Trisomy 13

Symptoms

What are the main signs and symptoms of trisomy 13?

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.

References
  • http://ghr.nlm.nih.gov/condition/trisomy-13
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
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Are there earlier onset or later onsets of Trisomy 13?

How common are heart defects in patients with Trisomy 13?

Is there variable expression in Trisomy 13?

What is the difference between Trisomy 13 and mosaic Trisomy 13?

Will my child be less severely affected if they have mosaic Trisomy 13?

How long can a baby live with Trisomy 13?

Are there certain facial features associated with Trisomy 13?

Are there earlier onset or later onsets of Trisomy 13?

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.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • Semin Perinatol. 2016 Jun;40(4):254-60. doi: 10.1053/j.semperi.2015.12.015. Epub 2016 Feb 1.Cardiac surgery for children with trisomies 13 and 18: Where are we now?Janvier A1, Farlow B2, Barrington K
How common are heart defects in patients with Trisomy 13?

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 this article from the National Heart, Lung and Blood Institute.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • Semin Perinatol. 2016 Jun;40(4):254-60. doi: 10.1053/j.semperi.2015.12.015. Epub 2016 Feb 1.Cardiac surgery for children with trisomies 13 and 18: Where are we now?Janvier A1, Farlow B2, Barrington K
  • Int Heart J. 2016;57(1):121-2. doi: 10.1536/ihj.15-186. Epub 2015 Dec 17.Norwood Procedure Performed on a Patient With Trisomy 13.Oka N1, Inoue T, Shibata M, Yoshii T, Nakamura Y, Araki H, Matsunaga Y, Tamura T, Itatani K, Horai T, Kitamura T, Torii S, Miyaji K.
Is there variable expression in Trisomy 13?

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.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • Neonatal Netw. 2016;35(1):31-6. doi: 10.1891/0730-0832.35.1.31.Trisomy 13: Changing Perspectives.Macias G, Riley C.
What is the difference between Trisomy 13 and mosaic 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.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • Neonatal Netw. 2016;35(1):31-6. doi: 10.1891/0730-0832.35.1.31.Trisomy 13: Changing Perspectives.Macias G, Riley C.
Will my child be less severely affected if they have mosaic 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).

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
How long can a baby live with Trisomy 13?

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.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • http://ghr.nlm.nih.gov/condition/trisomy-13
  • Am J Med Genet A. 2016 Apr;170(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.Meyer RE1, Liu G2, Gilboa SM3, Ethen MK4, Aylsworth AS5, Powell CM5, Flood TJ6, Mai CT3, Wang Y7, Canfield MA4; National Birth Defects Prevention Network.
Are there certain facial features associated with 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.

References
  • http://rarediseases.org/rare-diseases/trisomy-13-syndrome/
  • Am J Med Genet A. 2016 Apr;170(4):825-37. doi: 10.1002/ajmg.a.37495. Epub 2015 Dec 10.Survival of children with trisomy 13 and trisomy 18: A multi-state population-based study.Meyer RE1, Liu G2, Gilboa SM3, Ethen MK4, Aylsworth AS5, Powell CM5, Flood TJ6, Mai CT3, Wang Y7, Canfield MA4; National Birth Defects Prevention Network.

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