Complete Trisomy 13 Syndrome

Complete trisomy 13 syndrome (also called Patau syndrome) is a genetic condition where every cell in the baby’s body has three copies of chromosome 13 instead of the normal two. This extra copy carries extra genetic material, which confuses the body’s growth plan during early pregnancy. Because of this, many organs, such as the brain, face, heart, kidneys, and limbs, do not form in the usual way. Complete trisomy 13 is usually very serious and often life-limiting, and many pregnancies end in miscarriage or the baby dies in the first months of life.

Complete trisomy 13 syndrome, also called Patau syndrome, happens when every cell in a baby’s body has an extra copy of chromosome 13 instead of the usual two copies. This extra genetic material changes how the baby’s body and organs grow, starting very early in pregnancy. It often causes serious brain, heart, face, limb, kidney, and breathing problems, and many pregnancies end in miscarriage or stillbirth. Only a small number of babies survive beyond the first year, and those who survive have severe developmental disability and complex medical needs. [1]

Other names

Doctors and medical books use several other names for complete trisomy 13 syndrome. All of these names describe the same basic condition, where there is an extra copy of chromosome 13 in the cells:

• Patau syndrome – named after Dr. Klaus Patau, who first clearly described the condition.

• Trisomy 13 – this means “three copies of chromosome 13”.

• Complete trisomy 13 – this stresses that all or almost all cells have the extra chromosome.

• Full trisomy 13 – another way to say complete trisomy 13.

• Trisomy D or T13 – shorter scientific names sometimes used in genetics.

Types related to trisomy 13

Even though you are mainly asking about complete trisomy 13, it is helpful to know the other related genetic types. The type depends on how the extra chromosome 13 is arranged in the cells.

• Complete (full) trisomy 13
  In this most common type, every tested cell has three separate chromosome 13s. This is usually caused by an error when the egg or sperm is made. It is the type linked with the most severe problems in the baby.

• Translocation trisomy 13
  In this type, the extra chromosome 13 (or part of it) is stuck (translocated) onto another chromosome. The baby still has three copies of most or all of chromosome 13, but the extra copy is attached to another chromosome. Sometimes one parent is a “balanced translocation carrier”, which means they have the same pieces but in a different, harmless order, and can pass on an unbalanced form to the baby.

• Mosaic trisomy 13
  In this rare type, some cells in the body have trisomy 13 and some cells are normal. Because not all cells are affected, the symptoms can be milder than in complete trisomy 13, but serious health problems are still common.

Causes (mechanisms and risk factors )

The main cause of complete trisomy 13 is an extra copy of chromosome 13 made by chance when the egg or sperm forms. Many “causes” listed below are different ways of describing this error, or situations that increase the risk of it happening. Most cases are not due to anything the parents did or did not do.

1. Extra chromosome 13 (aneuploidy)
   The direct cause of complete trisomy 13 is that each cell has three copies of chromosome 13 instead of two. This extra genetic material sends too many instructions to developing tissues and organs, which leads to the many birth defects seen in this syndrome.

2. Meiotic nondisjunction in the egg cell
   In most cases, the error happens when the mother’s egg cell divides. Chromosome 13 fails to split into two equal groups (nondisjunction). One egg then gets two copies of chromosome 13 instead of one. When this egg joins with a normal sperm, the baby ends up with three copies.

3. Meiotic nondisjunction in the sperm cell
   Less often, the error occurs when the father’s sperm is formed. Chromosome 13 does not separate properly in the sperm, so the sperm carries two copies of chromosome 13. When this sperm fertilizes a normal egg, the result is complete trisomy 13.

4. Error in meiosis I
   Sometimes the nondisjunction happens at the first stage of cell division (meiosis I), when matching pairs of chromosome 13 should separate. If they stay together, both copies move into the same daughter cell and later give rise to an egg or sperm with two copies of chromosome 13.

5. Error in meiosis II
   In other cases, the chromosome pair splits correctly at first, but later, at meiosis II, the sister copies of chromosome 13 do not separate. This again creates a sex cell with two copies of chromosome 13, which can lead to a baby with complete trisomy 13.

6. Advanced maternal age
   The risk of having a baby with trisomy 13 rises as the mother’s age increases, especially after age 35. Older egg cells have a higher chance of nondisjunction, so the chance of an extra chromosome 13 also becomes higher. However, trisomy 13 can still happen in younger women.

7. General age-related changes in egg cell quality
   As the ovaries age, the structures that hold chromosomes in place may weaken. This age-related damage to the spindle fibres and other cell parts can make chromosome separation less accurate and increase the chance of trisomy 13.

8. Robertsonian translocation involving chromosome 13 in a parent
   Some parents carry a balanced fusion between chromosome 13 and another chromosome (often chromosome 14 or 21). They are usually healthy, but their eggs or sperm can receive extra chromosome 13 material. This can lead to complete or nearly complete trisomy 13 in the baby.

9. Parental balanced translocation carrier (mother)
   If the mother is a balanced translocation carrier with chromosome 13 involved, she has a higher chance of having a baby with unbalanced chromosome material, including full or partial trisomy 13. Genetic testing of the parents can find this.

10. Parental balanced translocation carrier (father)
    The same is true if the father carries a balanced translocation including chromosome 13. His sperm may carry an unbalanced set of chromosomes, which can cause trisomy 13 or other chromosome problems in the baby.

11. Germline (gonadal) mosaicism in a parent
    Rarely, some of a parent’s egg or sperm cells may carry a trisomy or rearrangement even though their blood cells look normal. This is called germline mosaicism. It can slightly increase the chance of trisomy 13 in future pregnancies in that family.

12. Previous pregnancy with trisomy 13
    Parents who have had one pregnancy with trisomy 13 have a somewhat higher chance of it happening again, compared with the general population. This does not mean it will happen again, but it is a known risk factor and is why genetic counselling is recommended.

