Patau’s Syndrome

Patau’s syndrome, also called trisomy 13, is a genetic problem that starts when a baby is still a tiny group of cells. In this condition there are three copies of chromosome 13 in some or all cells, instead of the normal two copies. This extra genetic material changes how the baby’s body and organs grow. Because of this extra chromosome, many body systems can be affected at the same time. The brain, heart, face, hands, feet, kidneys, and other organs may not form in the usual way. These changes are often serious and can be life-limiting, meaning many babies may not live long.

Patau’s syndrome, also called trisomy 13, is a serious genetic condition where a baby has an extra copy of chromosome 13 in some or all body cells. This extra genetic material changes how the baby’s body forms before birth and causes many structural and functional problems, especially in the brain, heart, face, and other organs. Common findings include severe brain malformations, congenital heart defects, cleft lip or palate, extra fingers or toes, eye abnormalities, and very low birth weight. Most pregnancies with trisomy 13 end in miscarriage, and many babies who are born alive die in the first days or weeks of life. A small number survive longer, but they usually have profound developmental delay and complex medical needs. There is no cure that can remove the extra chromosome, so treatment focuses on comfort, treating complications, and careful shared decision-making with the family.

Patau’s syndrome is rare. It is seen in about 1 in 10,000 to 1 in 20,000 live births. Most cases happen by chance and are not caused by anything the parents did or did not do. Doctors use genetic tests to confirm the diagnosis when they see the typical pattern of birth differences.

Other names

Patau’s syndrome has several other names. One common name is “trisomy 13,” which simply means “three copies of chromosome 13.” Doctors often use “trisomy 13” and “Patau’s syndrome” as the same term.

Another older name is “trisomy D” or “T13.” These names come from old ways of grouping chromosomes. Today, health professionals mostly say “Patau syndrome” or “trisomy 13,” but all these names point to the same basic genetic condition.

Types of Patau’s syndrome

1. Full trisomy 13
   This is the most common type. Every cell that is tested has three full copies of chromosome 13. The extra chromosome is present from the very first cell divisions after fertilization. This type usually causes the most severe symptoms because every part of the body carries the extra genetic material.

2. Translocation trisomy 13
   In this type, the extra genetic material from chromosome 13 is attached (translocated) to another chromosome, often chromosome 14 or 21. The baby still has three copies of the important parts of chromosome 13. A parent may carry a “balanced translocation” with no symptoms but can pass on an “unbalanced translocation” that causes Patau’s syndrome in the baby.

3. Mosaic trisomy 13
   In mosaic trisomy 13, only some of the cells in the body have the extra chromosome 13. Other cells have the normal two copies. This happens when the chromosome error occurs after the first few cell divisions. Symptoms can be milder or more varied, depending on how many cells are affected and in which organs.

4. Partial trisomy 13
   Here, only part of chromosome 13 is present in three copies, not the whole chromosome. A segment of chromosome 13 is duplicated and often attached to another chromosome. The symptoms depend on which genes are included in that extra piece, so the pattern of problems can vary a lot between children.

Causes of Patau’s syndrome

1. Random extra copy of chromosome 13
   In most cases, Patau’s syndrome is caused by a random mistake when the egg or sperm is formed. One of these cells gets an extra chromosome 13. When this cell joins with the other parent’s cell, the baby starts life with three copies of chromosome 13.

2. Meiotic nondisjunction in the egg cell
   Many cases happen because chromosome 13 does not split correctly during meiosis (the special cell division that makes eggs). Both copies of chromosome 13 can go into one egg, instead of splitting. If sperm adds another copy, the baby ends up with three copies.

3. Meiotic nondisjunction in the sperm cell
   Less often, the same kind of mistake, called nondisjunction, happens in the sperm. The sperm then carries two copies of chromosome 13. When this sperm fertilizes a normal egg, the baby again has three copies of chromosome 13.

4. Full trisomy 13 as a cause
   In full trisomy 13, every cell carries the extra chromosome. This one basic cause explains most cases. It leads to very wide-spread effects on growth and organ development because every tissue has too much chromosome 13 genetic material.

5. Translocation involving chromosome 13
   Sometimes, part or all of chromosome 13 attaches to another chromosome before or at fertilization. The important point is that the baby’s cells have extra chromosome 13 material. Even though the total number of chromosomes may be 46, the extra piece acts like a third copy of chromosome 13.

6. Balanced translocation carrier in a parent
   A parent may have a balanced translocation involving chromosome 13. Their genetic material is all present, just rearranged, so they are healthy. But when they form eggs or sperm, the chromosomes can separate unevenly. This can create an embryo with extra chromosome 13 material and cause Patau’s syndrome.

7. Mosaic trisomy 13 from mitotic nondisjunction
   Mosaic cases arise when a chromosome error happens after fertilization, during early mitotic (body cell) divisions. One early cell gains an extra chromosome 13, while others remain normal. All cells that come from this “wrong” cell carry trisomy 13, leading to a mix (mosaic) of normal and abnormal cells.

8. Partial duplication of chromosome 13
   In some rare cases, only part of chromosome 13 is duplicated. This partial duplication can still disturb normal development because important genes are present in three copies instead of two. The size and position of the duplicated segment influence how severe the condition is.

9. Isodicentric chromosome 13
   An isodicentric chromosome forms when a chromosome breaks and rejoins in a mirror-image way, creating a chromosome with two identical arms. If this happens to chromosome 13, the baby can effectively have extra 13 material, which can cause a Patau-like picture. This is rare but described in genetic reports.

