Trisomy 13, which is also referred to as Patau Syndrome, is one of the world’s most common causes of stillbirth or miscarriage. When humans are being formed within a mother’s womb, there are supposed to have two copies of a chromosome. Humans have 23 pairs of chromosomes in total. With Trisomy 13, there is a third copy of a chromosome present and that can lead to some severe health complications if a child achieves birth.
Statistics on Trisomy 13
1. About 1 in 21,000 babies are born in the world today with Trisomy 13.
2. Researchers believe that the incident rates are actually higher than this because 95% of children with this disorder will either miscarry or be stillborn.
3. There is no knowledge as to why some children with Trisomy 13 are able to survive to term while others are unable to do so.
4. As few as 5% of the children who are born with Trisomy 13 are able to celebrate their first birthday.
5. Only genetic tests can provide a specific diagnosis of this condition, although ultrasounds and alphafetoprotein tests can indicate markers that it might be present.
6. There are three types of Trisomy 13 that may occur. The third chromosome can be present in all of the cells, in some of the cells, or only exist as a partial presence in the cells.
7. The infant with Trisomy 13 may have a single umbilical artery at birth and there are often signs of congenital heart disease present.
8. Gastrointestinal x-rays or ultrasound may show that infants with Trisomy 13 have a rotation of the internal organs.
9. There is no specific treatment for Trisomy 13. Treatment varies from child to child and depends on the specific symptoms.
10. Many babies with Trisomy 13 have extra toes or fingers upon birth.
11. The risk of having a baby with trisomy 13 increases slightly with the mother’s age, but the average age of a mother giving birth to a child with this condition is 32.
12. 1%. That’s the chances that a couple who has a pregnancy that has been affected by Trisomy 13 will have another pregnancy with the same condition.
13. One study has reported higher Trisomy 13 rates among urban residents when compared to rural residents.
14. Race and ethnicity have not been reported to influence Trisomy 13 rates.
15. Male infants have a slightly higher risk of having this condition develop when compared to female infants.
16. No lifestyle or environmental factors have been definitively reported to affect Trisomy 13 risk.
17. There does not appear to be any seasonal variation in Trisomy 13 rates. Because of the differences in maternal age, one study showed that Trisomy 13 risks were highest for Far East Asians and lowest for Pacific Islanders.
Causes and Symptoms
Most cases of Trisomy 13 occur by random chance. It’s from an error in cell division that occurs during the formation of the sperm or the egg that will create the pregnancy. This means that the problem of a trisomy is already present at the time of conception, so the disorder is not likely to recur. Some parents may have a balanced translocation that involves the 13th chromosome and this can increase their specific risk of having a child born with this disorder.
The prognosis of a child being born with Trisomy 13 are not good. Although there are some limited reports of children born with this disorder living into adulthood, those who do reach the stage of being an adult have pervasive developmental disorders that can be very severe. The most common outcome for a child born with this syndrome is a death within the first year of life. Many babies pass away within the first month because of their health complications.
Parents who discover that their child has Trisomy 13 face some difficult choices in the days and weeks ahead. By knowing the statistics about this disorder, they can decide on the outcome that is best for them. There really is no general right or wrong answer here in how to respond to this situation. There is simply an informed choice to be made.
Challenges and Prevention
The children who are born with Trisomy 13 face many challenge in life. How severe this condition will be is difficult to determine until birth and if there are no immediate risk factors for premature death present, predicting a child’s overall health is also difficult. Will a child born today with Trisomy 13 be able to live to their teenage years? With only 1 in 10 at best reaching their first birthday, the odds are not in that child’s favor.
What is common with Trisomy 13 are severe intellectual delays, intelligence impairments, eyes that are unsually small, and a cleft palate. There may be other malformations present or birth defects that could contribute to a premature death as well. Infants who have Trisomy 13 fail to hit their developmental markers, struggle to put on wait, and generally have a failure to thrive. They may even have spontaneous issues of apnea where they fail to breathe on their own.
Behind Down’s Syndrome and Edward’s Syndrome, Palau Syndrome from Trisomy 13 is very common as a third chromosome disorder. There is no effective way to treat it. The only thing that can really be done is to support whatever a parent’s decision happens to be, even if that decision falls outside of our own moral codes. Is it better to give a child peace before they experience the possible pain of a life with this disorder? Should parents hold onto their children as long as they can? No one is in a place to judge a parent who is facing the birth of a child who has a higher than 99% chance of failing to thrive to a second birthday.