Journal of Down Syndrome & Chromosome Abnormalities
Open Access

The Diagnostic Technologies of Patau Syndrome

Elizabeth Head^{* *}Correspondence: Elizabeth Head, Department of Genetics, University of Latvia, Riga, Latvia, Email:

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Description

Patau Syndrome, also known as Trisomy 13, is a rare genetic disorder characterized by the presence of an extra chromosome 13 in some or all of the body's cells. Named after the physician Klaus Patau who first described it in 1960, this syndrome is associated with multiple congenital abnormalities and severe developmental issues. While advancements in prenatal screening and diagnostic technologies have improved detection rates, Patau Syndrome remains a significant challenge for affected individuals and their families.

Causes

Patau Syndrome is primarily caused by the presence of an extra copy of chromosome 13. Normally, each cell in the human body contains 23 pairs of chromosomes, including one pair of sex chromosomes. However, individuals with Patau Syndrome have three copies of chromosome 13 instead of the usual two. This extra genetic material disrupts normal development and leads to the characteristic features of the syndrome.

The extra chromosome 13 usually occurs due to errors in cell division during the formation of reproductive cells (sperm and egg) or during early fetal development. Most cases of Patau Syndrome result from random genetic mutations rather than being inherited from parents. However, individuals with certain chromosomal abnormalities or a family history of the syndrome may have an increased risk of having a child with Patau Syndrome.

Symptoms

Patau Syndrome is associated with a wide range of physical and developmental abnormalities, which can vary in severity among affected individuals. Some common symptoms and characteristics of Patau Syndrome include:

Cleft lip and palate: A fissure or gap in the upper lip and/ or roof of the mouth.

Microcephaly: Abnormally small head size and brain development.

Polydactyly: Extra fingers or toes.

Holoprosencephaly: Failure of the forebrain to divide properly into distinct hemispheres.

Heart defects: Structural abnormalities of the heart, such as atrial septal defects or ventricular septal defects.

Eye abnormalities: Including small eyes (microphthalmia), cataracts or other vision problems.

Renal abnormalities: Kidney malformations or structural defects.

Neurological abnormalities: Seizures, intellectual disability and developmental delays.

Growth deficiency: Slow growth and failure to thrive.

Feeding difficulties: Difficulty with sucking, swallowing and feeding.

It's important to note that not all individuals with Patau Syndrome will exhibit all of these symptoms and the severity of symptoms can vary widely. Additionally, some affected individuals may also experience other complications not listed here.

Diagnosis

Patau Syndrome can be diagnosed prenatally through various screening and diagnostic tests, including ultrasound, amniocentesis, Chorionic Villus Sampling (CVS) and Non Invasive Parenatal Testing (NIPT). During pregnancy, certain ultrasound findings, such as structural abnormalities or growth delays, may prompt further testing to assess for chromosomal abnormalities, including trisomy 13.

After birth, a diagnosis of Patau Syndrome may be suspected based on physical examination findings and confirmed through chromosomal analysis, typically via a blood sample. Genetic testing can determine whether an individual has an extra copy of chromosome 13 or other chromosomal abnormalities associated with the syndrome.

Management and treatment

There is currently no cure for Patau Syndrome and management focuses on supportive care and addressing individual symptoms and complications. Treatment may involve a multidisciplinary approach, including pediatricians, geneticists, cardiologists, neurologists and other specialists.

Early intervention services, such as physical therapy, occupational therapy and speech therapy, can help support developmental and improve quality of life for affected individuals. Additionally, surgical interventions may be necessary to address specific congenital abnormalities, such as heart defects or cleft lip and palate.

The prognosis for individuals with Patau Syndrome varies depending on the severity of symptoms and associated complications. Unfortunately, many affected individuals have significant medical issues and developmental challenges that can impact their lifespan and overall quality of life. The majority of infants born with Patau Syndrome do not survive beyond the first year of life, with the median survival age being around 7 to 10 days. However, with advances in medical care and supportive interventions, some individuals may live longer, albeit with significant disabilities.

Patau Syndrome or Trisomy 13, is a rare genetic disorder associated with multiple congenital abnormalities and developmental challenges. While prenatal screening and diagnostic technologies have improved detection rates, there is currently no cure for this syndrome and management primarily focuses on supportive care and addressing individual symptoms. Despite significant medical advancements, Patau Syndrome remains a significant challenge for affected individuals and their families, highlighting the ongoing need for research, support and resources for those living with rare genetic disorders.