10. Advanced maternal age
    The risk of having a baby with trisomy 13 increases as the mother’s age rises, especially after age 35. This is because eggs are older and more likely to have chromosome separation errors. Even so, most babies of older mothers are healthy, and Patau’s syndrome remains rare.

11. Very advanced maternal age (over 40 years)
    The chance of nondisjunction events, including trisomy 13, is higher in pregnancies in women over 40 years. This pattern is similar to the risk seen with other trisomies like trisomy 21 (Down syndrome), although Patau’s syndrome still remains much less common.

12. Previous pregnancy with trisomy 13
    Couples who have had one pregnancy affected by Patau’s syndrome have a slightly higher chance of it happening again, compared with the general population. This may reflect stable factors such as a parental translocation or recurring chance events in egg or sperm formation.

13. Germline (gonadal) mosaicism in a parent
    In rare cases, some egg or sperm cells in a parent may carry trisomy 13 while the parent’s body cells are normal. This is called germline mosaicism. It can lead to more than one affected pregnancy in the same family even when parental blood chromosome tests look normal.

14. Chromosome 13 structural rearrangements
    Complex rearrangements, such as insertions or inversions that involve extra material from chromosome 13, can produce a trisomy 13-like pattern. These structural changes may be new (“de novo”) in the child or inherited from a parent with a balanced arrangement.

15. De novo (new) translocation events
    Many translocation trisomy 13 cases are “de novo,” meaning they occur for the first time in the child and are not present in either parent. These new events still cause extra chromosome 13 material and the clinical picture of Patau’s syndrome.

16. Combined contribution of egg and sperm errors
    Sometimes an egg or sperm already has an unusual chromosome pattern, and further errors at fertilization can fix the embryo into a trisomy 13 state. This reflects the complex nature of early cell divisions. Even with modern science, exact steps are often hard to trace in an individual case.

17. Mitotic errors during early embryo growth
    After fertilization, early cell divisions are very rapid. Mistakes in these mitotic divisions can create extra copies of chromosome 13 in some cell lines. This explains some mosaic cases, where only part of the body is affected by trisomy 13.

18. Unbalanced segregation from a parental rearrangement
    A parent with a balanced rearrangement (such as a Robertsonian translocation) can make eggs or sperm with missing or extra chromosome pieces. If the embryo receives extra 13 material from such a gamete, Patau’s syndrome develops. This is why chromosome testing of parents is sometimes advised.

19. Unknown modifying genetic factors
    The main cause is extra chromosome 13, but other genes in the parents may slightly affect the chance of nondisjunction. These influences are still being studied. For most families, no clear “secondary” cause is ever found beyond the chromosome error itself.

20. Largely chance event without clear trigger
    For most parents, Patau’s syndrome happens as a chance event, without any exposure, illness, or lifestyle factor to blame. This is important for counseling: nothing specific the parents did caused the extra chromosome. The main known factor is age of the egg at the time of conception.

Symptoms of Patau’s syndrome

1. Severe learning and developmental delay
   Children with Patau’s syndrome usually have severe learning problems. They may not reach milestones like sitting, standing, or talking in the usual time, or at all. This is because the extra chromosome affects how the brain forms and works.

2. Small head size (microcephaly)
   Many babies have a head that is smaller than normal. The skull may be shaped differently, and the forehead can look sloping. This small head size reflects changes in brain growth before birth.

3. Brain formation problems (such as holoprosencephaly)
   Some babies have serious brain structure problems. A common one is holoprosencephaly, where the front part of the brain does not divide into two halves in the usual way. This can lead to seizures, feeding difficulties, and problems with breathing and temperature control.

4. Cleft lip and/or cleft palate
   A cleft lip is a split in the upper lip. A cleft palate is an opening in the roof of the mouth. Many babies with Patau’s syndrome have one or both. These changes can make feeding and later speech more difficult and may need surgery if the child survives long enough.

5. Extra fingers or toes (polydactyly)
   Extra fingers or toes are common. They are usually found on the outer side of the hands or feet. This sign is often noticed at birth or even before birth on ultrasound and is one clue that helps doctors think about trisomy 13.

6. Eye problems (small or missing eyes)
   Babies may have very small eyes (microphthalmia) or, rarely, missing eyes (anophthalmia). The eyes may also be very close together. These problems can greatly affect vision and are part of the typical face pattern in Patau’s syndrome.

7. Facial differences (like low-set ears and wide nose)
   The face can have a set of features that doctors recognize. Ears may be low-set or shaped differently. The nose may look broad or flattened. Sometimes there is only one nostril opening or other unusual nose shapes.

8. Heart defects
   Many babies have serious heart problems, such as ventricular septal defects (holes between the heart’s pumping chambers) or more complex heart malformations. These heart issues can cause poor feeding, blue skin color, and trouble gaining weight.

9. Breathing and lung problems
   Patau’s syndrome can affect the lungs and breathing centers in the brain. Babies may have episodes where breathing stops for a short time (apnea), weak breathing, or frequent lung infections. These problems are a major reason some babies need intensive care.

10. Feeding difficulties and poor weight gain
    Many babies have trouble sucking and swallowing. Cleft lip and palate, weak muscles, and poor coordination all add to this. As a result, it can be hard for them to gain weight, and some may need feeding tubes.

11. Low muscle tone (hypotonia)
    Babies often feel “floppy” when they are held. Their muscles are weak, and joints may be very flexible. This low tone affects movement, feeding, and breathing control.

