Trisomy 13

It depends on which cells in the body have the 2 copies of chromosome 13 and which have 3. If all of the heart cells have 3 copies of chromosome 13, the risk to have a heart defect may be the same. If all of the kidney cells have 2 copies of chromosome 13, the risk to have a kidney abnormality may be lower. Mosaicism is very complicated, and it is challenging to predict how a baby will be affected. Mosaicism means having more than one type of cell in the body. In the case of mosaic trisomy 13, it means some cells have the normal number of chromosome 13 (2 copies) and some cells have the abnormal number (3 copies).

When a pregnant woman and her family are told that their unborn baby has trisomy 13 and then it is confirmed through an amniocentesis or other prenatal diagnostic testing, it means that they are suddenly moved from a happy expectant place into a scary world of uncertainty, numbers, and frightening medical complications. Words such as lethal or ‘incompatible with life’ may be used. In most situations, a doctor is not telling a woman to end her pregnancy, but they will give their opinion based on their medical knowledge and past experience. However bleak the possible outcomes, the doctor, genetic counselor, and medical team should respect that it is that family and that pregnant woman’s choice to continue the pregnancy until term or not. It may help to talk to friends, family, doctors and faith leaders, before making a choice based on individual circumstances. It may help to reach out to organizations such as the SOFT support organization at http://trisomy.org. If a healthcare professional does not seem to be respecting or supportive of a pregnant woman’s decisions related to her pregnancy, then it is okay to seek another care team. Before changing care teams though it is best to discuss any concerns with the current doctor and team to determine if they are unknowingly pushing towards one decision or another.

Other people who have a child with trisomy 13 can be found through online support groups. They include:

Chromosome Disorder Outreach (http://www.chromodisorder.org)
SOFT (Support Organization for Trisomy) (http://trisomy.org)
The Arc (http://www.thearc.org)
Hope for Trisomy 13 & 18 (http://www.hopefortrisomy13and18.org)

Your local genetic counselor may also be able to connect you with other families who have had a child with trisomy 13. Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area (http://nsgc.org/p/cm/ld/fid=164).

Lucile Packard Children’s Hospital at Stanford: Trisomy 13 and Trisomy 18 (http://www.stanfordchildrens.org/en/topic/default?id=trisomy-18-and-13-90-P02419)
Minnesota Department of Health Fact Sheet (http://www.health.state.mn.us/divs/cfh/topic/diseasesconds/trisomy13.cfm)
Texas Department of State Health Services (http://www.dshs.state.tx.us/birthdefects/risk/risk10-trisomy13.shtm)
National Genetics and Genomics Education Centre (UK) (http://www.geneticseducation.nhs.uk/genetic-conditions-54/691-patau-syndrome-new)
About Kids Health (http://www.aboutkidshealth.ca/EN/HEALTHAZ/CONDITIONSANDDISEASES/GENETICDISORDERS/Pages/trisomy-13-patau-syndrome.aspx)

If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, support resources are available to help them as they carry their baby until birth. One of the best sources of support is perinatal hospice. Some areas have a perinatal hospice program associated with their medical centers or nearby. One such listing can be found on PerinatalHospice.org (http://www.perinatalhospice.org/list-of-programs.html). This same website provides lists of support, parent stories, birth plans, and suggestions that can be very helpful at http://www.perinatalhospice.org/resources-for-parents.html. Specific to families whose unborn baby has been diagnosed with a trisomy like trisomy 13, the SOFT organizations in the United States and United Kingdom have practical suggestions, support, stories, and ideas on their websites on pages such as http://www.soft.org.uk/Help-for-Families/Decisions-During-Pregnancy/Continuing-with-your-Pregnancy. It can be very helpful to talk to another family who has been in a similar situation and carried their baby with trisomy 13 until birth. Feel free to talk with your OB-Gyn, genetic counselor, or reach out to SOFT if you are interested in talking with another family.

