Patau syndrome, also known as trisomy 13, is a genetic abnormality that causes severe changes in the structure of a developing fetus. Discovered in 1960 by Dr. Klaus Patau, this disease is associated with deformities in many organs that often occur simultaneously (Khan et al., 2022). This autosomal trisomy, alongside Down’s and Edward’s syndrome, is critical to detect during prenatal screening. Although its statistical prevalence rate is approximately 1 in 5,000 births, this syndrome causes severe health issues that often lead to one’s death (Wilson et al., 2020). The knowledge of this health complication is vital for healthcare workers. This essay will discuss the genetic background and clinical aspects of Patau syndrome.
Genetic Background
This disease is linked to genetic abnormalities that can be detected during one’s pregnancy. Chromosome analysis can ensure future parents that their child does not possess this defect. An abnormal copy number of chromosome 13 indicates that a child has a significant risk of being severely handicapped (Wilkinson & Wu, 2020). There are several potential cases related to Patau syndrome that represent various phenotypes of this disease.
While trisomy is the most common example, there are examples of mosaicism and partial duplication of chromosome 13 that cause similar outcomes (Faried et al., 2020). Its occurrence further suggests the necessity of prenatal screening. Faried et al. (2020) state that Patau syndrome occurs primarily from random “non-disjunction of chromosome 13 during meiosis in 1 of the 2 gametes” (p. 207). Therefore, the genetic background of this disease enables healthcare workers to identify such a dramatic defect prior to birth correctly.
Clinical Aspects
Patau syndrome is associated with numerous clinical features that present a significant risk to a newborn’s life. One of the most common issues is cardiac malformations, such as ventricular and atrial septal defects and dextrocardia, which occur in 57 percent of all cases (Faried et al., 2020; Khan et al., 2022). In addition to heart-related problems, infants often possess improperly developed brains. Central nervous system abnormalities, such as microcephaly, present themselves in 39 percent of patients (Faried et al., 2020).
The list of symptoms is often expanded with other congenital defects. While some issues, such as postaxial polydactyly, may not present an immediate danger, lung dysgenesis further worsens the outcome (Faried et al., 2020). Determining the extent of Patau syndrome’s damage may shed light on the survivability of a child. On average, infants with Patau syndrome live approximately seven days to a month, as their brain deficiencies often cause central apnea alongside other symptoms (Wilson et al., 2020). It is essential for healthcare experts to correctly identify Patau syndrome and inform parents regarding the likely poor outcome.
Conclusion
In conclusion, Patau syndrome is a rare and deadly disease caused by genetic abnormalities that often occur at random during gestation. It is associated with an extra copy or a portion of chromosome 13 that is present in either all or some cells of an affected organism. Fetuses with Patau syndrome develop numerous severe deformities that are highly lethal and cause significant handicaps. Malformations may occur in many organs, while one’s heart and brain are most likely to possess a defect. Central apnea is the most common cause of death among children with trisomy 13. Humanity’s knowledge of this disease allows healthcare workers to provide a warning regarding a fetus’ fatal disease prior to birth, giving parents vital information for decision-making.
References
Faried, A., Laksono, B., Halim, D., Parikrama, R., Sobana, M., & Arifin, M. Z. (2020). Characteristics of the central nervous system malformations presented in trisomy 13: A single-center experience in recognizing the phenotype and genotype. Open Access Macedonian Journal of Medical Sciences, 8(C), 205–208. Web.
Khan, U., Hussain, A., Usman, M., & Abiddin, Z. U. (2022). An infant with Patau syndrome associated with congenital heart defects. Annals of Medicine and Surgery, 80. Web.
Wilkinson, M. D., & Wu, P. (2020). Suspected fetal anomalies. Obstetrics, Gynaecology & Reproductive Medicine, 30(8), 256–261. Web.
Wilson, G. N., Naga, O., & Tonk, V. S. (2020). Genetic disorders. In O. Naga (Ed.), Pediatric board study guide: A last minute review (2nd ed., p. 103–142). Springer.