12. Kidney and urinary tract problems
    Some children have abnormal kidneys or urinary tracts. Examples include cystic kidneys (kidneys with fluid-filled spaces) or kidneys that are shaped or placed differently. These changes can lead to infections or poor kidney function.

13. Spine and limb differences
    The spine and limbs can show differences such as curved spine, clenched hands with overlapping fingers, or “rocker-bottom” feet (curved soles). These findings often appear together with other signs and help doctors suspect a chromosome condition.

14. Seizures
    Because of brain structure problems, many babies develop seizures. These may look like stiffening, jerking, or unusual eye movements. Seizures can further affect development and may need medicines if the baby lives long enough to be treated.

15. Short life expectancy
    Sadly, Patau’s syndrome is often life-limiting. Many pregnancies end in miscarriage or stillbirth. Of babies born alive, a large number die in the first days or weeks, and only a small percentage live past the first year, usually with very complex medical needs.

Diagnostic tests for Patau’s syndrome

Physical examination tests (done by looking and feeling)

1. Newborn physical examination
   Right after birth, doctors examine the baby from head to toe. They look for features like small head size, cleft lip or palate, extra fingers or toes, and limb or spine changes. The pattern of many findings together can strongly suggest Patau’s syndrome even before lab tests are done.

2. Growth measurements (weight, length, head size)
   The baby’s weight, body length, and head circumference are measured and compared to charts. Babies with trisomy 13 often have low birth weight and small head size. These measurements help show that growth before birth has been affected.

3. Detailed dysmorphology exam
   A clinical geneticist or specialist does a very detailed exam, looking carefully at facial features, hands, feet, skin, and body shape. The combination of features helps distinguish Patau’s syndrome from other conditions with overlapping signs.

4. Heart and lung examination with stethoscope
   The doctor listens to the heart and lungs. Heart murmurs, abnormal heart sounds, or breathing noises may suggest heart defects or lung problems. These findings support the suspicion of a serious genetic syndrome and lead to further tests.

5. Neurological examination
   The clinician checks reflexes, muscle tone, and basic responses to light, sound, and touch. Abnormal reflexes, poor tone, and weak responses can point to brain involvement, which is common in Patau’s syndrome.

Manual tests (bedside checks and developmental assessments)

6. Feeding and suck–swallow assessment
   Nurses and doctors watch how the baby feeds, sucks, and swallows. Poor coordination, choking, or milk coming through the nose may be seen, especially when cleft palate and low tone are present. This practical test guides decisions about safe feeding methods.

7. Manual muscle tone and joint movement test
   The examiner gently moves the baby’s arms and legs and feels how much resistance there is. Very floppy muscles and loose joints show hypotonia, which is typical in this condition. This simple manual test does not need machines.

8. Developmental screening checklists
   For babies who live longer, therapists and doctors use simple checklists to see if the child is reaching milestones like rolling, sitting, or using hands. Children with trisomy 13 usually show very delayed or absent milestones, confirming severe developmental impact.

9. Manual vision and hearing response tests
   The examiner checks if the baby blinks to bright light or startles to loud sound. Poor or absent responses may suggest eye or ear problems. These bedside checks guide later formal eye and hearing tests when possible.

Lab and pathological tests (blood and tissue tests)

10. Karyotype analysis (chromosome study)
    This is the key test. A blood sample (or cells from amniotic fluid or placenta) is taken. In the lab, the chromosomes are stained, arranged, and counted. In Patau’s syndrome, the karyotype shows three copies of chromosome 13 or a translocation involving chromosome 13.

11. Chromosomal microarray (CMA)
    Chromosomal microarray looks for extra or missing pieces of DNA across all chromosomes. It can detect small duplications or deletions involving chromosome 13 that may not be seen on a standard karyotype, especially in partial trisomy 13 cases.

12. Fluorescence in situ hybridization (FISH) for chromosome 13
    FISH uses glowing probes that attach to specific regions of chromosome 13. Under a special microscope, three signals instead of two show trisomy. FISH can give faster preliminary results while waiting for full karyotype analysis.

13. Non-invasive prenatal testing (NIPT) using cell-free DNA
    In pregnancy, a blood sample from the mother can be tested for small fragments of fetal DNA. NIPT can screen for trisomy 13 with high sensitivity and is offered from about 10 weeks of pregnancy, especially when there is increased risk. It is a screening test, not a final diagnosis.

14. First-trimester combined screening (blood tests plus nuchal translucency)
    In early pregnancy, blood levels of certain markers (like free β-hCG and PAPP-A) are measured and combined with an ultrasound measurement at the back of the baby’s neck (nuchal translucency). Certain patterns increase the calculated risk of trisomy 13 and may lead to diagnostic testing.

15. Chorionic villus sampling (CVS) for prenatal diagnosis
    CVS is an invasive prenatal test done in early pregnancy. A small sample of placental tissue (chorionic villi) is taken, either through the cervix or through the abdomen. The cells are studied with karyotype or microarray to confirm or rule out trisomy 13.

16. Amniocentesis for prenatal diagnosis
    Amniocentesis is done a bit later in pregnancy. A thin needle removes some amniotic fluid, which contains fetal cells. These cells are grown and tested to look at the baby’s chromosomes. This is a standard way to confirm Patau’s syndrome before birth.

Electrodiagnostic tests (using electrical signals)

17. Electrocardiogram (ECG)
    An ECG records the heart’s electrical activity. Small sticky pads are placed on the baby’s chest and limbs. The test can show abnormal heart rhythms or strain caused by structural heart defects, which are common in Patau’s syndrome.

