Trisomy 13 (Patau Syndrome)

Types of Trisomy 13
Causes
Common symptoms and signs
How doctors make the diagnosis
Non-Pharmacological Treatments (therapies and supports)
Drug treatments
Dietary and “molecular” nutrition supports
Immunity / regenerative / stem-cell” items
Surgeries/procedures
Prevention
When to see doctors
What to eat and what to avoid
Frequently asked questions

Trisomy 13—also called Patau syndrome—is a genetic condition in which a person has three copies of chromosome 13 in their cells instead of the usual two. Humans normally have 46 chromosomes in every cell, arranged in 23 pairs. In trisomy 13, there is an extra copy of chromosome 13, so the total count is often 47. This extra genetic material changes how the body grows and develops from the very earliest stages of life. Because chromosomes carry thousands of genes, having an extra set of those genes from chromosome 13 can affect many organs at once, including the brain, face, heart, kidneys, hands and feet, and digestive system. Trisomy 13 is usually very serious. Many pregnancies end in miscarriage, and many babies who are born have severe medical needs. Some children do live beyond infancy, especially when the trisomy is mosaic (meaning only some cells carry the extra chromosome) or partial (meaning only part of chromosome 13 is extra). Trisomy 13 is not caused by anything a parent did or did not do during pregnancy. In most cases it is a random error when an egg or sperm cell is made.

Trisomy 13 means a person has three copies of chromosome 13 in their cells (instead of the usual two). That extra copy adds extra genetic instructions. During early development, those extra instructions disrupt the formation of the brain, face, heart, kidneys, limbs, and other organs. Trisomy 13 is a genetic condition present from conception; it is not caused by anything the parents did or did not do during pregnancy. It is rarer than many other genetic conditions. Many pregnancies with Trisomy 13 end in miscarriage. Among babies born alive, Trisomy 13 is uncommon, and survival into childhood is possible but limited. Some children—especially with mosaic or translocation forms—can live longer, but they usually have significant medical needs.

To understand trisomy 13, picture chromosome pairs like matching books on a shelf. For each pair, you should have two matching books—one from the mother and one from the father. In trisomy 13, a copying error during the formation of the egg or sperm puts an extra “book 13” on the shelf. The cell now reads three copies of the same instruction manual, which over-signals certain growth programs. This mismatch leads to abnormal organ formation, especially in the brain and midline structures of the face (for example, the upper lip and palate). Because the error happens so early, most or all cells in the body are affected.

Types of Trisomy 13

Full (Free) Trisomy 13
This is the most common type. Every tested cell has three separate copies of chromosome 13. It usually comes from a random error—called nondisjunction—during the making of the egg (most often) or sperm. This type generally leads to the most severe medical features because the extra chromosome is in all or nearly all body cells.
Mosaic Trisomy 13
In mosaic cases, some cells have trisomy 13 and some cells are normal (two copies). The mixture happens because the error occurs after fertilization—during early cell divisions of the embryo. The result can be milder or highly variable features depending on how many and which tissues carry the extra chromosome.
Translocation Trisomy 13 (Robertsonian Translocation)
Here, the extra material from chromosome 13 is attached to another chromosome, usually chromosome 14 or 21, instead of existing as a separate third chromosome 13. The total number of chromosomes can be 46, but there is extra 13 material “piggy-backing” on another chromosome. Sometimes a parent carries a balanced translocation (no extra or missing material in the parent), which can increase the chance of having a child with unbalanced translocation trisomy 13.
Partial Trisomy 13 (13q Duplication)
Only a segment (piece) of the long arm of chromosome 13 (called 13q) is extra. The signs depend on which genes are duplicated and how large the duplicated segment is. Some children have patterns that overlap with classic trisomy 13; others have a more limited set of problems.
Isochromosome 13q
An isochromosome forms when a chromosome has two identical long arms and loses the short arms, creating a duplicate of 13q. Functionally, this behaves like extra 13q material, so the medical picture often resembles partial or full trisomy 13.
Ring Chromosome 13 with Trisomic Material
Rarely, a chromosome 13 breaks and its ends join to form a ring. If the ring includes extra 13 material, some features of trisomy 13 appear. Ring chromosomes can be unstable during cell division, so the clinical picture varies widely.
Segmental Mosaicism for 13q
A very rare situation in which only some tissues carry a duplicated segment of 13q. The medical findings are usually patchy or asymmetric, reflecting which tissues carry the duplication.

