Why it is performed
- Estimate the risk of selected aneuploidies using non-invasive prenatal screening (NIPT/cfDNA).
- Investigate chromosomal or genetic abnormalities after ultrasound findings, relevant history or high-risk screening.
- Guide carrier testing or family studies related to pregnancy and reproduction.
How it is performed
Askabide provides information, reviews the request and identifies and collects the sample when appropriate. Genetic analysis is performed by a partner laboratory selected for the technique. Invasive studies require indication and collection by an accredited obstetric unit.
Preparation
- Provide exact gestational age, ultrasound reports, family history, previous pregnancies and screening results.
- Read and sign the specific consent; decide in advance what information you wish to receive when options exist.
- Do not make irreversible obstetric decisions on the basis of a screening result alone.
How Askabide processes it
Partner laboratory
NIPT analyses circulating cell-free DNA fragments in maternal blood and estimates risk; it does not directly examine all fetal cells. Diagnostic karyotype, microarray or molecular studies use different techniques and specimens at partner laboratories.
Askabide manages information, specimen and traceability; the specialist technique is performed externally.
Results and indicative intervals
Intervals vary by method, analyser, reagent, units, age, sex, pregnancy, menstrual-cycle phase and reference population. The valid interval is the one printed on the laboratory report.
| Parameter or result | Indicative reference | How it is interpreted |
|---|---|---|
| Low risk | Cribado, no diagnóstico | Reduces the likelihood of the conditions tested but does not exclude them with 100% certainty. |
| High risk | Requiere confirmación | Does not confirm a fetal abnormality; counselling and diagnostic testing are required when appropriate. |
| No result/inconclusive | Puede requerir repetición | May be due to low fetal fraction, gestational age, maternal factors or pre-analytical issues. |
| Diagnostic genetic test | Según la técnica | May report a variant, chromosomal abnormality or normal result within the specific test scope. |
Important limitations
- NIPT is a screening test, not a diagnosis.
- No prenatal genetic test covers every disease or malformation.
- Placental mosaicism, twins, transfusion, transplantation, maternal cancer or other factors can complicate interpretation.