13. Family history of structural chromosomal rearrangements
    If there are relatives with known translocations or other chromosome changes involving chromosome 13, it may mean the family has a higher background risk of trisomy 13 or similar conditions.

14. Errors during early embryo cell divisions (mitosis)
    Although mosaic trisomy 13 usually comes from mitotic errors, a very early mitotic error in a complete trisomy 13 embryo can help explain why some tissues may show different levels of trisomy. These cell-division errors reflect instability of chromosome separation in early development.

15. General maternal factors that raise risk of aneuploidy
    Research on other trisomies (such as Down syndrome) suggests that some women have a higher basic risk of nondisjunction due to genetic or environmental factors, even at the same age, although these are not fully understood. This background risk may also apply to trisomy 13.

16. Chance (sporadic) nondisjunction with no clear risk factor
    Many cases happen in families with no known risk factors and normal parental chromosomes. In these pregnancies, the cause is described as a random or sporadic nondisjunction event, which is part of natural biological variation.

17. Assisted reproduction with older parental age
    When assisted reproductive technologies (like IVF) are used at older maternal ages, the age-related risk of nondisjunction still applies. The technology does not remove the extra-chromosome risk; it simply helps fertilization and implantation.

18. Possible genetic variations affecting chromosome separation
    Studies of other trisomies suggest that certain inherited differences in genes that control meiosis and chromosome separation may slightly change the risk of nondisjunction. These variations are still under study and are not usually checked in routine care.

19. Parental exposure to toxins or radiation (uncertain, under study)
    Strong radiation or certain toxic exposures can damage dividing cells. Scientists have considered whether such exposures could increase chromosome errors, but for trisomy 13, firm proof is limited. So this is more a theoretical concern than a proven cause.

20. Unknown and multifactorial influences
    In many pregnancies with complete trisomy 13, doctors cannot point to any single reason. The condition likely results from a mix of chance, maternal age, genetic background, and environmental factors that together affect how chromosomes separate.

Symptoms and signs

Babies with complete trisomy 13 usually have many health problems at birth. These signs can vary from baby to baby, but several features are common.

1. Severe growth restriction (small baby)
   Many babies with trisomy 13 are small for their gestational age before birth. The placenta and baby do not grow as expected, so the baby’s weight and length are often low at delivery.

2. Microcephaly (small head)
   The head is often smaller than normal because the brain does not grow fully. This can be seen on prenatal ultrasound or at birth and reflects serious problems in brain development.

3. Holoprosencephaly (brain does not split properly)
   In many babies, the front part of the brain fails to divide into two clear halves. This is called holoprosencephaly and can lead to seizures, feeding problems, breathing issues, and abnormal facial features.

4. Characteristic facial features
   Babies may have a small forehead, closely spaced eyes, a small jaw, and low-set ears. The nose may be flat or under-developed. These features come from the disturbed growth of bone and soft tissues of the face during early development.

5. Cleft lip and/or cleft palate
   Many infants have a split in the upper lip, the roof of the mouth, or both. This happens because the tissues of the face do not fuse together fully in early pregnancy. It can cause feeding problems and later speech problems if the child survives.

6. Eye problems (microphthalmia, coloboma, or missing eye structures)
   The eyes may be very small (microphthalmia) or have gaps in their structures (coloboma). Some babies may appear to have very deep-set or almost absent eyes. These changes can greatly reduce vision.

7. Extra fingers or toes (polydactyly)
   Extra digits on the hands or feet are common. These extra fingers or toes show how the extra chromosome affects limb patterning. They can be seen on prenatal ultrasound and on newborn exam.

8. Scalp defects (cutis aplasia)
   Some babies have areas on the scalp where skin is missing at birth, usually on the top of the head. These patches may be small or large and can be at risk of bleeding or infection.

9. Congenital heart defects
   Heart problems are very common and serious. Defects can include holes between the heart chambers (ventricular septal defect, atrial septal defect), a patent ductus arteriosus, or more complex heart malformations. These problems can cause heart failure, poor feeding, and low oxygen levels.

10. Abnormal hands and feet
    Feet may be very curved (rocker-bottom feet), and there may be overlapping or clenched fingers. These features reflect both bone changes and abnormal muscle tone.

11. Kidney and urinary tract problems
    The kidneys may be cystic, small, or malformed, and the tubes that carry urine may be abnormal. These defects can lead to poor kidney function and increase the risk of infections.

12. Severe intellectual disability
    Because of the abnormal brain development, children who survive past the newborn period usually have very severe developmental delay. They often cannot sit, walk, or speak in the usual way and need full care.

13. Breathing problems and central apnea
    The brainstem, which controls breathing, may not work properly. Babies often have pauses in breathing (apnea) and may need breathing support. Lung infections are also common.

14. Feeding difficulties and poor weight gain
    Weak sucking, cleft palate, heart failure, and low muscle tone make feeding very hard. Many babies cannot feed by mouth safely and may need tube feeding if intensive care is provided.

15. Seizures and abnormal muscle tone
    Seizures can occur because of the brain malformations. Muscle tone may be very low (hypotonia) or sometimes stiff. These neurological signs are important clues on physical and neurologic examination.

Diagnostic tests

Doctors use different kinds of tests to suspect, confirm, and understand complete trisomy 13. Some tests are done during pregnancy, and some after birth.

Physical exam tests

1. General newborn physical examination
   Right after birth, a doctor or midwife checks the baby’s overall appearance, breathing, heart sounds, and reflexes. In trisomy 13, the combination of small size, facial features, extra fingers or toes, and other visible findings can strongly suggest the diagnosis before lab tests confirm it.

2. Growth measurements (weight, length, head circumference)
   The baby’s weight, body length, and head size are measured and compared with normal charts for the same gestational age. Babies with trisomy 13 often show low weight and small head size, which support the suspicion of a chromosomal syndrome.