Causes

Important note: In nearly all cases, trisomy 13 results from random chromosome separation errors. Most families have no known environmental cause. Many of the items below describe mechanisms and risk factors, not “blame.”

Maternal meiotic nondisjunction (Meiosis I)
During egg formation, chromosome pairs must separate. If pair 13 fails to split in the first division, the egg may keep both copies, leading to a trisomic embryo after fertilization.
Maternal meiotic nondisjunction (Meiosis II)
Even if the first split is correct, the second split can fail. If sister chromatids of chromosome 13 do not separate, the egg carries two copies of 13.
Paternal meiotic nondisjunction
Less common than in eggs, but the same mis-separation can happen in sperm formation, producing a sperm with two copies of chromosome 13.
Post-zygotic mitotic nondisjunction
After the egg and sperm unite, early embryo cells divide. If a dividing cell fails to pull chromosome 13 copies apart, some descendant cells become trisomic—this is mosaic trisomy 13.
De novo Robertsonian translocation involving 13
A new (de novo) fusion between chromosome 13 and another acrocentric chromosome (often 14 or 21) can create extra 13 material in the child.
Inherited balanced Robertsonian translocation in a parent
A parent may be healthy with 45 chromosomes due to a balanced translocation. When forming eggs or sperm, the translocation can segregate in a way that the child receives extra 13q material (unbalanced), causing trisomy 13.
Isochromosome formation of 13q
Errors in the centromere can make an isochromosome, duplicating 13q and effectively adding an extra long arm of chromosome 13.
Ring chromosome instability including extra 13 material
Structural breaks and re-joining into a ring can add or remove material; if extra 13q is present, it acts like a partial trisomy.
Advanced maternal age
As egg cells age, the machinery that keeps chromosome pairs together (cohesin proteins and the spindle checkpoint) works less reliably. This raises the chance of nondisjunction for any chromosome, including 13.
Abnormal recombination (“crossover”) during meiosis
If crossovers along chromosome 13 are too few or misplaced, the chromosomes may separate poorly, increasing nondisjunction risk.
Spindle assembly checkpoint weakness
The cell’s quality-control system for chromosome separation can be imperfect, allowing an error to slip through during egg or sperm formation.
Maternal cohesin degradation
Cohesin acts like a molecular glue holding chromosome copies together. With age or other biologic factors, this glue can weaken, leading to nondisjunction.
Centromere or kinetochore defects
Subtle problems at the attachment site for spindle fibers can disrupt the pulling apart of chromosome 13 copies.
Gonadal mosaicism in a parent
A parent can have a small population of egg or sperm cells with a chromosome 13 error, even though blood tests look normal. This can explain recurrence in rare families.
De novo duplication of a 13q segment
Random break-and-rejoin events can duplicate a segment of 13q in the embryo, leading to partial trisomy 13.
Parental inversion or subtle structural variant involving 13
Very rarely, a parent carries a hidden structural change that increases the chance of a 13q duplication in offspring.
Mosaic rescue gone wrong
Sometimes embryos start trisomic and later “rescue” themselves by losing a chromosome copy. If the process is incomplete or patchy, a mosaic pattern remains.
Triploid or polyploid conceptus with surviving trisomic cell line
In complex early errors, a trisomic line can persist as other abnormal lines are lost, resulting in mosaic trisomy.
Chromothripsis or complex rearrangements
Very rare catastrophic chromosome events can rearrange DNA and duplicate 13q segments, causing a partial trisomy picture.
Stochastic (random) events without identifiable risk
Even with perfect health and no risk factors, chance errors in cell division can create trisomy 13. Most families fall into this category.

Common symptoms and signs

Not every child will have all of these. Features vary, especially in mosaic or partial forms.

