What is Patau Syndrome?
Patau syndrome is a condition that is less common compared to all trisomies. The condition is also known medically as Trisomy 13, meaning that there is an extra chromosome of the 13th. This then results to grave conditions such neurological defects including cardiac heart diseases. The incidence rate for this condition is noted as 1:8,000-12,000 among all live births in the United States. The prognosis of this condition is poor as the mortality rate for those affected is high. It has been noted that about a median survival age for the affected is only 2.5 days. It’s considered a lucky case if the affected child has survived at least 6 months of life and more luckier if they have reached their teens. The young are commonly affected of this condition. Since the condition portrays a great deal of fetal or neonatal demise to the affected.
The condition truly requires an immediate and intensive medical care. Once a person has been diagnosed of the condition, time and effort is essential. As mentioned above, the condition portrays neurological defect and cardiac abnormalities. Here are the following medical deficiencies accompanied by Patau syndrome:
Cardiac anomalies commonly occur. About 80% of Patau syndrome cases result to:
Patent ductus arteriosus – is a cardiac defect that involves an opening between the descending aorta and pulmonary artery. As the result, the affected shall experience decreased activity tolerance and pulmonary congestion as there is increased blood flow to the pulmonary system.
Ventricular septal defect – the cardiac ailment involves an opening communication between the two ventricles of the heart. As this happens, it is expected that the affected would have a reduced systemic blood flow. It is essential that our body system will receive oxygenated blood, but the mechanism of this condition depletes the acquisition of supplemental blood flow to the entire body, especially the vita organs.
Atrial septal defect – as most cases are reported, this cardiac problem would be asymptomatic to some of the affected. What happens to the heart is that there has been an enabling of blood flow between the left and right atria. As a result, the patient shall develop a congested heart and eventually result to other medical conditions.
Dextrocardia – another congenital heart disease that involves interchanging of the normal arrangement of the heart chambers.
Other significant effects of Patau syndrome is facial deformities such as absence of nose or proboscis. Cleft lip or palates are also a possibility. The eyes of the infant may also be affected for it would result to microphthalmia or small eyes. Hypertolerism would develop and it is characterized by the decrease in distance between organs. It may be ocular meaning involving both eyes. Another grave condition that may develop in Patau syndrome is the absence of an eye or both of the eyes of the affected. This condition is medically called anophthalmos. The child may also develop extra fingers and toes, a condition called polydactyly. Low set ears are also observed in the infants. Genital defects are also observed. The urinary system is also not spared, leading to kidney defects and abnormalities.
The condition is idiopathic in cause. There have been no proofs of the positive cause of the condition. Patau syndrome is only recognized as a condition that involves genetic abnormality or the inclusion of another chromosome, Trisomy 13. But the condition is believed to be precipitated by the increased age of the mother.
The Patau syndrome can be diagnosed through the evidence of the physical symptoms and presentation. A mere physical examination can help or assist in the diagnosis of the problem. The condition is sometimes compared with another syndrome called Edwards syndrome, so in order to find it as a distinct condition from the other, genetic testing is done. Other tests for Patau syndrome are the following:
- CT or computed tomography examination – this is an imaging study
- Magnetic resonance imaging – another form of imaging study, just like CT scan that involves taking picture of the body system and areas of the body.
- Echocardiogram – this is an ultrasound of the heart. Diagnosis of the heart conditions can assist in the association of Patau syndrome.
The treatment for Patau syndrome involves symptomatic management. As the child is suffering from a particular condition that is accompanied by Patau syndrome, the aim of the medical practitioner is to provide relief from the symptoms of the defect.
Surgical intervention is done to patients but on rare cases. This is due to the possibility of death among the affected. As surgical intervention is first withheld in the early months of the child, for their mortality rate is higher compared to those who have developed their immune system. When cases come to a point that there is an emergent need for a surgical intervention, the doctor would resort to such treatment.
As the infant developed facial deformities, providing the child equal care as of a normal child would receive is advised. The parents of the child should also be properly educated and counseled for there is a possibility that they would not accept the condition of their child.
Genetic counseling is essential in the process. This should be discussed with the couple who may have a risk to producing another offspring of the same ailment. Counseling is vital so that they shall be supported emotionally and that options are provided for them.
As mentioned above, the condition’s prognosis is poor, as this would generate for the affected to a high mortality rate. The expected life for the child with Patau syndrome is 2.5 days. This is such a small number and a tragic result from the condition. According to epidemiological reports, about 82% of the affected would die in a month’s time. A greater percentage presents itself that about 95% of cases of Patau syndrome die within 6 months. There are cases where the child would surpass 6 months, but is considered a very rare possibility.
- This is a very rare, yet very severe form of chromosomal disorder. As rare at it is, the condition is placed or listed along with the other rare conditions in the Office of Rare Diseases of the National Institutes of Health. In Europe, they noted that cases for this condition are reported to be 1 out of 2,000 persons in the world.
- When the child surpassed the expectancy age, it is expected that he or she shall be mentally retarded.
- Recurrence is indeed a possibility. Genetic counseling is a must to the parents who have had a child with Trisomy 13 or even Down syndrome.
- The condition was first identified and observed by a Danish Physician named Thomas Bartholin. It is only Dr. Klaus Patau that made asserting information and data about the disease, which is why the condition is coined after his name.
- There has been an increasing occurrence of the condition, especially in Europe. It has been noted in the years 2008 and 2009, diagnoses of Patau syndrome were 172, done as a prenatal examination. Because of this, elective abortions were done, while other lost their child through miscarriages and fetal deaths.
Patau Syndrome Pictures
Photos, Images and Pictures of Patau Syndrome…
source : eyepathologist.com