Patau Syndrome Market

Market Overview:

The 7 major patau syndrome markets reached a value of USD 502.0 Million in 2024. Looking forward, IMARC Group expects the 7MM to reach USD 1,062.3 Million by 2035, exhibiting a growth rate (CAGR) of 7.06% during 2025-2035.

The patau syndrome market has been comprehensively analyzed in IMARC's new report titled "Patau Syndrome Market: Epidemiology, Industry Trends, Share, Size, Growth, Opportunity, and Forecast 2025-2035". Patau syndrome is a less common genetic condition brought about by trisomy 13. The condition occurs as a result of an additional copy of chromosome 13, resulting in critical developmental abnormalities, such as congenital heart abnormalities, brain defects, cleft lip/palate, polydactyly, and numerous organ malformations. Infants affected by the condition usually have extreme intellectual disabilities and significantly shortened life spans, with most cases ending in death in the first year of life because of extreme complications. The diagnosis of Patau syndrome is mainly by prenatal screening, e.g., non-invasive prenatal testing (NIPT), maternal serum screening, or ultrasound scanning, to identify structural defects. Confirmation is done by karyotyping or fluorescence in situ hybridization (FISH) to detect chromosomal defects. Diagnosis after birth is based on clinical assessment and genetic testing. Because of the severity of the symptoms, treatment is supportive and palliative, aimed at symptom management, surgical procedures for congenital abnormalities, and multidisciplinary interventions to improve the quality of life in affected infants.

The increasing rate of advanced maternal age pregnancies, which is an established risk factor for chromosomal disorders, is one of the main drivers in the Patau syndrome market. As women become older, there are increasing occurrences of trisomy 13, promoting more demand for early diagnosis and screening technologies. In addition to this, rapid growth in genetic testing like NGS and enhanced carrier screening has facilitated enhanced rates of early detection, thus enhancing prenatal decision-making. The growing use of non-invasive prenatal testing (NIPT) is also driving market growth by offering precise and early diagnoses with little risk to the fetus. Additionally, advancements in fetal surgery methods provide potential treatments for congenital defects, although their use is still limited because of the severity of the condition. Advances in pediatric palliative care and neonatal intensive care services are improving the quality of life for affected babies, fueling market growth. Increasing awareness of genetic counseling services is also increasing demand, as medical professionals prioritize informed decision-making for parents. Furthermore, new research into gene therapy and targeted interventions may unlock new possibilities in the market, even with current treatment constraints.

IMARC Group's new report provides an exhaustive analysis of the patau syndrome market in the United States, EU4 (Germany, Spain, Italy, and France), United Kingdom, and Japan. This includes treatment practices, in-market, and pipeline drugs, share of individual therapies, market performance across the seven major markets, market performance of key companies and their drugs, etc. The report also provides the current and future patient pool across the seven major markets. Furthermore, the current treatment practice/algorithm, market drivers, challenges, opportunities, reimbursement scenario, unmet medical needs, etc., have also been provided in the report. This report is a must-read for manufacturers, investors, business strategists, researchers, consultants, and all those who have any kind of stake or are planning to foray into the patau syndrome market in any manner.

Recent Developments:

• In 2024, LifeCell, an Indian diagnostics company, introduced "Pentastic," a prenatal test designed to detect genetic abnormalities, including trisomy 13. Conducted between 11 to 13 weeks and 6 days of pregnancy, this test incorporates five analytes—PAPP-A, free hCGß, AFP, Inhibin-A, and PIGF—to improve detection rates. Compared to conventional screening methods, Pentastic offers a higher detection rate of 98% with a lower false positive rate of 1.2%, providing expectant parents with more accurate and affordable diagnostic options.

Key Highlights:

• Patau Syndrome results from an extra copy of chromosome 13 in the body's cells, leading to severe intellectual disability and physical abnormalities.
• Common features include heart defects, brain or spinal cord abnormalities, small or poorly developed eyes (microphthalmia), extra fingers or toes (polydactyly), cleft lip and/or palate, and weak muscle tone (hypotonia).
• Trisomy 13 occurs in approximately 1 in 16,000 newborns.
• Due to multiple life-threatening medical problems, many infants with Patau syndrome die within their first days or weeks of life. Only 5% to 10% survive past their first year.
• In some cases, individuals may have mosaic trisomy 13, where the extra chromosome 13 is present in only some of the body's cells, often resulting in milder symptoms.

Time Period of the Study

• Base Year: 2024
• Historical Period: 2019-2024
• Market Forecast: 2025-2035

Countries Covered

• United States
• Germany
• France
• United Kingdom
• Italy
• Spain
• Japan

Analysis Covered Across Each Country

• Historical, current, and future epidemiology scenario
• Historical, current, and future performance of the patau syndrome market
• Historical, current, and future performance of various therapeutic categories in the market
• Sales of various drugs across the patau syndrome market
• Reimbursement scenario in the market
• In-market and pipeline drugs

Competitive Landscape:

This report also provides a detailed analysis of the current patau syndrome marketed drugs and late-stage pipeline drugs.

In-Market Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Late-Stage Pipeline Drugs

• Drug Overview
• Mechanism of Action
• Regulatory Status
• Clinical Trial Results
• Drug Uptake and Market Performance

Key Questions Answered in this Report:

Market Insights

• How has the patau syndrome market performed so far and how will it perform in the coming years?
• What are the markets shares of various therapeutic segments in 2024 and how are they expected to perform till 2035?
• What was the country-wise size of the patau syndrome market across the seven major markets in 2024 and what will it look like in 2035?
• What is the growth rate of the patau syndrome market across the seven major markets and what will be the expected growth over the next ten years?
• What are the key unmet needs in the market?

Epidemiology Insights

• What is the number of prevalent cases (​2019-2035) of patau syndrome across the seven major markets?
• What is the number of prevalent cases (​2019-2035​) of patau syndrome by age across the seven major markets?
• What is the number of prevalent cases (2019-2035​) of patau syndrome by gender across the seven major markets?
• How many patients are diagnosed (2019-2035) with patau syndrome across the seven major markets?
• What is the size of the patau syndrome patient pool (2019-2035) across the seven major markets?
• What would be the forecasted patient pool (2025-2035) across the seven major markets?
• What are the key factors driving the epidemiological trend of patau syndrome?
• What will be the growth rate of patients across the seven major markets?

Patau Syndrome: Current Treatment Scenario, Marketed Drugs and Emerging Therapies

• What are the current marketed drugs and what are their market performance?
• What are the key pipeline drugs and how are they expected to perform in the coming years?
• How safe are the current marketed drugs and what are their efficacies?
• How safe are the late-stage pipeline drugs and what are their efficacies?
• What are the current treatment guidelines for patau syndrome drugs across the seven major markets?
• Who are the key companies in the market and what are their market shares?
• What are the key mergers and acquisitions, licensing activities, collaborations, etc. related to the patau syndrome market?
• What are the key regulatory events related to the patau syndrome market?
• What is the structure of clinical trial landscape by status related to the patau syndrome market?
• What is the structure of clinical trial landscape by phase related to the patau syndrome market?
• What is the structure of clinical trial landscape by route of administration related to the patau syndrome market?