A multidisciplinary team should care for people with trisomy 13. People with trisomy 13 should see a geneticist or a genetic counselor. A genetic counselor can help to further explain trisomy 13 and answer any questions you have. Genetics professional can also help you make the appropriate next referrals. Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area (http://nsgc.org/p/cm/ld/fid=164). Other necessary specialists will be dependent on what symptoms a child has, but some may be pediatric cardiologists, ear, nose and throat (ENT) specialists, neurologists, physical therapists, and surgeons.

SOFT (Support Organization for Trisomy) has gathered a list of organizations that can help parents during this time (http://trisomy.org/?page_id=5085). Northside Hospital in Atlanta, GA has H.E.A.R.T. Strings Perinatal Bereavement Office that gathers a list of resources as well (http://www.northsidepnl.com/our-favorite-resources.html).

Trisomy 13 is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Babies with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.

Babies with trisomy 13 have an extra copy of chromosome 13. Humans typically have 46 chromosomes (23 pairs) in every cell in their body. Humans generally have two copies of every chromosome, including chromosome 13. Chromosomes are made up of genes. Duplicating or deleting genes can cause health problems. People with trisomy 13 have three copies of chromosome 13, and have an extra set of all the genes located on this specific chromosome. Having a whole extra chromosome means there are a lot of genes with the wrong dosage (three copies instead of two copies). The extra genetic material leads to the serious health problems seen in Trisomy 13.

When someone has three copies of chromosome 13 in all of their cells, they have complete trisomy 13. Around 95% of children with a diagnosis of trisomy 13 are thought to have complete trisomy 13. The other 5% have mosaic trisomy 13. This means that some of their cells have the normal 2 copies of chromosome 13, and other cells have 3 copies of chromosome 13.

Historically, it has been a challenge for parents of children with trisomy 13 to acquire some necessary interventions needed to extend life. This could be surgically correcting a heart defect or even resuscitating (reviving to prevent death) a child with trisomy 13. There has been more push back to these conventions in recent years.
The main arguments for minimal intervention include:

If neither parent has a chromosome rearrangement, the chance to have a second baby with trisomy 13 is thought to be low, but not impossible. If there is a suspicion of trisomy 13 in a baby, it is important to confirm this with genetic testing so the most accurate recurrence risk (the chance that the couple will have another baby with the same condition) can be provided. There is around a 1% chance to have a second child with trisomy 13 or another trisomy, such as trisomy 21 or trisomy 18. The chance to have a child with trisomy 13 increases as a women ages. Even though trisomy 13 is rare, it is seen more frequently in babies born to women in their late 30s and early 40s, as compared to babies born to younger women. Prenatal testing is available and is generally offered to interested parents through their healthcare providers caring for them during pregnancy. Prenatal genetic counselors can also provide individualized information about the possibility of having another pregnancy with a chromosome problem.

A large number of babies with trisomy 13 will die while still in the mother’s womb and be born still. Studies suggest a 44-66% risk for fetal death in utero when the baby has trisomy 13, most often late in the 2nd trimester or early in the 3rd trimester of pregnancy. The chance for survival to delivery increases with gestational age.

Pseudotrisomy 13 syndrome is also called holoprosencephaly-polydactyly syndrome. Babies with pseudotrisomy 13 syndrome often have holoprosencephaly which means that their brains have not developed properly. The brain is supposed to divide into two halves, but this distinction does not completely finish in people with holoprosencephaly. People with polydactyly have more than 10 fingers or toes.

People with trisomy 13 have an extra copy of chromosome 13. Humans are expected to have 46 chromosomes (23 pairs) in every cell in their body. They are labelled with numbers (chromosome 1, chromosome 2, chromosome 3, etc.) Humans generally have two copies of every chromosome, including chromosome 13. Chromosomes are made up of genes. Duplicating or deleting genes can cause health problems. People with trisomy 13 have three copies of chromosome 13, and have an extra set of all the genes located on this specific chromosome. Having a whole extra chromosome means there are a lot of genes with the wrong dosage (three copies instead of two copies). The extra genetic material typically leads to serious health problems.