Severe developmental and intellectual disability
Because the brain forms abnormally very early, children often have major delays in learning, movement, and communication.
Holoprosencephaly (midline brain formation problem)
The front part of the brain may not split into two hemispheres as expected. This can range from severe to mild and often explains facial differences.
Cleft lip and/or cleft palate
The upper lip and the roof of the mouth may not join completely, leading to feeding and speech challenges and risk of ear infections.
Microphthalmia or anophthalmia
One or both eyes may be very small or absent, reducing or eliminating vision.
Scalp defects (aplasia cutis)
Small areas of missing skin on the scalp, often at the top/back of the head, can be present at birth.
Postaxial polydactyly
Extra finger(s) or toe(s), usually on the outer (little-finger or little-toe) side of the hands or feet.
Congenital heart defects
Common problems include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), and more complex defects, causing poor oxygenation, heart failure, or poor growth.
Hypotonia (low muscle tone)
Babies often feel floppy and may have weak sucking and delayed head control.
Feeding difficulties and poor weight gain
Due to cleft palate, low tone, and heart or breathing issues, many babies struggle to coordinate suck-swallow-breathe and need special feeding plans.
Seizures
Electrical signals in the brain can misfire, causing convulsions or staring spells; these can start in infancy.
Breathing problems and apnea
Structural airway issues, low tone, and brainstem dysfunction can cause pauses in breathing and low oxygen levels.
Kidney and urinary tract anomalies
Problems can include polycystic-appearing kidneys, hydronephrosis (swelling), or abnormal kidney position/shape.
Gastrointestinal anomalies
Examples are omphalocele (abdominal organs outside the body at birth), malrotation, or tracheoesophageal fistula (abnormal connection between windpipe and food tube).
Hearing loss
Can be sensorineural (inner ear/nerve) or conductive (middle ear), often worsened by frequent ear infections.
Growth restriction
Many babies have low birth weight and slow growth after birth due to the combined medical challenges.

How doctors make the diagnosis

Diagnosis can happen before birth (prenatal) or after birth (postnatal). Suspicion often starts with ultrasound findings or physical features at delivery. Confirmation requires genetic testing to show extra material from chromosome 13. The medical team then checks all major organ systems to plan care.

A) Physical Examination

Newborn comprehensive exam
A head-to-toe check at birth looks for facial differences (cleft lip/palate, eye size), scalp defects, extra fingers/toes, muscle tone, heart murmurs, abdominal wall defects, and genital differences. This clinical picture often raises early suspicion for trisomy 13.
Neurologic examination
The clinician checks muscle tone, reflexes, alertness, and seizure signs. Abnormal findings support the presence of brain development differences common in trisomy 13.
Cardiovascular examination
Listening with a stethoscope for murmurs, checking oxygen saturation, and evaluating for signs of heart failure (like poor feeding and sweating with feeds) help identify congenital heart disease.
Craniofacial and oral exam
A focused look at the lip, palate, jaw, nose, and eyes documents clefting, microphthalmia, and other midline features that point toward a chromosomal condition.
Skin and scalp inspection
Identifying aplasia cutis (areas without skin) and other cutaneous markers adds weight to the clinical suspicion and guides wound care.

B) Manual (bedside) tests

Feeding and suck-swallow-breathe assessment
A trained clinician evaluates how the infant latches, sucks, and coordinates breathing during feeding. This identifies aspiration risk and the need for special nipples or feeding tubes.
Anthropometry (growth measurements)
Careful measurements of weight, length, head circumference, and limb proportions help track growth restriction and support the diagnosis when combined with other signs.
Ophthalmoscopic exam
A bedside look into the eyes with a handheld scope assesses eye size, retina, and optic nerve. Findings can include microphthalmia or other structural differences.
Bedside hearing screen (otoacoustic emissions)
A quick, non-invasive test in the nursery measures echoes from the inner ear after sound stimulation. Failed screens prompt detailed testing, since hearing loss is common.

