- Who is this service designed for?
For pregnant mothers who are between 10 and 14 weeks of gestation and want to ensure their baby's chromosomal health with the highest possible accuracy (over 99%). For those who want to know whether their fetus is at risk for Down syndrome, Edwards syndrome, Patau syndrome, or sex chromosome abnormalities – without needing invasive procedures such as amniocentesis or CVS.
If you are also concerned that routine screening tests (based on ultrasound and maternal blood markers) are not accurate enough, and you want a definitive, reliable answer before making any decisions, this service is exactly for you.
- How is this service different from routine screening tests?
Routine screening tests (quadruple marker or NT ultrasound) combine maternal age, ultrasound findings, and several blood markers. Their accuracy for detecting Down syndrome is about 85‑90% – meaning that for every 10 affected fetuses, 1 to 2 are missed.
NIPT (Non‑Invasive Prenatal Testing), however, analyzes cell‑free fetal DNA circulating in the mother's blood and directly examines the fetal chromosomes. Its accuracy for trisomy 21 (Down syndrome) is over 99%, with a false positive rate of less than 0.1%.
Another difference is timing: NIPT can be performed from week 10 of pregnancy, whereas amniocentesis is typically done from week 15 onward and carries a 0.5‑1% risk of miscarriage.
- What does this service examine?
PharOmics NIPT uses next‑generation sequencing (NGS) technology to analyze fetal cell‑free DNA in the mother's blood sample and determines the presence or absence of the following:
- Trisomy 21 (Down syndrome): The most common chromosomal abnormality, associated with intellectual disability and characteristic facial features.
- Trisomy 18 (Edwards syndrome): A more severe abnormality, often accompanied by heart and kidney defects and early death.
- Trisomy 13 (Patau syndrome): The rarest and most severe trisomy, associated with brain abnormalities, cleft lip/palate, and heart defects.
- Sex chromosome abnormalities (XO, XXY, XYY, XXX): Screening for Turner syndrome, Klinefelter syndrome, and other variations in sex chromosome number.
- Fetal sex determination: If desired by the parents.
- What value does this service offer for the "future"?
The NIPT result is a snapshot that defines the status of the current pregnancy. However, after the baby is born, the data from this test (with parental consent and full privacy protection) can be stored in the PharOmics BioBank. This data, together with the child's other genetic information, completes their lifelong health record.
With the activation of PharOmics Plus, if you order other specialized packages for your child in the future, there will be no need for re‑sampling.
- PharOmics' competitive advantage in this service
A review of global NIPT providers (such as Natera, Illumina, and LabCorp) shows that PharOmics differs in three ways:
- Integration with the PharOmics ecosystem: NIPT results are stored directly in the MY PharOmics dashboard and integrated with the child's other genetic reports (if ordered in the future).
- Post‑test genetic counseling: A free counseling session with a genetics specialist is provided to interpret the results. You will not be left alone with a "false positive" or an "ambiguous result."
- Competitive and transparent pricing: No hidden fees, with full Persian‑language support.
- How it works (the process)
- Sample collection: A simple blood sample (5‑10 ml) is taken from the pregnant mother, either at a laboratory or at home (by arrangement).
- Sequencing: Fetal cell‑free DNA is isolated from the mother's blood and sequenced using NGS technology.
- Bioinformatic analysis: The data are analyzed using PharOmics' proprietary algorithms.
- Report delivery: Results are available in the MY PharOmics panel within 7 to 10 business days. A copy of the report is also sent to the attending physician.
- Post‑test counseling: A specialized counseling session is offered to interpret the results (if needed).