Chromosomes are made up of genes, and genes act as instructions for the body. Extra or missing genetic information can lead to health problems, because there are altered instructions for the cells of the body. Adding an extra, complete copy of chromosome 13 can cause heart defects, intellectual disability, birth defects of the brain and face, growth problems and other health problems.

Babies with trisomy 13 often have heart defects like atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, or dextrocardia (heart is located on right side of the body instead of the left). Kidney and brain abnormalities are seen as well. Babies are thought to be deaf (non-hearing) and can have episodes of apnea (where breathing stops), seizures, and feeding difficulties. Babies who survive after birth generally have severe intellectual disability.
There are physical features often seen in babies with trisomy 18 such as extra fingers/toes (polydactyly), small head size (microcephaly), openings in the palate (cleft palate), small jaw, and low set ears. Genital abnormalities like undescended testes in males (cryptorchidism) and underdeveloped ovaries have been seen.

It is not uncommon for babies with trisomy 13 to have abnormal ultrasound findings. The discovery could vary from inadequate growth (intrauterine growth restriction) to a heart defect. Other findings could be hydrocephalus (build up of fluid in the brain) or oligohydramnios (too little amniotic fluid surrounding the baby). Some babies with trisomy 13 have an abdominal defect which leads to some of the baby’s intestines being outside of the body. This is called an omphalocele, and is easily seen on a prenatal ultrasound.

The Angel Pics Project (http://www.babyangelpics.com)
Casting Keepsakes (http://www.castingkeepsakes.com)
The Kendall Keepsake Foundation (http://www.kendallkeepsake.org/About.php)
Molly Bears (http://www.mollybears.com)
Now I lay me down to sleep (https://www.nowilaymedowntosleep.org)

In most cases, trisomy 13 is not inherited. Trisomy 13 most often occurs because of a random mistake in the division of egg or sperm cells. However, trisomy 13 can be inherited if a parent has a rearrangement of chromosome material that involves chromosome 13. This rearrangement can also be called a “balanced translocation”. Humans generally have 46 chromosomes (23 pairs) in every cell in their body. We label them chromosome 1, chromosome 2, chromosome 3, etc. Humans generally have two copies of every chromosome, including chromosome 13. Sometimes bits of chromosomes can swap places. For example, the top of one chromosome 2 and the top of one chromosome 13 could switch places. The swap is called a translocation or a rearrangement. A person with that particular translocation would have a balanced translocation, because they aren’t missing any genetic information. That person’s children would have an increased chance to inherit a chromosome abnormality though, like partial trisomy 13. Analyzing a parent’s chromosomes can determine whether a parent has a balanced translocation. Balanced rearrangements are identified in about 1/1000 individuals, usually through the birth of a baby with an unbalanced chromosome condition.

There can be variable expression amongst people with trisomy 13. Babies with trisomy 13 will likely not have every possible symptom. Certain symptoms, like intellectual disability, are predicted to be found in most babies with trisomy 13. Degree of symptom severity may depend on how many cells in the body have three copies of chromosome 13. The term mosaicism is used if not all cells in the body have three copies of chromosome 13. Typically, only blood cells are tested to diagnosis trisomy 13. Some medical professionals believe that individuals with less severe trisomy 13 may have some cells with only 2 copies of chromosome 13 but this is hard to prove since samples of tissue from other parts of the body are not easily available to test. For example, a sample of heart tissue would never be taken from a living person to test the idea that mosaic trisomy is lessening the effects of the condition in a given individual.

As of January 2016, trisomy 13 is not on the Recommended Uniform Screen Panel (RUSP). The RUSP is created by the Health Resources and Services Administration. Individual States refer to this list to guide what conditions are included on their newborn screening panels. Generally, newborn testing tries to identify babies who have rare conditions and outcomes are improved with prompt diagnosis and therapy. Because babies with trisomy 13 typically have structural birth defects, identification after birth is not improved with broad-based testing.