3. Detailed dysmorphology examination
   A specialist in genetics or dysmorphology carefully notes the shape of the face, skull, hands, feet, chest, and skin. The pattern of features—such as cleft lip, small eyes, extra digits, and scalp defects—can point strongly towards trisomy 13 rather than another syndrome.

4. Neurologic examination
   The doctor checks muscle tone, reflexes, level of alertness, and response to touch and sound. Abnormal brain development in trisomy 13 often leads to poor tone, weak reflexes, and other neurologic signs that support the diagnosis.

Manual and bedside functional tests

5. Assessment of primitive reflexes (such as Moro reflex)
   The examiner tests automatic newborn reflexes, like the startle (Moro) reflex and grasp reflex. In trisomy 13, these reflexes may be weak, asymmetric, or absent because of brain and muscle problems. This gives early information about how the nervous system is working.

6. Passive range-of-motion and tone testing
   The clinician gently moves the baby’s arms, legs, and neck to feel how stiff or floppy the muscles are. Many babies with trisomy 13 are very floppy (hypotonic), which is an important clinical clue to a serious genetic or brain disorder.

7. Feeding and swallow assessment
   Nurses and speech or feeding specialists watch how the baby sucks and swallows, and whether milk goes down safely. In trisomy 13, cleft palate, weak muscles, and heart problems often cause poor feeding, coughing, or choking, which are checked in this bedside assessment.

Laboratory and pathological tests

8. Postnatal karyotype (chromosome analysis)
   This is the key test to confirm complete trisomy 13. A blood sample is taken from the baby, and the chromosomes are stained and counted under a microscope. In complete trisomy 13, there are 47 chromosomes, with three separate copies of chromosome 13 in all or nearly all cells.

9. Fluorescence in situ hybridization (FISH) for chromosome 13
   FISH uses fluorescent tags that stick to chromosome 13. It can give a faster answer than a full karyotype. In trisomy 13, three signals for chromosome 13 are seen in each cell, which supports the diagnosis while waiting for full chromosome results.

10. Chromosomal microarray analysis
    A microarray can pick up extra or missing pieces of chromosomes, including an extra copy of chromosome 13. It can be very helpful when the chromosome change is more complex, such as a translocation, or when doctors want to look for other genetic changes as well.

11. Parental karyotype
    Chromosome analysis of the parents is done, especially if the baby has a translocation form of trisomy 13 or there have been repeated pregnancy losses. If a parent is a balanced translocation carrier, this explains the mechanism and helps guide genetic counselling for future pregnancies.

12. Non-invasive prenatal testing (NIPT) – cell-free fetal DNA
    During pregnancy, blood from the mother can be tested for small fragments of fetal DNA in the bloodstream. NIPT can screen for common trisomies, including trisomy 13, with high accuracy, especially in high-risk pregnancies. However, a positive NIPT result still needs confirmatory diagnostic testing.

13. First-trimester and second-trimester serum screening
    Blood tests measuring certain pregnancy-related proteins and hormones can estimate the risk of chromosomal problems, including trisomy 13, though they are less accurate for trisomy 13 than for trisomy 21. Abnormal results guide doctors to offer more specific tests like NIPT or diagnostic procedures.

14. Chorionic villus sampling (CVS) for prenatal karyotype
    In early pregnancy (usually 10–13 weeks), a small sample of placental tissue can be taken and analyzed for chromosomes. CVS allows an early, definite diagnosis of trisomy 13 when parents choose to know this information.

15. Amniocentesis for prenatal karyotype
    Later in pregnancy (from about 15 weeks), doctors can take a small sample of amniotic fluid around the baby. Fetal cells from this fluid are grown and used to make a karyotype. This test confirms trisomy 13 if screening tests or ultrasound suggest a problem.

Electrodiagnostic tests

16. Electrocardiogram (ECG)
    An ECG records the electrical activity of the heart. In trisomy 13, heart defects can cause abnormal rhythms or strain on certain heart chambers. The ECG helps evaluate how well the heart’s electrical system is working and guides care for rhythm problems or heart failure.

17. Electroencephalogram (EEG)
    An EEG records electrical activity in the brain. It is used if the baby has suspected seizures, which are common in severe brain malformations like holoprosencephaly. Abnormal patterns on EEG support the diagnosis of seizures and help doctors choose treatments if active care is being provided.

Imaging tests

18. Prenatal ultrasound (anatomy scan)
    Detailed ultrasound during pregnancy can show many of the typical structural problems of trisomy 13, such as holoprosencephaly, cleft lip and palate, heart defects, kidney problems, extra digits, and growth restriction. When several such abnormalities are seen together, doctors strongly suspect a chromosomal disorder like trisomy 13 and recommend further testing.

19. Fetal echocardiography
    A special ultrasound of the fetal heart is done if a heart defect is suspected. It gives a detailed picture of the heart’s structure and blood flow, which is important because heart disease is a major contributor to sickness and death in complete trisomy 13.

20. Postnatal imaging (echocardiogram, brain MRI/CT, renal ultrasound)
    After birth, doctors often do several imaging tests: echocardiogram to confirm heart defects; brain ultrasound or MRI to look for holoprosencephaly and other brain malformations; and kidney or abdominal ultrasound to detect urinary tract anomalies. These tests help plan supportive care and give families a clearer picture of the baby’s condition.

