2025

Prenatal screening: understanding trisomy 18

Category (s):
Génétique
Grossesse
Prenatal screening: understanding trisomy 18

Trisomy 18 is the result of an additional chromosome at the level of chromosome 18. Also called Edwards syndrome, it affects on average one in 4,500 births. It is also the cause of many miscarriages.

What is Trisomy 18?

It is associated with intellectual disability and a number of birth defects. Over 95% of fetuses will die during pregnancy. Like trisomy 13 and 21, maternal age is the main risk factor for having a baby with Down syndrome. During pregnancy, some signs may be present including growth retardation, the presence of malformations and choroid plexus cysts.

How is Trisomy 18 detected?

Trisomy 18 presents multiple serious problems for babies:

- Congenital abnormalities
-
Intellectual disability
-
Severe microcephaly
-
Heart defects
- Facial malformation

Fetal DNA is the screening that offers the highest detection rate for trisomy 18. If screening showed a high risk, genetic referral and prenatal diagnosis would be recommended.

You would like to perform a screening test by Prenato fetal DNA? Perform it, in a single blood test, from 10E week of pregnancy.

Sources: https://www.merckmanuals.com/fr-ca/professional/pédiatrie/anomalies-chromosomiques-et-génétiques/trisomie-18https://www.aboutkidshealth.ca/fr/Article?contentid=875&language=French
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