The signs of Patau syndrome become evident at birth. Although microphthalmia, cleft palate and polydactyly constitute the classic triad of trisomy 13 , not all three signs are present in all cases of Patau syndrome. The neonate presents with variable physical defects, and upon further assessment, cardiac, neurological, renal and ocular anomalies. Some of these anomalies are listed here    :
These clinical findings at birth are indicative of Patau syndrome. However, diagnosis must only be made when trisomy 13 is evident on karyotyping. Parents who opt for screening of fetal chromosomal defects can find if the fetus has an extra chromosome 13 before birth. They, then, have the option of continuing or terminating the pregnancy.
The clinical signs of Patau syndrome are similar to those of Edwards syndrome . Care must be taken, as this similarity often leads to misdiagnosis.
The clinical diagnosis of Patau syndrome is made either prenatally or at birth. In both cases, evidence of trisomy 13 on cytogenetic analysis is a sure diagnosis of Patau syndrome.
Prenatally, cytogenetic analysis can be done using chorionic villous sampling (10-13 weeks' gestation) or amniocentesis (15 weeks' gestation or later). Non-invasive methods like cfDNA from maternal blood are highly sensitive and specific, and therefore, promising .
After birth, conventional cytogenetic or FISH (Fluorescence in Situ Hybridization) studies can show trisomy 13. FISH can describe some chromosomal anomalies more accurately.
A cytogenetic analysis may reveal free trisomy 13, partial trisomy 13 or Robertsonian translocation . Free trisomy 13 rarely recurs. However, the latter two variants have a high risk of recurrence, and therefore, should be followed with cytogenetic analysis of parents. Genetic counseling should be recommended to parents with high risk of recurrence.
A neonate with Patau syndrome requires detailed workup to evaluate the severity of the condition. All systems, especially CNS and heart, should be assessed through metabolic workup and imaging studies.
Parents of such children should be recommended psychological therapy and genetic counseling. They should also be connected to support groups, comprising of other parents whose children also suffered from Patau syndrome .
Patau syndrome, like other trisomies, has no treatment. Therapy aims to support defective organs of the body, prevent complications and prolong survival of the neonate. Despite that, the prognosis remains poor.
Patau syndrome is rare, with the incidence of about 1-2 cases from 10,000 births. It is the third most frequent trisomy among live births . Like other trisomies, it is linked to maternal age  . Significant bias on basis of race or ethnicity is not evident.
Gender: Males have a decreased prognosis of survival compared to females, both at birth and later in life  .
Age: Patau syndrome is a congenital syndrome, and is present prenatally. It may be diagnosed prenatally or at birth.
The most frequent form of Patau syndrome is free trisomy 13 , in which all cells of the neonate contain an extra copy of chromosome 13. In a rarer type of trisomy 13, called mosaic trisomy 13, some cells of the neonate’s body contain three copies of chromosome 13, while some are normal.
Robertsonian translocation of chromosome 13 to another chromosome constitutes of the third and the rarest type of trisomy 13 found in neonates with Patau syndrome.
There is no guideline for the prevetion of Patau syndrome.
Patau syndrome, more specifically known as trisomy 13, is a severe condition of newborns who have an extra copy of chromosome 13. It is characterized by structural defects, poor neurological performance, heart anomalies and other conditions at birth. Although rare compared to other trisomies, it is untreatable and holds a poor prognosis for the newborn.
Patau syndrome is a genetic defect that presents at birth as physical, neurological, cardiac, ocular, renal and genital defects due to an extra copy of chromosome 13. It is very rare. It is not an inherited disease, although some of its variants have a higher risk of recurrence. Prognosis is very poor, as many children are stillborn or die within few days of birth. There is no cure for a child with Patau syndrome, but you can prevent recurrence by prenatal screening and karyotyping of future children at fetal stage.
What are the symptoms of Patau syndrome?
The symptoms are always present at birth. Children with Patau syndrome suffer from severe mental retardation, heart defects, physical deformities and other problems that make their bodies incompatible to survive. Physically, they may exhibit:
These three signs make up the triad of Patau syndrome. However, it should be noted that all three signs may not be present in a child suffering from Patau syndrome.
What causes this disorder?
Patau syndrome is caused by an extra copy of chromosome 13. A normal human has 23 pairs of chromosomes, i.e. only two copies of chromosome 13. A child with Patau syndrome, however, has three copies of chromosome 13 (trisomy 13).
The most common variant of trisomy 13 is free trisomy 13. Like the name suggests, the extra chromosome is not attached to another, and is present in all cells of the child. This is the most severe variant of Patau syndrome, but has a very low risk of recurrence.
The less severe variants are partial trisomy 13 and Robertsonian translocation. In partial trisomy 13, not all cells of the child have three copies of chromosome 13 while in Robertsonian translocation, only a part of the extra chromosome 13 is present as an attachment to another chromosome. Although both these variants are less severe, they have more risk of recurrence. Hence, if your child has been diagnosed with one of these two variants, there’s a high chance that your next child may also suffer from Patau syndrome.
How is it diagnosed?
Patau syndrome is diagnosed through:
What are the treatments for this disease?
There is no treatment available for Patau syndrome. Many children die before, or within a few days of birth. If your child has been diagnosed with Patau syndrome before delivery, you may choose to continue or terminate the pregnancy. Survivors suffer from severe mental retardation and health problems all their lives.
If your child had a free trisomy 13, it is rare that your next child would also suffer from Patau syndrome. However, if your child had one of the other two variants, i.e. partial trisomy 13 or Robertsonian translocation, the risk of your next child suffering from the same is high.
In the latter case, your doctor will recommend genetic testing and counseling for you and your partner. This will help you assess the risk, and prevent recurrence of Patau syndrome in your next pregnancy.
There are support groups for parents whose children had suffered from Patau syndrome. These may be helpful in reducing your anxiety and depression. Genetic counseling will help you get more information, and make an informed decision about your current or future pregnancies.