What Is Patau Syndrome and How Is It Treated?

Written by Medicover Team and Medically Reviewed by Dr K Sindhura , Pediatricians

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1. Causes 2. Find a Doctor 3. Diagnosis 4. Treatment 5. FAQs

Patau syndrome, also known as Trisomy 13, is a rare and severe genetic disorder caused by the presence of an extra copy of chromosome 13. This chromosomal abnormality can lead to significant developmental, neurological, and physical abnormalities. Patau syndrome occurs in approximately 1 in 10,000 to 16,000 live births and is often associated with high infant mortality.

Infants with Patau syndrome may present with multiple congenital anomalies affecting the brain, heart, face, and other organs. Due to the complexity of the condition, early diagnosis, supportive care, and genetic counseling are essential for families and healthcare providers.

What are the Types of Patau Syndrome?

Patau syndrome can occur in different forms depending on how the extra chromosome 13 is present in the body's cells. These forms can influence the severity and range of symptoms, although all forms require careful medical evaluation and supportive care.

Full Trisomy 13: An extra chromosome 13 is present in all or nearly all cells, and this form is generally associated with severe features.
Mosaic Trisomy 13: Only some cells contain the extra chromosome 13, which can result in milder or more variable features.
Partial Trisomy 13: Only part of chromosome 13 is duplicated, causing a variable range of clinical manifestations.

Genetic testing is used to determine the specific form of Patau syndrome and can help healthcare providers and families understand the condition and plan appropriate care.

What are the Symptoms of Patau Syndrome?

Patau syndrome is associated with congenital abnormalities affecting multiple organ systems. Symptoms are usually present at birth and can vary in severity depending on the type of trisomy and the organs involved.

Common Physical Manifestations

Facial abnormalities: Cleft lip and palate, small or underdeveloped eyes (microphthalmia), and low-set ears
Neurological impairments: Microcephaly, brain malformations, and severe intellectual disability
Cardiac defects: High incidence of congenital heart defects
Limb abnormalities: Extra fingers or toes (polydactyly) and abnormal limb development

Additional Symptoms

In addition to these common features, infants with Patau syndrome may experience complications involving other organs and body systems.

Kidney abnormalities: Structural malformations affecting kidney function
Gastrointestinal defects: Omphalocele or other digestive system abnormalities
Breathing difficulties: Due to underdeveloped lungs or neurological impairment
Feeding difficulties: Challenges with sucking and swallowing

The severity and combination of symptoms can vary, but many infants require specialized medical care from multiple healthcare professionals.

What are the Causes of Patau Syndrome?

Patau syndrome is caused by an extra copy of chromosome 13. This chromosomal abnormality most commonly develops because of nondisjunction, an error that occurs during cell division and results in an abnormal number of chromosomes.

Most cases occur sporadically and are not inherited. However, some cases can be associated with chromosomal rearrangements, such as translocations, which may have implications for future pregnancies.

Advanced maternal age is associated with an increased risk of chromosomal abnormalities, although Patau syndrome can occur in pregnancies at any age.

When to See a Doctor?

Consult a paediatrician and seek medical attention if abnormalities are detected during pregnancy or after birth, as early diagnosis and supportive care are important for managing Patau syndrome.

Abnormal findings on prenatal ultrasound or screening tests
Physical abnormalities at birth, such as a cleft lip, extra fingers, or a small head size
Feeding difficulties, breathing issues, or poor growth in newborns

Get medical help immediately if:

Severe breathing difficulties or cyanosis (bluish skin)
Signs of heart defects, such as rapid breathing or poor circulation
Seizures or sudden changes in neurological status

These could indicate serious complications related to Patau syndrome and require urgent medical care.

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How Is Patau Syndrome Diagnosed?

Diagnosis of Patau syndrome involves prenatal screening and confirmatory genetic testing. Early diagnosis can help healthcare providers assess the fetus or newborn, identify associated abnormalities, and plan appropriate medical care.

Prenatal Screening

Ultrasound: Detects structural abnormalities such as heart defects, brain malformations, and facial anomalies during pregnancy
Non-Invasive Prenatal Testing (NIPT): A blood test that analyzes fetal DNA in maternal circulation to screen for chromosomal abnormalities, including Trisomy 13
Amniocentesis: Involves sampling amniotic fluid to analyze fetal chromosomes for a definitive diagnosis
Chorionic Villus Sampling (CVS): An early diagnostic test that examines placental tissue for chromosomal abnormalities

Postnatal Assessment

After birth, the diagnosis can be confirmed through clinical evaluation and genetic testing. Additional investigations may be performed to determine which organs are affected and guide supportive care.

Physical examination: Identification of characteristic congenital anomalies
Karyotyping: A laboratory test to confirm the presence of an extra chromosome 13
Additional imaging: Echocardiography or brain imaging to assess associated complications

What are the Treatment Options for Patau Syndrome?

There is no cure that removes the underlying chromosomal abnormality in Patau syndrome. Treatment is individualized and focuses on managing symptoms, addressing complications, supporting feeding and breathing, and improving comfort and quality of life.

Medical Interventions

Surgical procedures: Correction or management of selected congenital abnormalities, such as certain heart defects, cleft lip and palate, or abdominal wall defects, when appropriate
Respiratory support: Assistance with breathing in infants with respiratory distress
Nutritional support: Feeding assistance through specialized techniques or feeding tubes when necessary
Therapies: Physical, occupational, and speech therapy may support development and functional abilities when appropriate

Palliative and Supportive Care

Palliative and supportive care can play an important role in Patau syndrome, focusing on comfort, symptom relief, and emotional support for the child and family. Care decisions are individualized according to the child's medical needs, prognosis, and family preferences.

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What are the Risk Factors of Patau Syndrome?

Patau syndrome usually occurs randomly because of an error in chromosome division. Certain factors can increase the likelihood of chromosomal abnormalities and may be considered during prenatal counseling and screening.

Advanced maternal age: The risk of chromosomal nondisjunction increases with maternal age.
Previous chromosomal abnormalities: A history of a pregnancy affected by a chromosomal disorder may warrant genetic counseling.
Parental chromosomal rearrangements: Certain balanced translocations in a parent can increase the risk of an affected pregnancy.
Family history: Rare inherited chromosomal rearrangements can increase the risk in some families.

Most cases are not inherited, but genetic counseling can help families understand recurrence risk when a chromosomal rearrangement is identified.

Frequently Asked Questions

1. What are the symptoms of Patau syndrome?

Symptoms may include severe developmental delay, intellectual disability, heart defects, cleft lip or palate, brain abnormalities, extra fingers or toes, eye problems, and poor growth.

2. What causes Patau syndrome?

Patau syndrome is caused by an extra copy of chromosome 13 (trisomy 13). It usually occurs randomly during the formation of reproductive cells.

3. How is Patau syndrome diagnosed?

Diagnosis may involve prenatal screening, ultrasound, chorionic villus sampling (CVS), or amniocentesis. After birth, genetic testing can confirm the diagnosis.

4. What treatments are available for Patau syndrome?

There is no cure. Treatment focuses on supportive care and managing individual problems, which may include surgery for certain heart defects, feeding support, and treatment for seizures or breathing difficulties.

5. How does Patau syndrome differ from Down syndrome?

Patau syndrome is caused by an extra chromosome 13, while Down syndrome is caused by an extra chromosome 21. Patau syndrome generally causes more severe abnormalities and has a higher risk of early death.