Ninalia 5 (T13 T18 T21, Fetal gender ans sex chromosomes aneuploïdies)
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NINA5
Synonyms
- cfDNA
- DPNI
- Ninalia
- NIPT
Specialty
Genetics
Clinical significance
See NINA3 (without fetal sex detection and sex chromosome abnormalities) version for general test information Detecting sex chromosome abnormalities: - In singleton pregnancies, sex chromosome aneuploidies can also be detected. Sex chromosome aneuploidies detected include 45,X, 47,XXX, 47,XXY, 47,XYY. - Fetal sex classification concordance : 100% XX ,100% XY ,90.5% XO, 100% XXX ,100% XXY , 91.7% XYY - In twin pregnancies, the presence or absence of Y is detected but sex chromosome aneuploidies cannot be detected. Performance in Twin Pregnancies: - Trisomy 21: Sensitivity 96,4%; Specifity 99,9% - Trisomy 18: Sensitivity 95,7%; Specifity >99,9% - Trisomy 13: Sensitivity 93,6%; Specifity >99,9% - Présence of Y: Sensitivity >99,9%; Specifity >99,9%Due to even lower prevalence, data for higher-order pregnancies (triplets or higher) were insufficient to establish appropriate statistical models to estimate accuracy of aneuploidy detection.
Preanalytics
- 1 x 10 mL :
- Whole blood Streck (complete filling of the tube is required)
- Ambient temperature
- A tube specifically for this analysis : No
Further information
Enclose the specific B39-INTGB request form : DPNI
Sample must be forwarded to Eurofins Biomnis within 5 days maximum
Straight away after blood draw, mix blood by gentle inversion (10 times minimum)
ALWAYS attach the specific information form, the 1st trimester ultrasound report, the consent form dated and signed by the clinician and the patient.
Documents to download
Methodology
New generation sequencing
Turnaround time
5 business days (Monday to Friday upon receipt at Eurofins Biomnis)