging markets.

Comparative Genomic Hybridization (CGH) continues to play a role in comprehensive chromosomal analysis, particularly in research and specialized fertility clinics. Other evolving technologies, such as SNP arrays and microfluidics, are expected to enhance diagnostic speed and sensitivity over the forecast period.

By Application

The Aneuploidy segment leads the market, reflecting the growing emphasis on chromosomal screening to improve IVF outcomes. Prevalence of chromosomal abnormalities in embryos-particularly in women above 35 years-drives this segment's demand.

Applications related to Single Gene Disorders and Structural Chromosomal Abnormalities are expanding due to increased genetic counseling and awareness. PGD for X-linked Disorders and Gender Identification has also gained traction, particularly in regions where hereditary gender-linked diseases are prevalent.

Continuous improvements in embryo biopsy and cell-free DNA testing are expected to strengthen PGD's diagnostic accuracy across all application categories.

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Regional Analysis: United States and Japan Leading Innovation and Market Expansion

United States

The United States remains the dominant market for PGD, accounting for a significant share of global revenue in 2024. The high rate of IVF adoption, presence of advanced fertility clinics, and growing insurance coverage for genetic testing are key factors fueling growth.

The nation's declining birth rate and delayed maternity trends have intensified focus on assisted reproduction, making PGD a vital component of fertility care in Japan's healthcare ecosystem.

Competitive Landscape: Key Players Reshaping the Global PGD Market
The global PGD market features a blend of biotechnology innovators and diagnostic technology providers focusing on expanding accessibility and precision.

Illumina, Inc. remains a market leader through its cutting-edge NGS platforms and comprehensive reproductive genetics solutions. Its latest advancements in sequencing accuracy and AI-based variant interpretation tools have strengthened its footprint in fertility diagnostics worldwide.

Thermo Fisher Scientific Inc. leverages its vast molecular diagnostic product range, including PCR kits and microarrays, to support PGD laboratories globally. Its commitment to scalable, user-friendly genetic testing technologies continues to drive adoption in both hospital and private fertility labs.

Agilent Technologies, Inc. focuses on microarray technologies and bioinformatics software that streamline genetic screening workflows. Agilent's partnerships with fertility research centers have enhanced its reach across North America and Europe.

PerkinElmer, Inc. has expanded its reproductive health portfolio with advanced PGD reagents and analysis systems, catering to the growing demand for early-stage embryo screening. The company's global network of clinical laboratories reinforces its service-oriented approach.

CooperSurgical, Inc., a subsidiary of The Cooper Companies, is one of the most established names in reproductive health solutions. The company's portfolio of IVF and genetic testing products, combined with strong partnerships with fertility clinics, continues to position it as a trusted player in the PGD domain.

Future Outlook: Toward Personalized Reproductive Medicine

The future of the Preimplantation Genetic Diagnosis market is centered on precision, accessibility, and ethical integration. With advancements in single-cell genomics, AI-guided embryo selection, and miniaturized sequencing systems, PGD will become a cornerstone of personalized reproductive care.

The growing shift toward genome-wide embryo screening, the integration of digital health platforms, and rising demand in emerging economies are expected to sustain double-digit growth through 2031. Market players are also investing in training programs, awareness campaigns, and cost-efficient testing solutions to democratize access to advanced reproductive genetics.

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