Prenatal Genetic Testing in Nepal — The Complete Guide
Prenatal genetic testing spans a spectrum — from risk-free blood screening (NIPT, serum markers) to definitive diagnosis (CVS, amniocentesis, microarray, exome). This guide maps the complete pathway available from Nepal.
Two families of tests: screening vs diagnosis
Screening tests (NIPT, double marker, quadruple screen, first-trimester combined) estimate the probability of a condition — safe, non-invasive, but probabilistic. Diagnostic tests (CVS, amniocentesis followed by karyotype, QF-PCR, FISH, microarray, or exome) examine fetal cells directly for definitive answers — with a small procedure risk.
First trimester: screening options
From 10 weeks: NIPT — the most accurate trisomy screen. From 11–13+6 weeks: the combined first-trimester screen (NT ultrasound + double marker) and enhanced versions adding PlGF for pre-eclampsia risk. These tests layer well: NT ultrasound for anatomy, NIPT for chromosomes.
Second trimester: continuing options
The quadruple screen (15–20 weeks) covers trisomy risk plus AFP for neural tube defects. The 18–22 week anomaly scan is the universal structural assessment — non-negotiable regardless of screening results.
Diagnostic testing — when certainty is needed
CVS (11–14 weeks) or amniocentesis (from ~15–16 weeks) provide fetal cells for definitive testing: QF-PCR for rapid trisomy answers (24–72 hours), karyotype for full chromosomes, microarray for submicroscopic deletions/duplications, and exome for complex unexplained anomalies. Each is available through coordinated pathways from Nepal.
Building your personal pathway
The right combination depends on age, screening results, ultrasound findings, and family history. Our team maps the pathway with you — and importantly, a high-risk screen is always confirmed diagnostically before any conclusion.
Frequently Asked Questions
Which prenatal genetic test should I start with?
Are diagnostic tests available in Nepal?
Do I need all these tests?
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