There are a few types of genetic tests that can diagnose Trisomy 13. Trisomy 13 can be diagnosed through fluorescence in situ hybridization (FISH) testing, karyotype, or chromosomal microarray. The basic test is called a karyotype, where the chromosomes are counted and examined in a laboratory called a cytogenetic lab. This test takes about 7-10 days for a result. A rapid, preliminary test for trisomy 13 is called fluorescence in situ hybridization or FISH. This test uses a brightly colored probe to quickly count the number of copies of a given chromosome and can provide an early result in 2-3 days. A newer way to examine genetic material is called a chromosome microarray, which looks for extra or missing pieces of genetic material. This test can also be used to diagnose trisomy 13. Your healthcare provider may order one type of test or another based on turnaround time, the capability of their genetics laboratory and how strong his/her suspicion is for trisomy 13.

There are many ongoing research studies to improve prenatal tests for chromosome conditions such as trisomy 13. There is research being conducted on Trisomy 13. Clinical trial information can be found on the ClinicalTrials.gov website. SOFT (Support Organization for Trisomy) provides information on research as well.

There is no treatment that can cure trisomy 13. Certain symptoms may have treatments available. For example, if a baby has a cleft lip, surgeons can repair that defect. However, treating a specific problem will not cure trisomy 13 and may or may not prolong life. Your healthcare provider can help you find services to improve feeding ability. Surgical intervention may be necessary too. Other supportive services and therapies, like physical therapy or individualized education plans, may be helpful to some children.

If a diagnosis of trisomy 13 has been confirmed through amniocentesis or CVS, some families will consider termination. This can be the right decision for some families despite it possibly being very difficult. Different states will have restrictions on when a pregnancy termination procedure can be performed. A reproductive genetic counselor can help you better understand the options for your specific state.
FindLaw is an online service that describes the laws regarding abortion for different states (http://statelaws.findlaw.com/family-laws/abortion.html). This can be a useful starting point for understanding the laws in your state. It is important to note though that new laws/restrictions are continually being enacted so the information on this site may not be up to date.

Prenatal testing is available for trisomy 13. With prenatal diagnosis, baby DNA is tested during the pregnancy to determine whether the baby has trisomy 13. The fetal DNA sample is gathered through either an amniocentesis or chorionic villus sampling (CVS). An amniocentesis involves collecting some of the amniotic fluid surrounding the baby with a needle guided by an ultrasound. Fetal skin cells are in that fluid. A CVS involves collecting some of the placental cells, which typically are the same as the cells of the baby. A CVS procedure can be performed as early as 11 weeks of the pregnancy while an amniocentesis is generally offered after 15 weeks of the pregnancy.

Some families may like to have a diagnosis before birth to help them prepare for the delivery. Other families may make a decision about termination from prenatal diagnostic testing results. There are benefits, limitations, and risks to both of these procedures.

Preimplantation genetic diagnosis (PGD) is available for trisomy 13. PGD allows for parents to only implant embryos into the mother’s uterus that do not have trisomy 13. PGD is an option when mothers are using in vitro fertilization (IVF). A woman’s egg cells are retrieved and fertilized in a petri dish with sperm cells. After growth for 3-5 days, one cell can be biopsied, and the genetic make up can be studied. Embryos with trisomy 13 (or other chromosome problems) would not be used for implantation into the mother’s uterus, thereby minimizing the chances of having a baby affected with trisomy 13. IVF and PGD can be costly (both financially, time consuming and emotionally) but for families with infertility, these procedures can help them have healthy babies. IVF is not guaranteed to lead to pregnancy every time.

