Trisomy 18 is the most common chromosomal abnormality

• April 23, 2024

The Edwards syndrome , better known as Trisomy 18, has had a lot of diffusion, in the case of the Republican Rick Santorum, who has a daughter who suffers from this chromosomal abnormality.

The former US senator says that the small Bella, who is 3 years old, has exceeded the estimated survival for children suffering from Trisomy 18.

The trisomy 18 is one of the three most common chromosomal anomalies, although it is quite rare, occurring in approximately 1 in every eight thousand newborns.

According to information published by The Washington Post , about 60% of newborns die with the disease ; between 10 and 5% survive one year, and only 1% live more than 10 years with this genetic condition, especially girls.

What is Trisomy18?

Children with Trisomy 18 have three copies of chromosome 18 instead of two; the cause of disease it is still unknown; However, specialists point out that children with older mothers have a higher risk of suffering from it. It can be detected before birth, through a microscopic examination of the amniotic fluid and ultrasound.

Most babies with Trisomy 18 have malformations of various organs. Almost all have an abnormal heart, with a perforation between the large cavities of the heart.

In addition, a third has a single horseshoe-shaped kidney and a fifth has an abnormal esophagus. The Mental retardation It is common, but not universal, and many have characteristic facial features, such as low set ears.

The specialists point out that around 90% have low birth weight and some are premature; the infections they are a common and recurrent problem in babies with trisomy 18.

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Video Medicine: Chromosomal Abnormalities: Trisomy 21,18 & 13 – Embryology | Lecturio (April 2024).