Trisomy 20p

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How long do people with trisomy 20p live?

The life span of a person with trisomy 20p depends how severe their symptoms are and if they receive treatment. Most people with this condition live into adulthood.

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How is trisomy 20p diagnosed before birth?

If I have a child with trisomy 20p, what are the chances that my next child will have it?

How are congenital heart defects treated in babies with trisomy 20p?

Will my child with trisomy 20p attend school?

How common is trisomy 20p?

My doctor says that my child’s trisomy 20p was caused by an inversion. What is that?

My doctor says that my child’s trisomy 20p was caused by a translocation. What is that?

If a parent has a translocation or inversion that makes it more likely that they will have a child with trisomy 20p, how can they reduce their likelihood of having a child with the disorder?

How is trisomy 20p diagnosed before birth?

If trisomy 20p is suspected, a sample of the baby’s DNA is needed to diagnose the condition. A baby’s DNA can be found in the placenta or in the amniotic fluid (the liquid surrounding the baby in the womb). Before 14 weeks, the placenta can be sampled through chorionic villus sampling (CVS). The doctor inserts an instrument through the mother's vagina or abdomen to obtain the sample. After 14 weeks, the amniotic fluid can be sampled through amniocentesis. The doctor inserts a needle through the mother’s abdomen. However, if there is not enough amniotic fluid (oligohydramnios), the doctor may do a CVS after 14 weeks.

The baby's DNA can be tested to see how many copies of chromosome 20p are present. A picture of the chromosomes, called a karyotype, can identify extra chromosome 20p material.

If I have a child with trisomy 20p, what are the chances that my next child will have it?

The risk of having another child with trisomy 20p depends on the chromosomes of the parents. Most of the time, parents of children with trisomy 20p have a change in the location of their chromosome 20p. This change is usually a translocation or inversion. In a translocation, part of a chromosome attaches to another chromosome and ends up in an unexpected location. In an inversion, a section of a chromosome switches positions, or flips around. Translocations and inversions make it more likely that future children will have the same condition. However, if there is no genetic change in the parents, the chances are much lower that another child will have trisomy 20p. Be sure to check with your healthcare team to talk about your risk. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

How are congenital heart defects treated in babies with trisomy 20p?

A congenital heart defect is a heart problem that is present at birth. If a child with trisomy 20p has a congenital heart defect, it may or may not require surgery. Sometimes only one procedure is needed. Other times, several surgeries and medication may be necessary. Treatment depends on the specific heart defect.

Will my child with trisomy 20p attend school?

Children with trisomy 20p can attend school. They may be in special classes that can tailor to their individual needs and intellectual ability. In these classes, children with trisomy 20p can be successful.

How common is trisomy 20p?

As of 2012, there have been 40 people known to have this disorder. This makes it extremely rare.

My doctor says that my child’s trisomy 20p was caused by an inversion. What is that?

An inversion is a change that can happen in the chromosomes. An inversion happens when a section of a chromosome switches locations, or flips. If the chromosomes are compared to books, then an inversion would be like a chapter in the book that is written backwards.

References
My doctor says that my child’s trisomy 20p was caused by a translocation. What is that?

A translocation is a change that can happen in the chromosomes. One part of a chromosome attaches to another chromosome where it does not normally belong. If the chromosomes are compared to books, then a translocation would be like pages of one book being placed into another book. Because the chromosome 20p information is in an unusual place, it is more likely that a child will inherit an extra copy. Speak with a genetic counselor to find out how this happens. A genetic counselor can also talk to you about the chance that this could happen in a future pregnancy. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

If a parent has a translocation or inversion that makes it more likely that they will have a child with trisomy 20p, how can they reduce their likelihood of having a child with the disorder?

In order to lower the chance of having a child with trisomy 20p, parents can choose in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). This involves taking an egg from the mother and fertilizing it with sperm from the father. Either the egg or the developing embryo (the combined egg and sperm) can be tested for the genetic change that the parent has. An embryo without the same change can then be implanted into the mother. If you are interested in this option, consult your doctor or a fertility clinic in your area. You can also speak with a genetic counselor who specializes in assisted reproductive technology. Genetic counselors can be found using the “Find a Genetic Counselor” tool on the National Society of Genetic Counselors’ website.

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