The loss of any pregnancy is devastating and then to have unanswered questions in your mind about chromosomes and age probably doesn’t help. Here are some thoughts for you that hopefully will ease your mind a little. The first is that women and couples of all ages can have babies with extra chromosomes. In fact, many people well under 35 years old who have experienced miscarriages in the first 13 weeks of pregnancy have had babies with extra chromosomes that wasn’t diagnosed. The ability to do a more reliable blood test for chromosomes has changed our ability to understand how many more babies actually have extra chromosomes over the past few years due to [section id="383″ target=”_blank”>NIPT[/section]. The second is that crossing the "35 line" does not mean all your eggs have extra chromosomes.

The best thing would be to talk to a genetic counselor in your area. The genetic counselor can look at your baby’s results, talk to you about the type of Trisomy 13 that he had, talk about preconception/prenatal testing, and then discuss the chance of it happening again. You are not too old to have another baby, but you need to go in "armed with knowledge" that a genetic counselor can give you. (Take a look at "Find a Genetic counselor" in your area http://nsgc.org/p/cm/ld/fid=164 )

There are some amazing folks out there who have lost a baby to Trisomy 13 and are very open to talking to you at support sites like SOFT (http://trisomy.org/).

If you are a reader, there are a few books that can be so helpful during a time of loss:
Sunshine After the Storm: A Survival Guide for the Grieving Mother (https://www.amazon.com/gp/product/0989934713/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0989934713&linkCode=as2&tag=aheartbreakingchoice-20&linkId=LLH4HHIDFYC253AD)

Empty Arms: Coping With Miscarriage, Stillbirth and Infant Death (https://www.amazon.com/gp/product/0960945660/ref=as_li_tl?ie=UTF8&camp=1789&creative=%20%20%20%20%20%20%20%20%20%20%20%20%20%20%20%209325&creativeASIN=0960945660&linkCode=as2&tag=aheartbreakingchoice-20&linkId=2GEPDCBQDV4UQZ7A)

The answer to this question can vary considerably. The heart defects and other health problems associated with trisomy 13 can make it difficult for babies to survive. Some babies with trisomy 13 will die in utero before they are born. Other times, babies make it to delivery but they pass away a few hours or days later. A study of 693 babies born with trisomy 13 between 1999-2007 reported that ~75% survived to one day, ~25% survived to 28 days and 9.7% survived to 5 years.

Trisomy 13 most often occurs randomly as sperm and eggs are created, most commonly due to a process called nondisjunction. Humans generally have 46 chromosomes (23 pairs) in every cell in their body. When a woman’s eggs are made, each egg generally has one copy of each of the 23 chromosomes. The same is true for sperm. The 23 copies from the sperm and the 23 copies from the egg then combine to create an embryo with 46 chromosomes (23 pairs). When nondisjunction happens, an egg or a sperm is created with 2 or 0 copies of a given chromosome instead of the usual 1. If an egg with two copies of chromosome 13 combines with a sperm with 1 copy of chromosome 13, the embryo can develop into a baby who will have trisomy 13.

There are multiple ways to help this community through financial contribution. You can donate to a support group like the SOFT: Support Organization for Trisomy (http://trisomy.org) or Chromosome Disorder Outreach (http://www.chromodisorder.org). Support groups will use their funds differently. Some will help to raise awareness, assist people with trisomy 13, or donate to medical research.

Most academic health centers have medical geneticists and pediatricians who are most familiar with the care of individuals with trisomy 13. Your local healthcare provider will be aware of the nearest specialist for an individual with trisomy 13.

Through the National Society of Genetic Counselors (NSGC) website, you can find a genetic counselor in your area (http://nsgc.org/p/cm/ld/fid=164). A genetic counselor can help to further explain trisomy 13 and answer any questions you have.

ClinicalTrials.gov can provide up-to-date information on research being conducted. SOFT (Support Organization for Trisomy) provides information on research as well (http://trisomy.org/?page_id=3111).