Non-pharmacological treatments (therapies and other supports)

Below are supportive options often discussed in care plans. Not every baby will receive all of them. All decisions must be made together with a specialist team and the family. [2]

1. Family-centred palliative care
   Palliative care in trisomy 13 focuses on comfort, relief of distress, and support for the family rather than “curing” the chromosome problem. Teams help manage pain, breathlessness, feeding difficulties, and seizures using gentle methods, while also supporting parents’ emotions and choices. Planning starts soon after diagnosis and is updated as the baby’s condition changes. The goal is to maximize comfort and meaningful time together. [3]

2. Neonatal intensive care (NICU) support
   Some families choose active intensive care. In the NICU, doctors can give oxygen, breathing support, intravenous fluids, and close monitoring of heart rate, breathing, and oxygen levels. Staff adjust support hour-by-hour depending on the baby’s stability. The purpose is to treat reversible problems like infection or low oxygen while carefully weighing the burden of invasive procedures against likely benefit for this specific child. [4]

3. Non-invasive respiratory support (CPAP/high-flow oxygen)
   Babies with trisomy 13 often have weak breathing muscles, small airways, or lung problems. Non-invasive support like nasal Continuous Positive Airway Pressure (CPAP) or high-flow nasal oxygen can keep the airways open and improve oxygen levels without placing a breathing tube. Nurses watch for signs of distress, skin breakdown, and discomfort to keep care as gentle as possible. [5]

4. Mechanical ventilation (intubation) – carefully selected cases
   In some situations, families and doctors may agree to use a breathing tube and ventilator, especially if there is a treatable lung infection or after surgery. This can stabilize the baby long enough to treat a reversible cause. However, ventilation can be uncomfortable and may prolong suffering in very fragile babies, so teams discuss benefits, limits, and when to stop if it no longer helps. [6]

5. Feeding support by nasogastric tube
   Because of poor suck, cleft lip or palate, and low muscle tone, many babies cannot safely drink from the breast or bottle. A small soft tube can be passed through the nose into the stomach. Milk or formula is then given slowly through the tube to reduce the risk of choking and aspiration. Dietitians estimate calorie needs and adjust the volume and type of feed to support growth as much as possible. [7]

6. Gastrostomy tube feeding (G-tube)
   If long-term feeding difficulties are expected and the baby is stable enough, a gastrostomy tube may be placed directly into the stomach. This avoids repeated nasal tube insertions and can make feeding more comfortable and safer. It is usually considered only when the family chooses ongoing intensive treatment and there is a reasonable chance the child will survive long enough to benefit. [8]

7. Physical therapy (physiotherapy)
   Physiotherapists gently move the baby’s arms, legs, and joints to prevent stiffness and contractures. Later, if the child survives into infancy or childhood, therapy can help with head control, rolling, sitting, and positioning. The goal is not to make development “normal” but to maintain comfort, prevent pain from tight muscles, and promote the best possible mobility. [9]

8. Occupational therapy
   Occupational therapists focus on daily function, such as safe positioning for feeding, handling, and play. They may suggest special pillows, seating, or splints to support weak joints and protect fragile skin. They also teach parents ways to hold and comfort their baby, helping families feel more confident in caring for a medically complex child at home or in the hospital. [10]

9. Speech and feeding therapy
   Speech-language therapists can assess swallowing, sucking, and risk of aspiration. They might suggest special nipples, pacing strategies, or thickened feeds for those who can safely take some milk by mouth. They also help families understand when tube feeding is the safest choice. For older survivors, they support communication with sounds, gestures, or assistive devices. [11]

10. Developmental, sensory, and play therapy
    Gentle visual, auditory, and touch stimulation is used to help the baby experience comfort and connection. Simple activities like soft music, gentle rocking, skin-to-skin contact, and soft lights can reduce stress and support bonding. Therapists teach parents to watch their baby’s cues so they can avoid overstimulation and focus on calming experiences. [12]

11. Cardiac monitoring and non-surgical heart care
    Many babies with complete trisomy 13 have serious heart defects. Regular echocardiograms, ECGs, and oxygen monitoring help doctors understand how the heart is working. Some defects may be managed with medicines, careful fluid control, and oxygen, even if surgery is not chosen. The purpose is to improve comfort and reduce heart failure symptoms as much as possible. [13]

12. Kidney and fluid management
    Kidney abnormalities and heart failure can cause fluid overload or dehydration. Care teams carefully track weight, urine output, and blood tests. They may adjust fluids, feeds, and diuretics and use gentle measures like elevating the head of the bed. The aim is to maintain a stable fluid balance that eases breathing and reduces swelling without stressing the kidneys. [14]

13. Seizure monitoring and safety measures
    Seizures are common in trisomy 13. Even before medicines are chosen, staff and parents can ensure the baby lies in a safe position, protect the head, and note how long events last. EEG and neurological exams help confirm diagnosis. Education helps parents recognize seizures early and know when to call the care team or emergency services. [15]

14. Infection control and hygiene
    Babies with trisomy 13 are highly vulnerable to infections because of frequent hospital stays, tubes, and surgeries. Simple steps such as handwashing, using sterile techniques for lines and tubes, and reducing unnecessary invasive procedures lower infection risk. Families are taught about fever signs, respiratory symptoms, and when to seek urgent care. [16]

15. Pain and comfort assessment tools
    Because babies cannot talk, caregivers use pain scales based on facial expressions, crying, and body movements. Regular assessment helps doctors adjust comfort measures, such as repositioning, gentle holding, and medications if needed. The goal is to minimize pain from procedures, surgeries, or chronic conditions and to let the baby rest peacefully. [17]

16. Ethics consultation and shared decision-making
    Decisions about surgeries, ventilation, and long-term support in trisomy 13 are ethically complex. Ethics teams help families and clinicians talk honestly about prognosis, quality of life, and the family’s values. This structured discussion reduces guilt and conflict and helps everyone agree on a plan that fits the baby’s best interests and the parents’ beliefs. [18]

17. Psychological support for parents and siblings
    Having a child with trisomy 13 is extremely stressful. Psychologists, social workers, and chaplains (if the family wishes) provide emotional support, grief counselling, and help with coping strategies. They may offer sibling support sessions, memory-making activities, and links to parent groups so families feel less alone. [19]

