Trisomia

Down syndrome , Edward syndrome and Patau syndrome are the most common forms of trisomy. Trisomy often occurs because of errors during  meiosis. Low muscle tone , small stature. Most people who have Down Syndrome. Severe intellectual disability. Although women of any age can have a child with  trisomy. The brain often doesn't divide into two halves. When this happens it can affect facial features and cause defects. Diagnostic prenatal testing can be performed by  invasive  or  non invasive  methods. And  chorionic villus sampling , which can be done earlier. Non invasive techniques include examinations of the woman's womb through  ultrasonography  and maternal serum screens.

Good morning everyone. Let me introduce myself. I study genetics at Vilnius university. As you can see on the screen today‘s topic is Human chromosomal disorders:trisomias.

After that I‘ll present for you 3 genetic disorders caused by trisomy, I‘ll show you some pictures.

It occurs in around one in 700 newborns. It is quite scary statistic

It is second most common autosomal trisomy, after Down syndrome.

Babies with Patau's syndrome can have a wide range of health problems.

Trisomias are fairly common problem, especially when we are talking about down sindrome because one in 700 newborns has this issue. There is an apportunity to figure out by prenatal diagnosis in an early stage of pregnancy if your newborn has any kind of trisomy ,so that parents could decide if they want to live with it or to terminate the pregnancy

So, to take all points into conclusion I would like to say that Trisomias are very common issue, but nowadays every pregnant women have an opportunity to get ultrasound or blood test. Both of them are really unexpensive and informative. Many of potential illnesses can be discovered by ultrasound. This is really important, because then we can run more tests and warn mothers about future problems. This would be really helpful for parents