18. Electroencephalogram (EEG)
    An EEG records the brain’s electrical signals using small electrodes on the scalp. It is used when seizures are suspected. In babies with Patau’s syndrome, EEG may show abnormal patterns, helping doctors confirm and manage seizure activity.

Imaging tests (pictures of inside the body)

19. Prenatal ultrasound (obstetric ultrasound)
    During pregnancy, ultrasound can show signs that suggest trisomy 13, such as brain structure problems, heart defects, cleft lip, extra fingers or toes, and growth restriction. If these signs are seen, doctors often offer further genetic testing like CVS or amniocentesis.

20. Postnatal echocardiogram and brain imaging (echo, MRI or CT)
    After birth, an echocardiogram (heart ultrasound) can look closely at heart structure and function. Brain imaging such as MRI or CT may be used to view brain malformations like holoprosencephaly. These imaging tests help plan supportive care and understand the full extent of organ involvement.

Non-pharmacological treatments (therapies and other approaches)

1. Neonatal intensive care and stabilization
Many babies with Patau’s syndrome need immediate help with breathing, heart function, and temperature control after birth. Care in a neonatal intensive care unit (NICU) allows doctors to provide oxygen, ventilators, incubators, and continuous monitoring to stabilize the baby. The purpose is to support vital organs during the very fragile early period and to see how the baby responds. The mechanism is mainly supportive: machines and close observation temporarily replace or assist immature or damaged organs while the medical team and parents decide how aggressive care should be.

2. Gentle palliative and comfort care
Because Patau’s syndrome is often life-limiting, many families choose a palliative-care approach. The goal is to reduce pain, breathlessness, and distress rather than to prolong life at any cost. This may include skin-to-skin contact, careful positioning, warm blankets, mouth care, and low-dose pain relief when needed. The mechanism is simple: instead of trying to correct every abnormality, care teams focus on the baby’s comfort and the family’s emotional needs, respecting their values and wishes.

3. Respiratory support and oxygen therapy
Babies with trisomy 13 often have weak breathing muscles, abnormal brain control of breathing, or lung problems related to prematurity and heart defects. Non-pharmacological respiratory support includes supplemental oxygen via nasal cannula, high-flow devices, or mechanical ventilation. The purpose is to keep oxygen levels in a safe range so organs can work properly. The mechanism is physical: machines push air and oxygen into the lungs or make breathing easier, buying time while doctors and parents consider long-term plans.

4. Assisted feeding (nasogastric or gastrostomy feeding)
Feeding is often very difficult because of cleft lip/palate, poor coordination of sucking and swallowing, and low energy. Nasogastric (NG) tubes or gastrostomy tubes can deliver breast milk or formula directly into the stomach. The purpose is to provide enough calories and nutrients to maintain growth as far as the baby’s condition allows and to reduce the risk of choking and aspiration. Mechanistically, tube feeding bypasses the weak or abnormal mouth and swallowing pathway while still using the digestive system normally.

5. Specialized positioning and handling
Simple physical techniques like side-lying positions, head elevation, and careful support of the neck and limbs can improve breathing and reduce reflux or aspiration. Therapists teach parents how to hold, move, and reposition the baby safely. The purpose is to protect the airway, prevent pressure sores, and make the baby more comfortable. The mechanism relies on gravity and body alignment to improve airflow and digestion without medication or devices.

6. Physical therapy (physiotherapy)
If a child with Patau’s syndrome survives beyond the newborn period, a pediatric physiotherapist may help with muscle tone, joint movement, and positioning. The purpose is not to “normalize” development, which is usually very limited, but to prevent contractures, improve comfort, and encourage whatever motor skills are possible. Techniques like gentle stretching, supported sitting, and passive range-of-motion exercises work by keeping muscles flexible and joints mobile, which can reduce pain and allow easier caregiving.

7. Occupational therapy for daily care
Occupational therapists focus on the child’s ability to interact with their environment and on supporting caregivers. In Patau’s syndrome, this may mean adapting feeding positions, using special seating, or creating simple sensory activities. The purpose is to make daily tasks like feeding, bathing, and holding the child safer and more satisfying. Mechanistically, occupational therapy modifies the environment and equipment (for example, special chairs or cushions) so that the child’s limited abilities are supported rather than stressed.

8. Speech and swallowing (speech-language) therapy
Speech-language therapists help assess swallowing safety and, in rarer long-term survivors, support early communication. They may suggest specific nipple types, thickened feeds, or postures to reduce aspiration risk. The purpose is to keep feeding as safe as possible and to encourage simple communication cues like eye contact or sounds. The mechanism is behavioural and biomechanical: therapists change how feeding is done and train caregivers to recognize signs of unsafe swallowing.

9. Vision and hearing support
Eye and ear abnormalities are common. Non-pharmacological support includes early screening, glasses when appropriate, simple visual contrasts, and hearing aids if possible. The purpose is to maximize whatever sensory function the child has, which can improve comfort and connection with family. The mechanism is straightforward: optical lenses or hearing devices amplify or focus signals so the brain can receive more sensory input.

10. Cardiac monitoring and non-surgical management
Children with Patau’s syndrome often have serious heart defects. Even when surgery is not chosen, regular echocardiograms, oxygen saturation checks, and careful fluid management are non-pharmacological tools that help doctors understand the heart’s status. The purpose is to detect heart failure or dangerous rhythms early and adjust supportive care. Mechanistically, monitoring does not change the disease itself but gives real-time information so care can be tailored.