18. Home nursing and community palliative care
    For babies who go home, community nurses can visit to check breathing, feeding, and comfort. They help manage oxygen, feeding tubes, and medications, and can arrange equipment such as suction machines and hospital-type beds. This support lets many families care for their child at home if that is their wish, with rapid access to help when problems arise. [20]

19. Genetic counselling for the family
    Genetic counsellors explain why trisomy 13 occurred, the difference between complete, mosaic, and translocation forms, and the recurrence risk in future pregnancies. They can also discuss options such as early prenatal testing in later pregnancies. This information can reduce confusion and guilt and help families make informed reproductive decisions. [21]

20. Peer support and parent networks
    Many families benefit from talking to others who have cared for a child with trisomy 13. Support groups, online communities, or local networks share practical tips and emotional understanding. Hearing different experiences of “comfort care only” or “full intervention” helps parents reflect on which path feels right for their own child and family. [22]

Drug treatments

There is no medicine that can “cure” the extra chromosome in complete trisomy 13. Drugs are used to treat complications like seizures, heart failure, reflux, pain, and infections. Doses must always be chosen by neonatologists or pediatric specialists. Below are examples of commonly used medicines with evidence in FDA prescribing information; they are not a treatment list for parents to use on their own. [23]

1. Levetiracetam (Keppra) – antiepileptic
   Levetiracetam is an antiepileptic drug used to treat partial-onset seizures, myoclonic seizures, and primary generalized tonic-clonic seizures. It can be given by IV infusion or orally. In trisomy 13, doctors may choose it to help control frequent seizures and reduce brain stress. Typical dosing is based on weight and kidney function and is gradually adjusted. Side effects can include sleepiness, irritability, appetite changes, and rarely mood or behavior changes. [24]

2. Phenobarbital – barbiturate antiepileptic
   Phenobarbital is an older anti-seizure medicine often used in newborns. It works by increasing the calming activity of GABA receptors in the brain, reducing abnormal electrical firing. In babies with trisomy 13, it may be used as first-line therapy for neonatal seizures, sometimes together with levetiracetam. Dosing is weight-based with a loading dose and maintenance doses. Side effects include sedation, breathing suppression, low blood pressure, and long-term cognitive effects, so careful monitoring is essential. [25]

3. Furosemide injection – loop diuretic
   Furosemide is a strong diuretic that helps the kidneys remove extra salt and water from the body. It is used for edema and fluid overload in heart failure or kidney problems. In trisomy 13, it may ease breathing when heart defects cause lung congestion. The pediatric IV dose is usually calculated in mg per kg and adjusted based on urine output and electrolytes. Side effects include dehydration, low blood pressure, low potassium, and hearing problems at high doses. [26]

4. Digoxin (Lanoxin) injection – cardiac glycoside
   Digoxin can strengthen heart contractions and slow heart rate in certain types of heart failure and arrhythmias. In babies with trisomy 13 and significant heart defects, it may be used to help the heart pump more effectively and improve symptoms like poor feeding and breathlessness. Pediatric doses are tiny and carefully calculated based on weight and kidney function. Toxicity can cause vomiting, poor feeding, heart rhythm changes, and visual symptoms, so regular monitoring is needed. [27]

5. Prostaglandin E1 (alprostadil – Prostin VR Pediatric)
   Some heart defects in trisomy 13 depend on the ductus arteriosus (a fetal blood vessel) staying open. Alprostadil is a prostaglandin E1 analogue given as a continuous IV infusion to keep this vessel open until surgery or a more stable plan is made. It relaxes smooth muscle in the ductus and blood vessels. Side effects can include low blood pressure, apnea, fever, and flushing, so treatment is done only in intensive care with close monitoring. [28]

6. Omeprazole (Prilosec, Zegerid, Konvomep) – proton pump inhibitor
   Omeprazole reduces acid production in the stomach by blocking the proton pump in stomach lining cells. Babies with trisomy 13 may have severe reflux that irritates the esophagus and worsens feeding and breathing. Omeprazole can be given as delayed-release capsules or oral suspension through a tube. Side effects may include diarrhea, constipation, headache, and long-term risks such as altered mineral absorption and infections with prolonged use. [29]

7. Morphine sulfate injection – opioid analgesic
   Morphine is used to relieve moderate to severe pain and sometimes to ease air hunger in advanced heart or lung disease. It activates opioid receptors in the brain and spinal cord, reducing the perception of pain and calming breathing efforts. In trisomy 13, low doses may be used during painful procedures or at the end of life for comfort. Risks include respiratory depression, low blood pressure, constipation, and potential withdrawal if used long-term, so dosing must be very cautious. [30]

8. Acetaminophen (paracetamol) – analgesic and antipyretic
   Acetaminophen is widely used for mild to moderate pain and fever. It works mainly in the brain to reduce pain perception and lower temperature set-point. In babies with trisomy 13, it can help with post-operative discomfort, fever from infections, or general discomfort, often as a first step before using opioids. Doses are carefully based on weight and timing to avoid liver toxicity, and caregivers must avoid overlapping acetaminophen products. [31]

9. Gentamicin injection – aminoglycoside antibiotic
   Babies with trisomy 13 are at high risk of serious bacterial infections, including sepsis and pneumonia. Gentamicin is a broad-spectrum antibiotic used in many neonatal sepsis protocols. It works by blocking bacterial protein production. Doses are weight- and age-based with extended intervals, and blood levels may be monitored. Side effects include kidney injury and hearing damage, so therapy duration is kept as short as safely possible. [32]

