What is the prevalence of Trisomy 13 Syndrome / Patau Syndrome?

Trisomy 13 Syndrome, also known as Patau Syndrome, is a rare chromosomal disorder with an estimated incidence of approximately 1 in 8,000 to 1 in 15,000 live births globally. Because many pregnancies affected by Patau Syndrome result in miscarriage or stillbirth, the true prevalence of the condition in the general population is significantly lower than its birth incidence.

What is the incidence and prevalence of Patau Syndrome?

The incidence of Trisomy 13 Syndrome varies by study, but the consensus among clinical geneticists is that it occurs in about 1 in 10,000 live births. It is classified as a rare disease. Because of the high rate of pregnancy loss associated with the condition, the number of individuals currently living with Patau Syndrome is relatively small compared to other chromosomal trisomies like Down syndrome. Data from the DiseaseMaps.org community, which includes 31 individuals, provides a vital real-world perspective on the experiences of families navigating this diagnosis.

Are there demographic differences in Trisomy 13 Syndrome?

Research indicates that Trisomy 13 Syndrome does not show a strong preference for specific ethnic or geographic populations. However, the prevalence is notably linked to maternal age; the risk of having a child with Patau Syndrome increases as the maternal age at conception increases. Regarding gender distribution, the condition affects both males and females, though some clinical literature suggests a slightly higher frequency of female live births in certain cohorts.

Why is accurate data for Patau Syndrome challenging to collect?

Accurate epidemiological data for Trisomy 13 Syndrome is difficult to capture due to several factors:

• High rates of prenatal loss: Many cases are identified via prenatal screening and result in pregnancy termination or natural miscarriage, meaning they are not always captured in live-birth registries.


• Underdiagnosis: In cases of mosaicism, where only some cells carry the extra chromosome, the physical symptoms of Patau Syndrome may be mild, potentially leading to diagnostic delays.


• Varied reporting: Different countries and health systems use varying criteria for recording rare chromosomal anomalies in birth defect registries.

Next steps

• Consult with a clinical geneticist to discuss recurrence risks and genetic counseling.


• Connect with the 31 members of the DiseaseMaps.org community to share experiences and find support.


• Review resources from the NIH GARD for the latest clinical trial information and research updates.

Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment; always seek the advice of your physician or qualified health provider.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Patau Syndrome.


• Orphanet: Trisomy 13 (ORPHA:885).


• OMIM (Online Mendelian Inheritance in Man): Chromosome 13, Trisomy 13.


• Support Organization for Trisomy 18, 13, and Related Disorders (SOFT).