Patient’s journey according to the decision tree
Screening
Non-invasive sample
- Ultrasound
- Maternal Serum Markers (MSM)
- Non-Invasive Prenatal Testing (NIPT)
Diagnosis
Invasive sample
- Amniocentesis
- Chorionic villus sampling
Trisomy 21 diagnostic strategy with NIPT
N.B: For signs on ultrasound or risk greater than 1/10 according to maternal serum markers, confirmation of diagnosis via fœtal karyotype testing on invasive sample is required.
Please contact Eurofins Biomnis geneticists at International@biomnis.eurofinseu.com should you need further information.
What are the Ninalia’s benefit for the patient and her physician ?
Autosomal aneuploidies can, for most chromosomes, be found in the form of mosaics. Thus, when an anomaly is observed, the healthcare professional will refer, depending on the anomaly found, to ultrasound monitoring, and/or monitoring of the risk of pre-eclampsia, and/or possibly towards an invasive procedure to study the karyotype.
The result of the test can, thus, by directing the monitoring of the pregnancy, make it possible to avoid a miscarriage in late pregnancy.
When an invasive procedure is required, knowledge of the suspected abnormality helps the healthcare professional specify the confirmatory techniques to be used (karyotype, FISH, DNA chip) and the type of tissue to be studied (chorionic villi or amniotic fluid).
Finally, a structural imbalance of more than 7 megabases, proven in the foetus, may not necessarily be accompanied by ultrasound call signs at the end of pregnancy but may be associated with clinical signs at birth, or at a later date.