10. Piperacillin-tazobactam (Zosyn) – broad-spectrum IV antibiotic
    Piperacillin-tazobactam combines a penicillin-type antibiotic with a beta-lactamase inhibitor to treat severe infections, including hospital-acquired pneumonia and intra-abdominal infections. In some older infants or children with trisomy 13 and complex infections, it may be used in intensive care. Doses depend on weight and kidney function. Side effects include allergic reactions, diarrhea, low blood counts, and liver enzyme changes, so monitoring is important. [33]

11. Loop and thiazide diuretics combination (furosemide plus others)
    Sometimes doctors combine furosemide with other diuretics (such as chlorothiazide) to manage stubborn fluid overload in heart failure. Using different mechanisms in the kidney can increase urine output. This strategy is only used with careful monitoring of electrolytes, kidney function, and blood pressure, because the risk of dehydration and electrolyte imbalance is higher. [34]

12. ACE inhibitors (e.g., captopril or enalapril)
    ACE inhibitors lower blood pressure and reduce the workload on the heart by relaxing blood vessels and reducing harmful hormones. In some children with trisomy 13 who survive long enough and have chronic heart failure, ACE inhibitors may improve symptoms and growth. Doses are titrated slowly, and kidney function and potassium are checked regularly. Side effects include cough, high potassium, low blood pressure, and kidney problems. [35]

Note: The exact choice and dosing of medicines always depend on the baby’s unique heart, kidney, brain, and lung problems. Parents should never start, stop, or change medicines without direct guidance from their child’s specialist team. [36]

Dietary molecular supplements

There is no supplement that can fix the extra chromosome in complete trisomy 13. Supplements may be considered to support general nutrition, but they must be prescribed by pediatric specialists and dietitians to avoid harm. Evidence is mostly indirect (from general pediatric and critical-care nutrition), not specific to trisomy 13. [37]

1. Energy-dense formula
   Energy-dense formulas provide more calories in a smaller volume, which is helpful when babies tire easily during feeds or need fluid restriction because of heart failure. They often contain balanced protein, carbohydrates, and fats plus vitamins and minerals. The goal is to support growth without overwhelming the heart and lungs with excess fluid. Dietitians adjust concentration slowly and monitor weight gain, stool patterns, and tolerance. [38]

2. Medium-chain triglyceride (MCT) oil
   MCT oil contains special fats that are easier to absorb and quickly provide energy. It can be added in small amounts to breast milk or formula when extra calories are needed. MCTs do not require normal bile function and are useful if there are intestinal or liver issues. However, too much can cause diarrhea and discomfort, so dosing is carefully titrated and reviewed often. [39]

3. Protein-enriched feeds
   Some medically fragile infants need extra protein to support tissue repair, immune function, and growth. Protein-enriched formulas or modular protein powders can be used under dietitian supervision. The aim is to avoid muscle loss and support healing after infections or surgeries. Kidney function and blood urea levels are monitored to ensure that protein intake is safe for the child’s renal status. [40]

4. Multivitamin drops
   Multivitamin drops can help cover gaps when intake is low or restricted. They usually include vitamins A, D, E, K, and B-complex, which support growth, bone health, vision, and nerve function. Doses are small and based on age and weight. Excessive fat-soluble vitamins can be toxic, so caregivers must avoid doubling doses from multiple products. [41]

5. Vitamin D supplementation
   Vitamin D supports bone strength, immune function, and muscle development. Babies with trisomy 13 often spend long periods indoors or in hospital beds, reducing natural sun-driven vitamin D production. A standard age-appropriate daily dose may be recommended, with adjustments if blood tests show deficiency. Too much vitamin D can raise calcium levels and damage kidneys, so medical monitoring is important. [42]

6. Iron supplementation (only if deficient)
   Iron is needed to make hemoglobin in red blood cells, which carries oxygen. If blood tests show iron deficiency anemia, iron drops may be prescribed. In trisomy 13, iron is used cautiously because heart failure and multiple transfusions can affect iron balance. Over-supplementation can irritate the gut and cause oxidative stress, so treatment is guided strictly by lab results. [43]

7. Docosahexaenoic acid (DHA) and omega-3 fatty acids
   DHA and other omega-3 fats are important for brain and eye development. Some infant formulas are already enriched with DHA; in others, supplements can be added. Evidence is general to infant development rather than specific to trisomy 13, but adequate omega-3 intake is considered beneficial. Possible side effects at high doses include bleeding tendency, so doses remain within standard infant ranges. [44]

8. Probiotics (selected strains)
   Certain probiotic strains may help maintain a healthy gut microbiome and reduce some types of diarrhea or necrotizing enterocolitis risk in premature infants. For trisomy 13 babies, use is very individualized and should be decided by neonatologists, because immunosuppression and central lines increase the risk of probiotic-related infections. If used, the goal is to support gut health while carefully monitoring for sepsis signs. [45]

9. Electrolyte and mineral supplements (sodium, potassium, calcium)
   When diuretics, kidney issues, or feeding problems disturb electrolytes, supplements may be required. These are usually given as small oral or tube doses, tailored to blood test results. Correcting imbalances helps the heart and muscles work properly and reduces arrhythmia risk. Over-replacement can be dangerous, so frequent lab checks and specialist supervision are always needed. [46]

10. Specialized hypoallergenic formulas
    If there is suspected cow’s-milk protein allergy or severe reflux with blood in the stool, hypoallergenic or amino-acid formulas may be used. These formulas contain proteins broken into very small parts or separate amino acids, making them easier to tolerate. They may reduce vomiting, discomfort, and allergic inflammation, supporting better nutrition and comfort. [47]

Drugs for immunity support and regenerative approaches

There are no approved stem cell or “regenerative” drugs that correct complete trisomy 13 itself. The medicines below may be used in other conditions to support immunity or blood cell production and, in very selected situations, might be considered for specific complications. They are not standard or routine for all children with trisomy 13. [48]