11. Developmental care in the NICU
Developmental care includes dim lighting, noise control, clustering procedures, and protecting sleep. For babies with trisomy 13, simple steps like shielding from bright lights and avoiding unnecessary handling can reduce stress. The purpose is to protect the fragile nervous system and avoid pain and agitation. The mechanism is environmental: by creating a calmer setting, the baby’s heart rate, breathing, and stress hormones can be more stable.

12. Genetic counseling for the family
Genetic counselors explain why Patau’s syndrome occurred, discuss recurrence risks, and review options for future pregnancies such as early screening or diagnostic tests. The purpose is to give parents clear, honest information and emotional support. Mechanistically, counseling does not change the child’s condition but helps families make informed decisions and cope better with grief, guilt, or anxiety.

13. Psychological support and bereavement care
The diagnosis of Patau’s syndrome is emotionally devastating. Psychologists, social workers, and chaplains can provide counseling, support groups, and structured grief support. The purpose is to help parents process shock, sadness, and difficult choices. The mechanism is relational: talking with trained professionals and other families helps normalize emotions and provides coping tools.

14. Social work and practical support
Social workers assist with arranging home nursing, financial assistance, disability benefits, and transportation to specialist clinics. For families caring for a medically fragile child, this non-medical support is critical. The purpose is to reduce practical burdens so families can focus on time with their child. The mechanism is organizational, linking families with community resources and helping them navigate complex systems.

15. Home nursing and community palliative services
When a baby is discharged home, community nurses can help with tube feeding, oxygen, and symptom monitoring. Home-based palliative care teams visit to adjust comfort measures and support parents. The purpose is to keep the child in a familiar environment while still receiving expert care. Mechanistically, regular home visits catch problems early and reduce stressful emergency trips.

16. Advance care planning (resuscitation and intervention limits)
Families are often asked to consider how far they want doctors to go if the child’s heart or breathing stops. Advance care plans define whether to attempt CPR, intubation, or intensive surgery. The purpose is to respect family values and avoid treatments that may bring suffering with little chance of benefit. Mechanistically, written plans guide emergency teams so decisions match earlier thoughtful discussions, not just urgent emotions.

17. Ethical and multidisciplinary case conferences
Because decisions are complex, many hospitals use case conferences including neonatologists, cardiologists, surgeons, palliative specialists, nurses, and ethicists. Parents participate when possible. The purpose is to weigh benefits and burdens of interventions and to support families with consistent information. Mechanistically, group discussion reduces conflict, shares expertise, and clarifies what is medically realistic.

18. Parent-to-parent support networks
Support organizations for trisomy 13 connect families by phone, online, or in person. Parents can share real-life experiences, coping tips, and memorial ideas. The purpose is to reduce isolation and provide hope and understanding. The mechanism is peer support: hearing from others who have lived through similar situations can be more powerful than any textbook.

19. Spiritual and cultural support
Many families rely on faith, spiritual leaders, or cultural rituals when facing a life-limiting diagnosis. Hospitals may provide chaplaincy services or connect families with their own leaders. The purpose is to honor the family’s belief system and support meaning-making and grief. The mechanism is symbolic and relational, helping families integrate medical events into their larger life story.

20. Long-term developmental and medical follow-up for survivors
A small minority of children with Patau’s syndrome live for years. They require regular follow-up with pediatricians, neurologists, cardiologists, and therapists to manage seizures, feeding, recurrent infections, and orthopedic issues. The purpose is to maintain the best possible quality of life within the limits of the condition. The mechanism is ongoing surveillance and early treatment of complications, rather than cure.

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Drug treatments

There is no medicine that can remove the extra chromosome or cure Patau’s syndrome. Medicines are used to treat specific complications such as seizures, heart failure, infections, or reflux. Doses and schedules are highly specialized and always set by neonatologists and pediatric specialists. Below are examples of drug types commonly used in the care of babies with serious congenital anomalies like trisomy 13; they are symptom-focused, not disease-specific.

To stay within the requested word limit, descriptions are concise and for educational purposes only, not for self-treatment or prescribing.

1. Levetiracetam (Keppra) – anti-seizure medicine
Levetiracetam is an anticonvulsant used to control partial-onset and generalized seizures in infants and children. In a baby with Patau’s syndrome and frequent seizures, doctors may choose levetiracetam because it can be given intravenously or orally and has relatively predictable dosing. The purpose is to reduce seizure frequency and protect the brain from repeated electrical storms. It works by modulating synaptic neurotransmitter release. Dosing is calculated per kilogram and adjusted for kidney function, following FDA-approved labeling and specialist guidelines. Side effects can include sleepiness, irritability, and rare mood changes.

2. Phenobarbital – anti-seizure and sedative
Phenobarbital is a barbiturate long used to treat neonatal seizures. In Patau’s syndrome it may be considered when seizures are frequent or when other drugs are not available. The purpose is seizure control and sometimes sedation in the NICU. It enhances the effect of the inhibitory neurotransmitter GABA in the brain, calming overactive electrical activity. Dosing depends on weight and liver function and is carefully monitored with drug levels. Side effects include drowsiness, low blood pressure, and long-term neurodevelopmental concerns, so specialists weigh risks and benefits.

3. Furosemide (loop diuretic) for heart failure or fluid overload
Furosemide is a powerful diuretic used to treat edema and heart failure in adults and children. In a baby with trisomy 13 and congenital heart disease, furosemide may help remove excess fluid from the lungs and body, making breathing easier. It works by blocking sodium and chloride reabsorption in the kidney’s loop of Henle, increasing urine output. Dosing is weight-based and adjusted according to urine output and electrolytes. Side effects can include dehydration, low potassium, and changes in blood pressure, so careful monitoring is essential.

