2025

Prenatal screening: understanding trisomy 21

Category (s):
Grossesse
Génétique
Prenatal screening: understanding trisomy 21

Being the most common chromosome anomaly, Trisomy 21 affects approximately one in 800 newborns. Caused by an extra chromosome on chromosome 21, this condition has clinical signs such as cognitive delay and birth defects. Also called Down syndrome, trisomy 21 will require the unborn child to receive medical care and follow-up adapted to their situation.

Risk factor

Like other types of Down syndrome, maternal age is the main risk factor. Over the age of 35, the risk is greatly increased. It is very rare for a hereditary factor to be the cause of a diagnosis of trisomy 21. Generally, trisomy occurs when there is no family history.

The signs & symptoms of trisomy 21

Les Signs and symptoms The causes of trisomy 21 depend from one individual to another, but we can find out:

- An intellectual disability, to a varying degree

- A global developmental delay

- Physical signs that are more or less pronounced, depending on the case

- Congenital malformations (heart and lungs)

- Musculoskeletal abnormalities

If you get a Diagnosis of trisomy 21 for your unborn child, it is entirely possible to think about welcoming them, since the quality of health care today now allows them to live longer. However, the challenge is present. For some parents, abortion will instead be considered. Our team will be there regardless of your decision and can help you find the resources you need to help you.

Screening for Trisomy 21

Prenato offers 2 types of screening to determine if there is a risk of trisomy 21 in your baby; prenatal screening using serum markers and prenatal screening using fetal DNA. These 2 options allow you to get accurate and fast results, in addition to benefiting from our antenatal support offer. In addition, the majority of group insurance covers the screenings offered by Prenato.

Sources: https://trisomie.qc.ca/a-propos/quest-ce-que-la-trisomie-21/https://www.merckmanuals.com/fr-ca/professional/pédiatrie/anomalies-chromosomiques-et-génétiques/syndrome-de-down-trisomie-21https://naitreetgrandir.com/fr/grossesse/trimestre1/grossesse-trisomie-21-depistage/
https://www.merckmanuals.com/fr-ca/professional/pédiatrie/anomalies-chromosomiques-et-génétiques/syndrome-de-down-trisomie-21

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