1. Intravenous immunoglobulin (IVIG)
   IVIG is a sterile solution of antibodies collected from donors. It can help boost immune defenses in children with certain antibody deficiencies or immune-mediated problems. In trisomy 13, IVIG might be considered if there are recurrent specific infections with proven immune defects. It is given by IV infusion over several hours. Side effects include fever, headache, fluid overload, and, rarely, serious reactions, so it is only used under specialist care. [49]

2. Granulocyte-colony stimulating factor (G-CSF, filgrastim)
   G-CSF stimulates the bone marrow to produce more neutrophils, a type of white blood cell that fights bacteria. In children with severe neutropenia and recurrent bacterial infections, G-CSF may shorten the duration of low counts. It is usually given as a subcutaneous injection. Side effects include bone pain, spleen enlargement, and very rarely leukemic transformation in some genetic conditions, so risks and benefits must be weighed carefully. [50]

3. Erythropoiesis-stimulating agents (ESA – erythropoietin)
   These drugs encourage the bone marrow to make more red blood cells, reducing transfusion needs in selected chronic anemias. In a trisomy 13 child with long-term anemia not easily managed by transfusions, an ESA might be considered in some centres. They are given as subcutaneous injections. Side effects include high blood pressure, clot risk, and concerns about over-correction of hemoglobin levels. [51]

4. Nutritional immune support (vitamin A, C, zinc – under prescription)
   Some clinicians may prescribe combinations of vitamins A, C, and zinc to support normal immune function and wound healing in undernourished children. The effect is supportive, not curative. Doses are adjusted to age and weight to avoid toxicity, especially for vitamin A and zinc. This approach works together with vaccines and infection-prevention measures, not instead of them. [52]

5. Experimental cell or gene-based therapies (research setting only)
   Researchers are exploring gene and cell therapies for other genetic and hematologic diseases, but no established gene or stem-cell therapy currently exists for complete trisomy 13. Participation in such studies, if ever offered, would occur only under strict research protocols with detailed consent. Families should be very cautious about unproven “stem cell” treatments advertised without robust evidence. [53]

6. Hematopoietic stem cell transplantation (HSCT) in exceptional cases
   HSCT replaces a patient’s bone marrow with donor stem cells and is used for some cancers and immune diseases. Because trisomy 13 affects all body cells and has a very limited life expectancy, HSCT is not a standard treatment. It might rarely be discussed if a child with mosaic forms has a separate malignancy where HSCT is otherwise indicated. Risks include severe infections, graft-versus-host disease, and treatment-related death. [54]

Surgeries and procedures

Surgery in complete trisomy 13 is highly individualized. Some centres offer selected operations when they are likely to improve comfort or survival; others lean toward comfort-only care. [55]

1. Cardiac defect repair or palliation
   Open-heart surgery or catheter-based procedures may repair or partially correct congenital heart defects such as ventricular septal defects or patent ductus arteriosus. The aim is to improve blood flow, reduce heart failure, and sometimes allow discharge home. These operations carry significant risks in trisomy 13, including death, stroke, or prolonged ventilation, so centres carefully select candidates and discuss goals with families.

2. PDA ligation or closure
   If a patent ductus arteriosus causes severe lung over-circulation and cannot be controlled with medicines, surgical or catheter-based closure may be performed. This relatively focused procedure may improve breathing and reduce heart strain. Risks include bleeding, infection, and recurrent laryngeal nerve injury, which can affect voice and swallowing.

3. Cleft lip and/or palate repair
   Children who survive long enough and are stable may undergo cleft lip or palate repair to improve feeding, speech potential, and appearance. Surgery is usually delayed until the child is medically stable. Anesthesia risk is higher in trisomy 13, so detailed cardiac and airway evaluation is needed before proceeding.

4. Gastrostomy tube placement
   A surgical or endoscopic gastrostomy tube provides long-term access for feeding in children who cannot safely eat by mouth. It can reduce aspiration risk and make home feeding more manageable. Risks include infection, leakage, and irritation at the skin site, plus anesthesia-related complications in fragile patients.

5. Tracheostomy
   In some cases with chronic airway obstruction or long-term ventilator dependence, a tracheostomy (a breathing tube placed through the neck into the windpipe) may be considered. It can make long-term ventilation more comfortable and sometimes allow discharge home with nursing support. However, it requires intense daily care, and families must consider whether it fits their goals for quality of life.

Prevention and risk-reduction points

Complete trisomy 13 usually happens by chance during egg or sperm formation and cannot be fully prevented. However, some steps can reduce risks or support informed choices: [56]

1. Pre-conception counselling for couples with a previous trisomy 13 pregnancy or known balanced translocation.

2. Early prenatal care with ultrasound to detect major anomalies and offer diagnostic testing when appropriate.

3. Use of chorionic villus sampling (CVS) or amniocentesis when screening indicates high risk, to clarify the fetal karyotype.

4. Genetic testing and counselling after a trisomy 13 diagnosis to understand recurrence risk.

5. Avoidance of non-prescribed teratogenic drugs, alcohol, and toxins during pregnancy.

6. Good control of maternal illnesses such as diabetes and epilepsy, with safe medications.

7. Folic acid and general nutritional support before and during early pregnancy to support overall fetal development (though this does not specifically prevent trisomy 13).

8. Planning delivery in a centre with neonatal intensive care and genetics support if trisomy 13 is suspected.

9. Vaccination of caregivers and siblings against common infections (e.g., influenza, pertussis) to protect a vulnerable infant.

10. Early involvement of palliative and ethics teams to prevent unwanted overly aggressive interventions that may not align with family goals.

