A baby’s genetic makeup is determined when the sperm meets the egg during fertilization. Typically, a full set of DNA is formed, which contains 23 pairs of chromosomes. Sometimes, extra chromosomes are shared, resulting in what is called a trisomy.
Patau syndrome is also known as trisomy 13. It means that a person has an extra copy of chromosome number 13.
Keep reading to learn more about what causes this syndrome, what the symptoms are, and what you can expect after diagnosis.
Trisomy 13 is a rare genetic disorder that affects around
While rare, trisomy 13 is a very serious condition that can cause developmental issues that may lead to miscarriage, stillbirth, or infant death soon after birth.
A child who does survive may have a low birth weight and other serious medical issues.
If there is a complete extra copy of chromosome number 13 in each cell, the condition is called trisomy 13.
Sometimes this extra genetic information gets split between chromosome 13 and another chromosome — a translocation. This happens about 10 percent of the time.
In about 5 percent of individuals with trisomy 13, the extra copy of chromosome 13 only affects some cells and not all. When this happens, it’s called trisomy 13 mosaicism or partial trisomy 13. For individuals with mosaic trisomy 13, the signs and symptoms are generally less severe, and children may live longer.
Support for families experiencing trisomy 13
Here are support groups for parents and families impacted by trisomy 13:
You may have no symptoms during your pregnancy that indicate your child has Patau syndrome. Your doctor may uncover the first signs after cell-free DNA screening, other prenatal screening tests, or during a routine ultrasound exam.
Once your baby is born, you may observe the following features:
- low birth weight, problems with feeding, and low muscle tone
- microcephaly (small head) and face/head issues, like skin missing on the scalp, ear malformation, or capillary hemangiomas (raised birthmarks)
- microphthalmia (small eyes), anophthalmia (missing one or both eyes), or hypotelorism (eyes spaced closely together)
- cleft lip and palate
- polydactyly (extra fingers or toes)
- small penis or enlarged clitoris
Around 80 percent of babies born with trisomy 13 also have congenital heart abnormalities. Some may also have conditions that affect brain development and the kidneys.
In most cases, trisomy 13 happens spontaneously soon after the sperm and egg meet. The issue may arise as the reproductive material of either parent divides, or it may happen as cells divide after fertilization itself. In either of these cases, the extra chromosome happens at random.
That said, in rare cases, some people may pass a trisomy onto their child if they themselves have what is called a “balanced” translocation. This means that the parent carrier has a set of chromosomes that aren’t the norm but that they are balanced, so they don’t cause medical issues. However, when the parent with the balanced translocation has a child, the genetic information may be passed on and cause a trisomy 13 in the child.
Trisomy 13 can be diagnosed while you are pregnant or after your baby is born.
- A cell-free DNA screening is a noninvasive blood test that can be done as early as 10 weeks into pregnancy. If your screen shows a positive result, it means that your child may have trisomy 13, but that more concrete testing is needed.
- An ultrasound scan may reveal certain features that match up with Patau syndrome, like extra fingers or toes, small head size, or eye abnormalities.
- Amniocentesis is a diagnostic test that can be done after week 15 of pregnancy. Your doctor will obtain a sample of amniotic fluid to look for additional chromosomes.
- Chorionic villus sampling is a test that can be done earlier than amniocentesis, at 10 to 13 weeks. Your doctor will obtain a sample of placental tissue to look for additional chromosomes.
After birth, your child’s doctor may make a diagnosis based on a physical exam, certain characteristics, and blood tests to analyze chromosomes.
Questions for your doctor or healthcare professional
Speak with your doctor about any concerns you have regarding your pregnancy. Some questions you might consider asking include:
- Does my health or family history put me at a higher risk of having a child with trisomy 13?
- Does my age or my partner’s age put us at risk of having a child with trisomy 13?
- How soon into my pregnancy can I be screened or tested for this condition?
- If my result is positive, what additional tests or monitoring may be necessary?
- Will I need to see any specialists throughout my pregnancy?
- What options do we have depending on how our pregnancy progresses?
- What resources or supports are available for families in our position?
After birth, you might ask additional questions:
- What type of trisomy does my child have?
- What other specialists should I make appointments with?
- What treatments can help my child with medical issues?
- What therapies may help my child?
- What support can I get to help my child feed properly?
- Should we seek additional genetic testing?
Treatment for Patau syndrome is often targeted at whatever symptoms a child is experiencing. Instead of curative treatments, medical help tends to be focused on making the child comfortable, since
Your doctor may assemble a healthcare team to provide care for various health conditions while working together. Treatments may eventually involve surgery — for heart issues, cleft palate or lip, or other conditions — physical therapy, and other medical or social services.
Children who live longer may also benefit from early intervention and special education programs as they grow.
Medical teams that may provide care for a child with trisomy 13
The healthcare team for a child with Patau syndrome may include many healthcare professionals, such as:
- Maternal-fetal medicine specialist. These doctors monitor both mother and baby during high risk pregnancy.
- Neonatologist. These doctors treats newborns in the NICU with complex conditions.
- Pediatric cardiologist. These doctors treat heart conditions in babies and children.
- Geneticist. These doctors treat and evaluate people with genetic, inherited conditions.
- Pediatric neurologist or neurosurgeon. These doctors treat any conditions related to the brain.
- Pediatric ophthalmologist. These doctors treat any conditions related to the eyes.
- Plastic surgeon. These doctors treat cleft lip and palate and similar issues.
- Physical, occupational, or speech therapists. These healthcare professionals support physical and speech development.
Since most cases of Patau syndrome happen at random, it’s possible to have a child with this condition even if you have no known risk factors.
The primary risk factor mentioned in the medical literature is paternal age. So, as a parent’s age goes up, so does the potential for trisomy 13.
Again, the other risk factor is if either parent has a “balanced” translocation. This can be uncovered through genetic testing.
Your doctor may also suggest genetic testing if you already have a child with trisomy 13 (or another genetic condition) to determine if there’s an inherited factor at play that may impact future pregnancies.
Trisomy 13 is a very serious but very rare condition.
However, more than 90 percent of infants with trisomy 13 will not survive their first year. Most babies with this rare condition live only
Around 5 percent of children with trisomy 13 will live beyond the first year, though they will likely have growth and developmental delays.
Some children with trisomy 13
If your child receives a diagnosis of trisomy 13, you are not alone. This rare syndrome usually has a poor outlook, but there are support groups to help you connect with other families experiencing trisomy 13.
Your doctor can also provide local support and other resources you may need along the way.