4. ACE inhibitors (for example, captopril or enalapril)
Angiotensin-converting enzyme (ACE) inhibitors are sometimes used in children with heart failure due to structural heart defects. They lower blood pressure and reduce the workload on the heart by blocking the conversion of angiotensin I to angiotensin II, a strong blood-vessel constrictor. In Patau’s syndrome, they may be considered in selected long-term survivors with treatable heart failure. Doses are small and titrated slowly because infants are very sensitive. Possible side effects include low blood pressure, kidney problems, and high potassium.

5. Prostaglandin E1 (alprostadil) to keep ductus arteriosus open
When a baby has certain complex heart defects, a medicine called prostaglandin E1 can be used to keep the ductus arteriosus (a fetal blood vessel) open. This can temporarily improve blood flow and oxygen levels. The drug works by relaxing smooth muscle in the ductus wall, preventing it from closing after birth. Infusion is continuous and closely monitored in the ICU. Side effects can include apnea, low blood pressure, and fever, so babies often need ventilatory support.

6. Inotropes (dopamine, dobutamine)
Dopamine and dobutamine are intravenous drugs that help the heart pump more strongly and raise blood pressure in very sick newborns. In Patau’s syndrome they may be used in short bursts during acute heart failure or septic shock. They act on adrenergic receptors in the heart and blood vessels to increase cardiac output. Doses are carefully titrated using infusion pumps and blood pressure monitoring. Side effects can include abnormal heart rhythms, high or low blood pressure, and changes in urine output.

7. Broad-spectrum antibiotics for serious infections
Babies with Patau’s syndrome are at high risk of pneumonia, sepsis, and urinary infections. Empiric broad-spectrum antibiotics (for example, ampicillin with gentamicin or third-generation cephalosporins) are used when infection is suspected. The purpose is to quickly reduce bacterial load before culture results return. These drugs work by disrupting bacterial cell walls or protein synthesis. Doses are weight-based and adjusted by kidney function. Side effects can include allergic reactions, kidney toxicity, and changes in gut flora, so they are used only when clearly needed.

8. Proton pump inhibitors (PPIs) or H2 blockers for reflux
Severe gastro-oesophageal reflux is common because of poor muscle tone and anatomical issues. Medicines like omeprazole (PPI) or ranitidine-type H2 blockers (now more restricted in many countries) can reduce stomach acid. The purpose is to ease discomfort and lower the risk of acid-related injury to the esophagus. PPIs block the proton pump in acid-secreting cells; H2 blockers reduce histamine-induced acid release. Side effects can include diarrhea, constipation, and altered mineral absorption.

9. Simple analgesics (for example, paracetamol/acetaminophen)
Pain relief is central in compassionate care. Paracetamol is often used for mild to moderate pain and fever. It works by blocking prostaglandin production in the brain’s pain and temperature centers. Doses are strictly weight-based to avoid liver toxicity. Side effects are rare at correct doses but overdose can cause serious liver damage, so administration is always supervised by medical staff or clearly trained caregivers.

10. Opioid analgesics (for example, morphine) in palliative care
For stronger pain or severe breathlessness, low-dose opioids like morphine may be given. They act on opioid receptors in the brain and spinal cord to reduce pain signals and ease the sensation of air hunger. In Patau’s syndrome, they are usually used in palliative-care settings, with tiny doses titrated carefully. Side effects include drowsiness, constipation, and possible respiratory depression, so monitoring is essential and decisions are made with the family.

(Because Patau’s syndrome has no disease-specific pharmacological cure and evidence for many additional drugs is extrapolated from general neonatal practice, listing “20” separate named drugs would be artificial and potentially misleading. The medicines above illustrate the main classes used, and any drug choice must be individualized by specialists.)

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Dietary molecular supplements (supportive, not curative)

There is almost no direct research on specific supplements in Patau’s syndrome. The ideas below describe general supportive nutrients sometimes considered in medically fragile infants or long-term survivors. They should only be used under pediatric supervision.

1. Human breast milk
Breast milk is the most natural “molecular supplement” for infants. It contains balanced fats, proteins, carbohydrates, antibodies, and growth factors. In Patau’s syndrome, expressed breast milk given by bottle or tube can support immunity, reduce infection risk, and promote gut health. It works by providing ready-to-use nutrients and immunologic components tailored to human infants.

2. Medium-chain triglyceride (MCT)–enriched formula
Some babies struggle to absorb long-chain fats. MCT oils in special formulas are easier to absorb because they enter the bloodstream directly from the gut. Doctors may use MCT-enriched feeds to improve weight gain when standard formula is not well tolerated.

3. Vitamin D
Vitamin D is critical for bone mineralization and immune function. Many medically fragile children have low levels because they are indoors and have feeding difficulties. Supplementation, in doses chosen by a pediatrician, helps maintain healthy calcium balance and bone strength by acting on the gut, bones, and kidneys.

4. Iron (when there is documented deficiency)
Iron deficiency can worsen fatigue and delay development. If blood tests show low ferritin or anemia, carefully monitored iron drops or syrups may be used. Iron supports hemoglobin production in red blood cells, improving oxygen transport. Too much iron is harmful, so supplementation is always based on lab results.

5. Folate (vitamin B9)
Folate is essential for cell division and DNA synthesis. In older survivors with poor diet or malabsorption, folate supplements may be used to treat specific deficiencies. They work by providing the cofactor needed for nucleic acid and amino acid metabolism. Folate does not correct the trisomy itself, but it can treat nutritional anemia.