When to see a doctor

Parents or pregnant people should seek medical care if an ultrasound shows multiple severe fetal anomalies, growth restriction, or concerns like brain, heart, or facial defects. After birth, urgent evaluation is needed if the baby has poor breathing, weak cry, feeding problems, abnormal facial or limb features, or seizures. Families already caring for a child with trisomy 13 should call their doctor or emergency services for breathing difficulty, repeated vomiting, extreme sleepiness, high fever, or any sudden change in behavior. Regular follow-up with neonatology, cardiology, neurology, nutrition, and palliative care is essential to adjust the care plan over time. [57]

Diet: what to eat and what to avoid

Diet for children with trisomy 13 must always be personalized. Some children feed by tube only, while others can take some food by mouth. [58]

What to focus on (10 points)

1. Breast milk when possible, as it provides ideal nutrition and immune factors; expressed milk can be given via tube.

2. Energy-dense formula if extra calories are needed in a small volume.

3. Smooth, pureed textures that are easier to swallow for children with poor oral control.

4. Thickened liquids if recommended by speech/feeding therapists to reduce aspiration risk.

5. Small, frequent feeds to reduce fatigue and reflux.

6. Adequate fluids to prevent dehydration, as advised by the care team.

7. Dietitian-guided supplements such as MCT oil or protein modules when growth is poor.

8. Micronutrient-rich foods (fruits, vegetables, fortified cereals) when oral intake is safe.

9. Calm, upright feeding positions to improve swallowing and reduce reflux.

10. Close monitoring of weight and growth charts to adjust intake promptly.

What to avoid or limit

1. Thin, fast-flow liquids in children with known aspiration risk, unless specifically cleared by therapists.

2. Foods with small, hard pieces (nuts, raw carrot, popcorn) that increase choking risk.

3. Very acidic or spicy foods that worsen reflux and cause pain.

4. High-sugar drinks that add calories without nutrients and worsen dental health.

5. Self-chosen “immune booster” supplements that have not been checked by the child’s doctor or pharmacist.

Frequently asked questions (FAQs)

1. Is complete trisomy 13 the same as Patau syndrome?
   Yes. Patau syndrome is another name for trisomy 13. “Complete” means every cell tested has an extra chromosome 13, which usually causes more severe problems than mosaic or partial forms. [59]

2. What is the life expectancy in complete trisomy 13?
   Sadly, most babies with complete trisomy 13 die during pregnancy or in the first days or weeks of life. Only a small minority live beyond one year, and those who do have severe developmental and medical challenges. [60]

3. Can trisomy 13 be cured or reversed?
   No. The extra chromosome is present in every cell from early development and cannot be removed with current medicine, surgery, or stem cell therapy. Treatment focuses on comfort and on managing complications such as heart defects, breathing problems, and seizures. [61]

4. Is intensive treatment ever offered to babies with trisomy 13?
   Yes. Newer data show that some centres offer selected surgeries and intensive care to some infants, and some children survive longer than previously thought. However, risk of death and serious disability remains very high, so decisions must be made carefully with specialists and the family. [62]

5. What is the difference between complete, mosaic, and translocation trisomy 13?
   In complete trisomy 13, all tested cells have three copies of chromosome 13. In mosaic trisomy 13, only some cells have the extra chromosome, which may lead to milder features. In translocation trisomy 13, the extra material is attached to another chromosome; recurrence risk for parents can be higher in this case. [63]

6. Did the parents do something wrong to cause trisomy 13?
   In most cases, no. Trisomy 13 usually results from a random error when eggs or sperm are formed. Maternal age can slightly increase risk, but it is not caused by normal activities, diet, or everyday stress. [64]

7. Can trisomy 13 be detected before birth?
   Yes. Screening tests (like cell-free DNA tests) and detailed ultrasound can raise suspicion. Diagnosis is confirmed with tests such as chorionic villus sampling or amniocentesis, which analyze fetal chromosomes. [65]

8. What choices do parents have after a prenatal diagnosis?
   Options may include continuing the pregnancy with a plan for comfort-focused or more intensive newborn care, or considering pregnancy termination where legal. Parents should receive non-judgmental counselling, up-to-date information, and time to consider their values and beliefs. [66]

9. If my baby has trisomy 13, will they feel pain?
   Babies with trisomy 13 can feel pain, but modern palliative and intensive care teams are skilled at recognizing and treating it. Medicines, gentle handling, and careful planning of procedures are used to keep the baby as comfortable as possible. [67]

10. Can a child with trisomy 13 ever go home?
    Yes. Some babies survive the first critical weeks and can go home with careful planning. They may need oxygen, feeding tubes, medications, and community nursing support. The care plan is adjusted if the child’s condition worsens or improves. [68]

11. What kind of development can be expected in survivors?
    Children who live longer usually have profound developmental delay. Many cannot walk or talk and need help with all daily activities. However, families often report that their child responds to touch, voice, and music and can show preferences and comfort in their own way. [69]

12. Will future pregnancies also have trisomy 13?
    Most parents who have one child with trisomy 13 will not have another, but the risk is higher than in the general population, especially if a balanced translocation is found in a parent. Genetic counselling and, if needed, parental chromosome testing help clarify the risk and options. [70]

13. Are vaccines safe for children with trisomy 13?
    In general, routine vaccines are recommended unless there is a specific medical reason to delay or avoid a particular vaccine. Because these children are very vulnerable to infections, immunization of the child and close contacts is usually strongly encouraged. Decisions should be made with the child’s pediatrician. [71]

14. What support is available for families?
    Families can receive support from hospital social workers, psychologists, palliative care teams, spiritual care providers if desired, and parent organizations focused on trisomy conditions. They may offer emotional support, financial guidance, and practical help navigating complex medical systems. [72]

15. Where can I find reliable information about trisomy 13?
    Trusted sources include national health services, academic hospital websites, genetics education hubs, and peer-reviewed resources such as clinical guidelines or reviews. These sources provide balanced information about prognosis, treatment options, and family experiences and are regularly updated as new research appears. [73]

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.