C) Laboratory & Pathological tests

Karyotype (postnatal or prenatal)
This is the gold-standard chromosome picture. It shows whether there are three copies of chromosome 13 (full trisomy), a translocation that carries extra 13 material, or mosaicism. It directly confirms trisomy 13 and identifies the type.
Fluorescence In Situ Hybridization (FISH)
FISH uses glowing DNA probes that stick to chromosome 13. It gives a rapid answer (often within 1–2 days) about whether extra 13 signals are present while the full karyotype is pending.
Chromosomal microarray (CMA)
CMA scans the genome at thousands of points to detect small duplications or deletions. It is especially useful for partial trisomy 13 (13q duplication) and can detect imbalances that karyotype might miss.
Cell-free DNA screening (NIPT) in pregnancy
A blood test from the pregnant person analyzes placental DNA fragments in the bloodstream. It can detect increased risk for trisomy 13. It is a screen, not a diagnosis; abnormal results must be confirmed by CVS or amniocentesis.
Chorionic villus sampling (CVS)
During the first trimester, a small placental sample is taken with a thin tube or needle. The cells are tested with karyotype/FISH/microarray. CVS can diagnose trisomy 13 early in pregnancy.
Amniocentesis
In the second trimester, a needle draws amniotic fluid. Fetal cells in the fluid are tested by karyotype/FISH/microarray. Amniocentesis confirms trisomy 13 with high accuracy.

D) Electrodiagnostic tests

Electrocardiogram (ECG/EKG)
Sticky patches on the chest record the electrical activity of the heart. It helps detect arrhythmias (abnormal rhythms) that can occur with congenital heart disease found in trisomy 13.
Electroencephalogram (EEG)
Small sensors on the scalp record the brain’s electrical patterns. EEG helps confirm seizures, measure severity, and guide treatment.

E) Imaging tests

Fetal ultrasound (prenatal)
Ultrasound can suggest trisomy 13 by showing holoprosencephaly, cleft lip/palate, heart defects, polydactyly, omphalocele, and growth restriction. These findings trigger genetic testing.
Echocardiogram (postnatal)
An ultrasound of the heart checks for VSD, ASD, PDA, and more complex defects. It guides cardiology care, medications, and sometimes procedures.
Brain imaging (cranial ultrasound or MRI)
After birth, imaging can identify holoprosencephaly, ventricular abnormalities, and other brain differences. MRI gives the most detail when the child is stable.

Non-Pharmacological Treatments (therapies and supports)

These are core supports. They reduce distress, prevent complications, and improve comfort and family quality of life. They do not “cure” the chromosome difference but can make a meaningful difference in day-to-day care.

Family-centered care planning: a clear, compassionate plan aligning medical options with family values and goals (comfort care vs. maximal interventions). Purpose: clarity and dignity. Mechanism: shared decision-making.
Neonatal stabilization (airway–breathing–circulation): gentle suction, positioning, oxygen or CPAP if needed. Purpose: safe transition. Mechanism: supports gas exchange.
Thermoregulation: warmers/skin-to-skin. Purpose: prevent cold stress. Mechanism: reduces oxygen and calorie burn.
Feeding therapy (speech/swallow): pacing, positioning, thickened feeds when appropriate. Purpose: safer feeding. Mechanism: reduces aspiration risk.
Lactation support: help with breastfeeding or expressed milk, or specialized formulas if required. Purpose: optimal nutrition. Mechanism: human milk supports immunity and gut health.
Enteral access planning: NG tube initially; GT (gastrostomy) if long-term. Purpose: safe calories. Mechanism: bypasses unsafe oral feeding.
Reflux precautions: upright holding after feeds, slow volumes, burping. Purpose: reduce vomiting/aspiration. Mechanism: gravity and pacing.
Seizure first-aid training: caregiver education. Purpose: safety during events. Mechanism: prevents injury and guides when to call EMS.
Physical therapy: range-of-motion, positioning, tone management. Purpose: prevent contractures, aid comfort. Mechanism: neuro-muscular stimulation.
Occupational therapy: daily-living supports, adapted equipment. Purpose: function and comfort. Mechanism: task adaptation.
Vision supports: ophthalmology input, lighting/contrast strategies. Purpose: maximize residual vision. Mechanism: environmental optimization.
Hearing supports: hearing testing, aids if indicated. Purpose: engagement and bonding. Mechanism: amplification/communication strategies.
Cleft/craniofacial team care: special bottles/plates, timing of repair discussion. Purpose: feeding, later speech. Mechanism: multidisciplinary expertise.
Cardiac monitoring: feeds paced by cardiopulmonary status; watch for failure signs. Purpose: avoid decompensation. Mechanism: early detection.
Skin/wound care for scalp defects or pressure areas. Purpose: infection prevention. Mechanism: barrier protection and hygiene.
Infection prevention: hand hygiene, limiting sick contacts, updated household vaccines. Purpose: fewer infections. Mechanism: lowers exposure.
Comfort-focused palliative care (can start on day one). Purpose: relieve pain, breathlessness, agitation. Mechanism: symptom assessment and non-drug strategies.
Sleep safety: supine sleep positioning, safe sleep environment. Purpose: reduce SIDS risk. Mechanism: evidence-based positioning.
Caregiver mental-health support: counseling, support groups, respite care. Purpose: reduce burnout. Mechanism: psychosocial support.
Early intervention services: state or local programs for therapy and developmental support. Purpose: maximize abilities. Mechanism: regular, structured stimulation.

