Trisomy 18 by Emily Edwards

When women become pregnant, there are many procedures they must follow in order to deliver a healthy baby. They must cut back on their caffeine intake, stop smoking, quit drinking, take vitamins and supplements, and other doctor-regulated daily steps to taking care of their unborn child. However, there are times when no matter what a mother does, some things are just out of her hands, such as genetic disorders. Trisomy 18 is a certain genetic disorder that can be tested for during pregnancy, but sadly many babies don’t live till term with this disorder.

Trisomy 18, or Edwards disorder is a genetic disorder caused by an extra chromosome 18. Instead of two chromosomes, there are three. It can be detected before birth; it is recommended many women get screened and/or get diagnostic tests for Trisomy 18 during prenatal care.  The way they test for this disorder is by checking for an overly enlarged uterus and extra amniotic fluid, both of which would be signs of Trisomy 18.  Other tests such as the Chorionic Villi test or ultrasound are also used, however, the ultrasound can only be used to test for this condition, and it isn’t an exact answer.

This disorder can affect as many as 1 in 5,000 babies a year, which is actually more common than most people think. Babies who are born with this disorder usually don’t live more than past the first week of birth, and if they do live past the first week of birth, they usually have many problems as they grow into their teenage years. Also, females are close to three times more likely to develop Trisomy 18 compared to male babies. The probability of babies with Trisomy 18 also increases with the age of the mother. When mothers plan on having children past their prime age, there is more of an increase in the probability of the development of developmental issues for their children, one of those issues being Trisomy 18.

There are many signs and symptoms of a child who is affected by this disorder. Some of the symptoms are crossed legs, low-set ears, a smaller head, and many other physical deformities. Also, the child will have kidney problems, the possibility of their intestines being outside of their body, and many other intense medical issues. There are also mental and intellectual deformities that will affect the growth and development of the baby throughout the years. A baby born with Trisomy is immediately sent to the Neonatal Intensive Care Unit for constant monitoring and medical treatment. A child may also develop an abnormal fingerprint and a breastbone that isn’t the normal length of a baby who isn’t affected by this disorder.

For parents who are living with a child with Trisomy 18, there are many support groups and information about their child’s condition. The biggest recommendation by doctors is to make sure that parents get genetic testing done if they are planning on having any more children in the future.  Unfortunately, after having a child with Trisomy 18 there are many challenges, psychologically and emotionally to conceiving more children.

Trisomy 18 is a genetic disorder that many babies do not survive and unfortunately is very common. With the birth of a child with this disorder, there are many health issues and a lot of the responsibility falls onto the parents with the help of in-home nurses. Trisomy 18 can be detected early, but nothing can be done to prevent this disorder since it is in genetics.

Resources:

http://ghr.nlm.nih.gov/condition/trisomy-18

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002626/ 

http://www.nlm.nih.gov/medlineplus/ency/article/001661.htm

http://www.trisomy18.org/site/PageServer?pagename=whatis_spal