2025
Prenatal screening: understanding trisomy 13
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Génétique
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Although Trisomy 21 is the best known and most common, there are other trisomies that present numerous risks for the unborn child. Trisomy 13, also called Patau syndrome, is one of these possible chromosomal abnormalities in a fetus.
Trisomy 13 is caused by the presence of an additional copy of chromosome 13. Causing major malformations in the fetus, it will lead to intrauterine death, or during the first months of life of the newborn.
Maternal age is the main risk factor for Down syndrome. The older a woman is during her pregnancy, the more likely she is to have a child with Down Syndrome. Trisomy 13 will affect approximately one in 7,000 newborns.
Affecting almost all organs, trisomy 13 has a number of manifestations:
- Intrauterine growth retardation
- Little fetal movement
- Nervous system abnormalities
- Facial abnormalities
- Kidney abnormalities
- Heart abnormalities
- Limb abnormalities
- Abdominal abnormalities
More than 95% of fetuses with Down syndrome will die during pregnancy. Of those who are born alive, about half will die within the first month of life. In total, around 9 out of 10 children affected by Trisomy 13 will die before the age of 1. For these children, the treatment team will generally be limited to comfort care.
The risk of recurrence is possible when a trisomy 13 is first diagnosed. Genetic follow-up and genetic counseling will then be offered to parents who receive this diagnosis. A fetal DNA screening test, a chorionic villus biopsy or an amniocentesis may be strongly encouraged during future pregnancy (s). The fetal DNA screening is the only validated screening for trisomy 13. In a single blood test, it will be possible to detect trisomies 13, 18 and 21 and you will have your results quickly.
Do not hesitate to contact us if you have any questions on the subject, we will be happy to guide you.
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