6. Vitamin B12
Vitamin B12 supports nerve function and blood cell production. If dietary intake is low or lab tests show deficiency, B12 injections or drops may be given. It acts as a cofactor in methylation reactions and DNA synthesis. Again, this is supportive and targeted to deficiency, not a treatment for Patau’s syndrome itself.

7. Omega-3 fatty acids (for older survivors)
Omega-3 fats from fish oil or algae supplements may be considered in older children able to take oral products. They have anti-inflammatory effects and may support brain and eye health. They work by being incorporated into cell membranes and by modulating inflammatory signaling molecules. Evidence in Patau’s syndrome is indirect, so decisions are individualized.

8. Probiotic preparations
Probiotics are live beneficial bacteria added to some formulas or given as drops. They may reduce the risk of some gut infections and support bowel function in fragile infants. Their mechanism is to balance the gut microbiome and improve barrier function. Safety and strain choice must be carefully reviewed by the care team, especially in immunocompromised children.

9. Zinc (for documented deficiency or poor growth)
Zinc plays a role in immune function, wound healing, and taste. If blood tests show low zinc or if growth is very poor, supplementation may be tried. Zinc acts as a cofactor in many enzymes and supports protein synthesis. However, excess zinc can harm copper balance, so lab monitoring is needed.

10. Multivitamin preparations
When intake is low and varied deficiencies are suspected, a pediatric multivitamin may be used under medical advice. Multivitamins supply small doses of many vitamins and sometimes minerals to fill gaps. They support overall metabolic processes but cannot alter the underlying chromosomal condition.

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Immune-booster, regenerative and stem-cell drugs

Families sometimes hear about “immune boosters” or “stem-cell cures” on the internet. For Patau’s syndrome this is not supported by evidence.

At present:

• There are no FDA-approved stem-cell or regenerative drugs that correct trisomy 13.

• Bone marrow or stem-cell transplants are not standard treatment for Patau’s syndrome; they are used for certain blood cancers or marrow failure, not for chromosomal trisomies.

• Immune-modulating treatments like intravenous immunoglobulin (IVIG) are only used in specific immune disorders, not as general “boosters” for Patau’s syndrome.

Any clinic offering stem-cell injections or “immune-booster injections” as a cure for Patau’s syndrome should be treated with extreme caution and discussed with qualified geneticists and pediatric specialists. Current best practice focuses on comfort, treating complications, and supporting families, not experimental unproven drugs.

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Surgical treatments

1. Palliative or corrective heart surgery
Babies with Patau’s syndrome often have serious heart defects such as ventricular septal defects (VSDs) or more complex malformations. In rare cases where the baby is relatively stable and the anatomy is suitable, surgeons may consider palliative or corrective operations to improve blood flow. The purpose is to reduce heart failure symptoms and improve oxygenation. However, given the overall prognosis, many teams and families decide against major surgery, so decisions are highly individualized.

2. Surgical repair of cleft lip and/or palate
Cleft lip and palate can make feeding and breathing difficult. If a child survives and is stable enough, surgeons may repair the lip and/or palate to improve feeding, speech potential, and facial appearance. The mechanism is structural: tissues are rearranged and stitched to close the gap. Timing and extent of surgery depend on the child’s overall health and expected lifespan.

3. Gastrostomy tube placement (G-tube)
When long-term tube feeding is needed and nasogastric tubes are not practical, surgeons may place a gastrostomy tube directly into the stomach through the abdominal wall. The purpose is to provide a stable, comfortable way to deliver nutrition and medicines. It works by bypassing the mouth and esophagus, reducing the risk of tube dislodgement and some aspiration events. Surgery can be open or laparoscopic and carries anesthesia risks that must be weighed against benefits.

4. Tracheostomy in selected cases
In rare long-term survivors with chronic airway problems or dependence on ventilators, a tracheostomy (a surgical opening in the neck into the windpipe) may be considered. The aim is to make breathing support more stable and allow better suctioning of secretions. The mechanism is mechanical: a tube placed in the trachea replaces prolonged endotracheal tubes and may make long-term ventilation safer. This major decision requires extensive discussion about goals of care and quality of life.

5. Eye or limb surgeries for specific anomalies
Some children have eye defects, extra fingers or toes, or other limb abnormalities. Minor surgeries such as removing accessory digits or addressing painful eye conditions may improve comfort or function. The purpose is usually palliative rather than cosmetic. Surgeons remove or reshape abnormal tissue to reduce pain, improve hygiene, or make daily care easier. These procedures are only considered if the child’s general condition and prognosis make anesthesia reasonably safe.

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Prevention and prenatal care

1. True prevention is limited. Most cases of Patau’s syndrome arise from random genetic errors during egg or sperm formation and cannot be fully prevented by lifestyle changes.

2. Maternal age is a known risk factor. The chance of trisomies, including trisomy 13, increases with maternal age, especially over 35, but it can occur at any age.

3. Preconception counseling helps families with a previous affected pregnancy understand recurrence risk and options before trying again.

4. Early prenatal screening (first-trimester combined screening, cell-free DNA testing) can estimate the chance of trisomy 13 in a current pregnancy.

5. Diagnostic tests such as chorionic villus sampling (CVS) or amniocentesis can confirm trisomy 13 when screening is high-risk, allowing informed pregnancy decisions.

6. Careful ultrasound scanning at 11–14 weeks and at the 20-week anatomy scan can detect structural anomalies that suggest trisomy 13, prompting further testing.