Drug treatments

There is no medicine that removes the extra chromosome. Medicines treat symptoms or complications. In infants and children, doses are individualized by weight and condition—always set by a neonatologist/pediatrician/pharmacist.

Anticonvulsants (e.g., levetiracetam; sometimes phenobarbital in neonates). Purpose: reduce seizures. Mechanism: stabilizes brain electrical activity. Side effects: sleepiness, behavioral changes (drug-specific).
Diuretics (e.g., furosemide) for heart failure due to structural defects. Purpose: reduce lung fluid and swelling. Mechanism: kidney salt/water excretion. Side effects: electrolyte shifts, dehydration.
ACE inhibitors (e.g., captopril, enalapril) in select cardiac lesions. Purpose: lower cardiac workload. Mechanism: relaxes blood vessels. Side effects: low blood pressure, kidney effects, cough (class-specific).
Prostaglandin E1 (alprostadil) infusion (NICU) for ductal-dependent heart lesions. Purpose: keep ductus arteriosus open as a bridge to decisions. Mechanism: smooth muscle relaxation in ductus. Side effects: apnea, fever, flushing (monitored in ICU).
Antibiotics for proven or suspected infections. Purpose: treat sepsis, pneumonia, UTIs. Mechanism: pathogen-specific killing. Side effects: gut upset, allergic reactions (drug-dependent).
Acid suppression (H2 blockers or PPIs) when severe reflux causes pain/aspiration. Purpose: reduce acid injury. Mechanism: lowers gastric acid. Side effects: altered gut flora, potential nutrient effects (use only when needed).
Bronchodilators/inhaled meds if chronic lung disease or wheeze. Purpose: ease breathing. Mechanism: relax airway muscles. Side effects: jitteriness, tachycardia (drug-specific).
Analgesics/antipyretics (e.g., acetaminophen) for pain/fever. Purpose: comfort. Mechanism: central pain/fever pathways. Side effects: liver toxicity if overdosed (dosing must be exact).
Ophthalmic lubricants/antibiotic drops for eye surface issues or infections. Purpose: protect cornea, treat conjunctivitis. Mechanism: moisture/antimicrobial. Side effects: irritation (rare).
Micronutrient supplementation when deficient (e.g., iron, vitamin D, calcium/phosphate in medically indicated cases). Purpose: correct deficiencies. Mechanism: replenishment. Side effects: constipation with iron, etc.

Dosing note: Neonatal and pediatric dosing is strictly weight-based and must be prescribed by the child’s care team.

Dietary and “molecular” nutrition supports

Supplements do not change chromosomes, but nutrition strongly affects growth, immunity, bone health, and healing. Use only under clinician/dietitian advice, especially in infants.