There are a few types of genetic tests that can diagnose trisomy 13. After birth, trisomy 13 can be diagnosed by examining the cells from a blood sample. The basic test is called a karyotype, where the chromosomes are counted and examined in a laboratory called a cytogenetic lab. This test takes about 7-10 days for a result. A rapid, preliminary test for trisomy 13 is called fluorescence in situ hybridization or FISH. This test uses a brightly colored probe to quickly count the number of copies of a given chromosome and can provide an early result in 2-3 days. A newer way to examine genetic material is called a chromosome microarray, which looks for extra or missing pieces of genetic material. This test can also be used to diagnose trisomy 13.

Before the baby is born, these same tests can be completed on a sample of amniotic fluid, which contains skin cells from the baby. A physician would use a procedure called an amniocentesis to withdraw a small amount of fluid from around the baby for genetic testing. Another way to use these tests during pregnancy is chorionic villus sampling (CVS). In this procedure, a physician obtains a small sample of the placental tissue. The placenta and the baby come from the same fertilized egg, so performing genetic testing on the placental cells should give the same results as testing the baby.

Around 1 in every 10,000 to 1 in 12,000 babies born has trisomy 13. Trisomy 13 is considered a rare condition. However, it occurs more often to babies born to older women, as compared to babies born to younger women. In other words, trisomy 13 is related to maternal age. Trisomy 13 is seen in all populations and is not related to ethnicity.

Around 80% of babies with trisomy 13 are born with some kind of heart defect. Some of these are more severe than others. Atrial septal defect (ASD) and ventricular septal defect (VSD) are common; these are small holes in the membranes that separate the heart chambers. People with a patent ductus arteriosus (PDA) have an opening between the major arteries that interact with the heart. Coarctation of the aorta is another common defect, and means that the aorta is constricted or too narrow for proper blood flow. Dextrocardia, which can also found in babies with trisomy 13, is when the heart is located on right side of the body instead of the left. To learn more about heart defects, you can read [link url="www.nhlbi.nih.gov/health/health-topics/topics/chd” target=”_blank”>this article from the National Heart, Lung and Blood Institute.

Noninvasive prenatal testing (NIPT) is available for trisomy 13. NIPT is a screening option for pregnant women. This newer blood screening test has been available since 2013. Most laboratories offering this test state that the test identifies about 90% of pregnancies affected with trisomy 13. This test evaluates pieces of placental DNA that are outside of cells and are in the mother’s blood. Parents are recommended not to make permanent decisions about the pregnancy solely based on NIPT results. Diagnostic testing like chorionic villus sampling (CVS) or amniocentesis can confirm or rule out a screen result. More research needs to be conducted to better understand and improve the accuracy of this test.

Trisomy 13 can also be called Patau syndrome or Bartholin-Patau syndrome.

There are good support groups for Trisomy 13. They include:

Chromosome Disorder Outreach (http://www.chromodisorder.org)
SOFT (Support Organization for Trisomy) (http://trisomy.org)
The Arc (http://www.thearc.org)
Hope for Trisomy 13 & 18 (http://www.hopefortrisomy13and18.org)

The extra copy of chromosome 13 is present in the baby’s cells from early in prenatal development. Some symptoms of trisomy 13 are revealed through prenatal ultrasounds or prenatal testing. Babies with complete trisomy 13 will almost always have symptoms before birth, such as growth being slower than expected while in the womb. There is no "late onset" form of Trisomy 13.

Some babies with trisomy 13 have similar facial features. These can include small eyes (microphthalmia), openings in the lip or roof of the mouth (cleft lip/ palate), small head size (microcephaly), a broad, flat nose, eyes slightly farther apart than normal (ocular hypertelorism), and low set ears. Some babies with trisomy 13 may have missing eyes, or the nose may be misplaced on the face.

There are support groups for women who have decided to not continue a pregnancy for a baby with trisomy 13. They include:
A Heartbreaking Choice (http://www.aheartbreakingchoice.com)
Our Heartbreaking Choices (http://www.ohcbook.com/support-resources/online-grief-and-loss-support/)
Ending a Wanted Pregnancy (http://endingawantedpregnancy.com)

Trisomy 18 may sometimes look like trisomy 13.