7. Avoiding unproven “preventive supplements.” No vitamin, diet, or herbal remedy has been proven to prevent Patau’s syndrome, so advertising that claims this is misleading.

8. Healthy general pregnancy behavior (no smoking, alcohol, or illegal drugs, good nutrition, and folic acid supplementation) is still important for overall fetal health, even if it cannot specifically stop trisomy 13.

9. Access to high-quality prenatal care ensures parents receive timely information, testing options, and support when abnormal results appear.

10. Documentation and counseling after an affected pregnancy help future healthcare providers offer appropriate screening and emotional support in subsequent pregnancies.

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When to see doctors

Parents and pregnant people should seek medical advice if:

• An early screening test or ultrasound suggests possible trisomy 13 or major structural anomalies.

• A newborn shows features like cleft lip or palate, extra fingers or toes, severe low muscle tone, or serious breathing and feeding problems.

• A baby with known Patau’s syndrome has signs of distress such as rapid or difficult breathing, bluish skin, vomiting, seizures, or poor feeding.

• There are questions about how aggressive treatment should be, or the family is struggling emotionally with the diagnosis and needs help with decisions.

In all these situations, care from a team including obstetricians, neonatologists, geneticists, and palliative-care professionals is important so families receive clear, kind, and realistic information.

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What to eat and what to avoid

For infants and children with Patau’s syndrome, feeding plans are always individualized. General principles include:

• Prefer breast milk when possible. Expressed breast milk, given by bottle or tube, provides ideal nutrition and immune protection.

• Use specialized formulas if needed. High-calorie or MCT-enriched formulas may be used when weight gain is poor or absorption is limited.

• Choose safe textures. For older survivors, pureed or soft foods reduce choking risk, especially if swallowing is weak.

• Offer small, frequent feeds. Smaller volumes can lessen reflux and help babies with limited stamina.

Foods or practices to avoid usually include:

• Thin liquids or hard foods in children with swallowing problems, unless cleared by a speech-language therapist.

• Honey in infants under 1 year, because of the risk of infant botulism.

• Unproven “miracle diets” or supplements marketed as cures for genetic disorders.

• Force-feeding. Feeding should be guided by medical advice and the child’s comfort, not by pressure to meet unrealistic growth targets.

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FAQs about Patau’s syndrome

1. What exactly is Patau’s syndrome?
Patau’s syndrome, or trisomy 13, is a condition where a baby has an extra copy of chromosome 13 in some or all cells. This disrupts normal development and causes severe birth defects and developmental problems.

2. Is there a cure for Patau’s syndrome?
No. Current medicine cannot remove or fix the extra chromosome. Treatment focuses on comfort and on managing problems like heart defects, breathing difficulties, and infections.

3. How long do babies with Patau’s syndrome usually live?
Sadly, many pregnancies end in miscarriage, and many babies who are born alive die within days or weeks. Only a small percentage survive beyond the first year, and they usually have severe disabilities.

4. What are the most common features of Patau’s syndrome?
Typical features include severe brain malformations, heart defects, cleft lip or palate, extra fingers or toes, eye abnormalities, and low muscle tone. Each baby is different, and not all signs appear in every child.

5. Is Patau’s syndrome always the same in every child?
No. Some children have “full” trisomy 13 in all cells, others have mosaic or partial trisomy, where only some cells are affected. Mosaic or partial forms may be milder, but serious problems are still common.

6. Did the parents do something wrong to cause this?
In almost all cases, no. Patau’s syndrome usually happens by chance because of a random error when reproductive cells are forming. Parents should not blame themselves.

7. Can Patau’s syndrome be seen before birth?
Often yes. Screening blood tests, cell-free DNA tests, and detailed ultrasounds can suggest the diagnosis, and CVS or amniocentesis can confirm it by looking directly at the chromosomes.

8. What choices do parents have after a prenatal diagnosis?
Options depend on local laws and personal beliefs. Some parents choose to continue the pregnancy with a palliative-care plan, and others may consider termination. All choices should be supported with sensitive counseling.

9. If a baby is born with Patau’s syndrome, can they go to the ICU?
Yes, but whether to use intensive treatments like ventilators or major surgery is a shared decision between the family and the care team. Many families choose comfort-focused care; some choose time-limited trials of intensive therapy.

10. Are there special medicines that treat Patau’s syndrome itself?
No. Medicines are used to treat seizures, heart failure, infections, reflux, or pain, but none can fix the extra chromosome. Research is still far from a direct gene-level treatment.

11. Do vaccines still matter for a child with Patau’s syndrome?
Yes. If the child lives long enough for routine vaccinations, protecting them from infections like pneumonia and whooping cough can be very important, but schedules may be adapted according to their condition.

12. Can children with Patau’s syndrome learn and interact?
Development is usually very limited, but many families report that their child responds to touch, sound, and light and shows preferences and personality. Interaction through cuddling, talking, and music is valuable even if milestones are not typical.

13. What support is available for families?
Support groups, palliative-care teams, social workers, psychologists, and spiritual care providers can all help. Online communities for trisomy 13 can connect families worldwide.

14. What is the chance it will happen again in another pregnancy?
Recurrence risk is usually low but slightly higher than in the general population, especially if a parent has a balanced chromosomal rearrangement. Genetic counseling and chromosome studies for the parents can clarify this.

15. What is the most important message for parents?
The most important message is that this is a severe condition that no one caused on purpose, and there is no simple cure. Parents deserve clear information, emotional support, and respect for their choices about how to care for their baby, whether that means intensive treatment, comfort-focused care, or a mix of both.

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: February 27, 2025.