Human milk (mother’s milk or donor milk if available): optimal immune and gut support. Mechanism: antibodies, oligosaccharides, bioactive factors. Typical “dose”: as the primary feed when safe.
Calorie-dense formula or fortified milk (when weight gain is poor): adds calories without large volumes. Mechanism: higher energy per mL.
Medium-chain triglyceride (MCT) oil (if malabsorption or high energy needs): easy-to-absorb fats. Mechanism: portal absorption.
Vitamin D (if deficient or per pediatric guidance): bone/immune support. Mechanism: calcium regulation, immune modulation.
Iron (only if iron-deficient or per guidelines): prevents anemia. Mechanism: hemoglobin synthesis.
Calcium and phosphorus (if required): bone mineralization, especially in chronically ill infants.
DHA/ARA (in many infant formulas; discuss with clinician): neuronal/retinal support.
Thickening agents (only when a clinician recommends for aspiration risk): slows flow for safer swallowing.
Probiotics (case-by-case in older infants/children): gut barrier support; evidence in preterm NEC prevention is specific and protocol-bound—do not start without medical advice.
Electrolyte-balanced oral rehydration during illness (for older infants/children if appropriate): prevents dehydration.

Immunity / regenerative / stem-cell” items

There are no approved “hard immunity booster,” regenerative, or stem-cell drugs that treat Trisomy 13 or change outcomes by fixing chromosomes. Below are legitimate, evidence-based prevention or support tools used in infants generally. Use only if your team recommends them.

Routine childhood vaccines (per national schedule). Function: prevent serious infections. Mechanism: teaches immune system safely.
Maternal vaccines during pregnancy (e.g., influenza, Tdap, as recommended). Function: protect mother and newborn via antibodies.
Household “cocooning” (flu/COVID/pertussis vaccines for caregivers). Function: lowers exposure to the baby.
Palivizumab or nirsevimab (RSV-specific monoclonal antibodies) for eligible infants. Function: reduce severe RSV disease risk. Mechanism: passive antibodies.
IVIG (intravenous immunoglobulin) only in specific immune problems or severe infections, per specialist. Mechanism: passive immunity.
Nutrition-first immune support (human milk, adequate calories, vitamin D if deficient). Mechanism: foundational immune function.

What’s not recommended: unproven “immune boosters,” stem-cell infusions, or “regenerative drugs” advertised online. These are not approved for Trisomy 13 and can be risky.

Surgeries/procedures

Gastrostomy tube (GT) placement when long-term unsafe oral feeding or severe aspiration risk exists. Procedure: small abdominal incision, tube into stomach. Why: reliable nutrition/medications, less aspiration.
Cleft lip/palate repair (timing individualized). Procedure: staged surgical closure. Why: improves feeding mechanics, reduces ear infections, aids future speech.
Cardiac surgery or catheter-based interventions for certain heart defects (e.g., PDA ligation, VSD repair), only when aligned with goals of care. Why: improve cardiac function and feeding tolerance.
Polydactyly excision (if function or skin problems). Procedure: remove extra digit. Why: comfort, hygiene, function.
Neurosurgical repair for selected spinal/meningeal defects (e.g., meningomyelocele), only when benefits outweigh burdens. Why: protect neural tissue, reduce infection risk.

Many families choose comfort-focused care without major surgery. Others choose selected interventions. Both paths are valid and should be respected.

Prevention

We cannot prevent most cases of Trisomy 13 because they are random. But families can reduce risks in future pregnancies and improve safety through planning.

Genetic counseling for parents (especially if translocation Trisomy 13 was found) to discuss recurrence risk.
Parental karyotyping if translocation is suspected to see if either parent is a carrier.
Preimplantation genetic testing (PGT) with IVF for known translocation carriers who desire it.
Early prenatal care with options for NIPT screening and, if needed, CVS or amniocentesis for diagnosis.
Preconception health: optimize chronic conditions (e.g., diabetes), stop smoking, avoid alcohol/drugs; these steps don’t prevent Trisomy 13 but improve pregnancy health.
Folic acid before and during early pregnancy (prevents neural tube defects generally; it doesn’t prevent Trisomy 13 but supports fetal development).
Avoid known teratogens (certain medications, toxins) per clinician advice; again, these do not cause or prevent Trisomy 13 but reduce other risks.
Vaccinations (maternal and household) to reduce infections during pregnancy and infancy.
Delivery planning at a hospital with NICU and cardiology if Trisomy 13 is known prenatally.
Home safety planning for infants who discharge: CPR training for caregivers, equipment checks, clear follow-up schedules.

