Prenatal Genetic Testing in Kathmandu — NIPT & Screening The NIPT Screening — the ~98–99% T21 & the Screening-Not-Diagnosis
Prenatal genetic testing at Thamel Clinic — the NIPT screening (~98–99% T21, ~91–95% T18) with screening-not-diagnosis honesty and confirmatory pathway.
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Reviewed by: STD Specialist (MBBS, MD - Medicine)
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Last medical review: June 1, 2026
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Prenatal Screening in Kathmandu
- NIPT ~98–99% T21 — screening sensitivity.
- Screening, not diagnosis — high-risk → confirmatory.
- ~10wk timing — fetal fraction ~4% required.
- Confirmatory diagnostic — amniocentesis where high-risk.
Prenatal Genetic Testing — the Screening
Prenatal genetic testing is screening for fetal chromosomal abnormalities — the NIPT ( non-invasive prenatal test — cell-free fetal DNA in maternal blood — ~98–99% sensitivity for trisomy 21, ~91–95% for trisomy 18, ~85–90% for trisomy 13 — screen, not diagnosis).
The critical honest framing: the NIPT is a screening test, not a diagnosis — a high-risk result is elevated probability (the PPV depends on prevalence — screen flags probability, diagnostic confirms) — high-risk leads to confirmatory diagnostic ( amniocentesis) before it is a diagnosis.
The NIPT is timed to ~10 weeks ( fetal fraction — ~4% required — sufficient fetal DNA for reliable screen) — earlier test at a too-low fetal fraction produces no-result.
The NIPT — the Screening Method
The NIPT analyzes cell-free fetal DNA in maternal blood — maternal blood draw at ~10 weeks — screening for trisomies (T21/18/13) and sex-chromosome aneuploidies. The sensitivity: ~98–99% for T21, ~91–95% for T18, ~85–90% for T13 — screening, not diagnosis.
The NIPT is more-sensitive screen — vs older double-marker (~80–85%) — but screening-not-diagnosis is unchanged: a high-risk result is elevated probability, diagnostic confirmation follows.
NIPT ~98–99% T21
The screening sensitivity — current standard.
~91–95% T18, ~85–90% T13
The rarer trisomies — lower PPV.
Screening Not Diagnosis
The high-risk → confirmatory.
~10wk Timing
The fetal fraction ~4% required.
The Screening-Not-Diagnosis — the Honest Framing
The NIPT is a screen — a high-risk result is elevated probability, not diagnosis. The PPV ( positive predictive value — chance high-risk is a true positive) depends on prevalence — a high-risk result in a low-risk pregnancy is more likely a false positive than in a high-risk pregnancy.
The honest sequence: high-risk → genetic counselling → confirmatory diagnostic ( amniocentesis — diagnostic, not screen) — the NIPT flagging elevated probability, diagnostic confirming.
Screen ≠ Diagnosis
The high-risk is elevated probability.
PPV Depends on Prevalence
The false-positive rate in low-risk.
Confirmatory Diagnostic
The amniocentesis — diagnosis, not screen.
Counselling in Between
The informed decision at high-risk.
The ~10-Week Timing — the Fetal Fraction
The NIPT is timed to ~10 weeks — fetal fraction ( proportion of cell-free DNA that is fetal — ~4% required for reliable screen) reaching sufficient level — earlier test at a too-low fetal fraction producing no-result.
The timing is assessed at consultation — the ~10-week point being reliable fetal-fraction timing — earlier test at too-low fraction being no-result or reduced reliability.
~10wk Timing
The fetal-fraction requirement — ~4% needed.
Fetal Fraction ~4%
The sufficient fetal DNA for screen.
Earlier = No-Result
The too-low fraction producing no-result.
Timed to the Fraction
The correct week for reliable screen.
After the NIPT Result
A low-risk result is reassurance — screen-favorable — routine prenatal continuing (the NT scan and routine care alongside).
A high-risk result → genetic counselling → confirmatory diagnostic ( amniocentesis where high-risk warrants) — staged pathway from screen to diagnosis — counselling supporting decision at each step.
Low-Risk → Reassurance
The routine prenatal continuing.
High-Risk → Counselling
The informed decision at elevated probability.
Confirmatory → Amniocentesis
The diagnostic where warranted.
Staged Pathway
The screen → counselling → confirmation.
Prenatal Screening & Costs
| Service | What It Includes | Cost (NPR) |
|---|---|---|
| Consultation | Indication assessment and counselling | Rs. 450 |
| NIPT | The screening — ~98–99% T21 | Lab rate |
| NT scan | The ultrasound — complementary | Referred |
| Confirmatory | Amniocentesis where high-risk — referred | Per case |
Transparent pricing; confirm when booking.
Why Thamel Clinic for Prenatal Screening
- NIPT screening — the ~98–99% T21 sensitivity.
- Screening-not-diagnosis honest — confirmatory framed correctly.
- ~10wk timing — fetal-fraction requirement.
- Staged pathway — screen → counselling → diagnostic.
- Confidential — private consultations and results.
Frequently Asked Questions
What is NIPT?
The non-invasive prenatal test — cell-free fetal DNA screen — ~98–99% T21 sensitivity.
Is NIPT a diagnosis?
No — a screening — a high-risk leads to confirmatory diagnostic.
When can I get the NIPT?
From ~10 weeks — fetal fraction ~4% required.
What if high-risk?
Genetic counselling → confirmatory diagnostic (amniocentesis).
Is it confidential?
Yes — private consultations and results.
Still have questions? Contact us or book an appointment for personalized guidance.
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Last Updated: October 19, 2026 |Clinic: Thamel Clinic |Licensed: Registered