When to see doctors

During pregnancy:

Positive or high-risk NIPT result, or ultrasound showing major anomalies → see maternal-fetal medicine and genetics to discuss options and confirmatory testing.
Fever, bleeding, fluid leakage, severe pain, or decreased fetal movement → urgent evaluation.

After birth/infancy:

Breathing problems, bluish color, pauses in breathing, or fast breathing → emergency care.
Poor feeding, choking, vomiting, weight loss, or dehydration signs → same-day evaluation.
Fever in a newborn or any baby looking unwell → urgent care.
Seizures or unusual repetitive movements, unresponsiveness → emergency care.
Worsening heart failure signs (sweaty feeding, poor weight gain, swelling) → prompt cardiology review.
New wounds/skin infection, eye redness/pain, foul-smelling urine → timely care.
Any major change in behavior or alertness → urgent assessment.

What to eat and what to avoid

Feeding plans in Trisomy 13 are highly individualized. Always work with your team.

What to focus on:

Human milk when possible (direct or expressed), or formula chosen by your clinician.
Small, paced feeds with careful burping and upright positioning after feeds to reduce reflux/aspiration.
Calorie fortification (as advised) to support growth without large volumes.
Texture modification (thickened feeds) only if prescribed after a swallow study.
Hydration during illness using clinician-approved fluids.
Dietitian follow-up to adjust calories, protein, and micronutrients.

What to avoid:

Unsupervised supplements or “immune boosters.”
Honey in infants under 1 year (botulism risk).
Choking hazards (nuts, hard chunks) when solids are introduced later.
Lying flat right after feeds if reflux/aspiration risk is present.
Over-the-counter reflux thickeners without professional guidance—some are not safe for young infants.

Frequently asked questions

Can Trisomy 13 be cured?
No. The extra chromosome is in the body’s cells from conception. Care focuses on comfort, preventing complications, and supporting the family’s goals.
Did we do something to cause this?
No. In almost all cases, it is a random event during egg or sperm formation.
Will another pregnancy have the same condition?
Most families have a low recurrence risk, but if a parent carries a translocation, risk is higher. Genetic counseling and possible parental karyotyping are recommended.
What is mosaic Trisomy 13?
Only some cells carry the extra chromosome. Features may be milder, but needs can still be significant.
How is it diagnosed during pregnancy?
A screen (NIPT) suggests risk; a diagnostic test (CVS or amniocentesis) confirms by checking chromosomes.
What are the most urgent problems after birth?
Breathing, feeding, heart function, and body temperature. The NICU focuses on stabilization and comfort.
Is surgery always needed?
No. Some families choose comfort-focused care; others choose selected procedures (e.g., GT, cleft repair). Decisions are personalized.
Can medicines fix the chromosome problem?
No. Medicines treat symptoms like seizures, heart failure, infections, or reflux.
What is the role of palliative care?
Palliative care is about comfort, symptom relief, and supporting the family—it can be provided alongside other treatments from day one.
Can special diets or supplements change the outcome?
No diet changes chromosomes. Nutrition supports growth and immunity, but supplements should be clinician-guided.
What is holoprosencephaly?
A brain difference where the forebrain doesn’t fully divide. It can affect breathing, feeding, seizures, and development.
Will my child learn and interact?
Many children show awareness, bonding, and responses to touch, voice, and light, especially with therapies and sensory adaptations. Developmental delays are expected.
What about vaccinations?
Vaccines are strongly recommended unless a clinician advises otherwise. They prevent serious infections.
How do we protect our baby at home?
Hand hygiene, limiting sick contacts, up-to-date vaccines for the household, safe sleep, and caregiver CPR training if advised.
Where can we find support?
Your hospital social worker, palliative care team, local early intervention services, and credible family support organizations can help with information, equipment, and emotional support.

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: August 29, 2025.

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